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http://www.ncbi.nlm.nih.gov/pubmed/19949750,http://www.ncbi.nlm.nih.gov/pubmed/21046516,http://www.ncbi.nlm.nih.gov/pubmed/21189019,http://www.ncbi.nlm.nih.gov/pubmed/11551755,http://www.ncbi.nlm.nih.gov/pubmed/22308350,http://www.ncbi.nlm.nih.gov/pubmed/17314045,http://www.ncbi.nlm.nih.gov/pubmed/18666306,http://www.ncbi.nlm.nih.gov/pubmed/24074025

List metalloenzyme inhibitors.

Foscarnet VT-1129 VT-1161 BB-3497 hydroxamate molecules siderophores

http://www.ncbi.nlm.nih.gov/pubmed/8783263,http://www.ncbi.nlm.nih.gov/pubmed/11222693,http://www.ncbi.nlm.nih.gov/pubmed/19581597,http://www.ncbi.nlm.nih.gov/pubmed/15507712

How are immediate early genes (IEG) defined?

this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis. Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation.this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis.Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation.Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis. . . . Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. This class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis.Immediate-early (IE) genes are the first class of viral genes expressed after primary infection or reactivation. this class of genes is experimentally defined by their transcription following primary infection or reactivation in the presence of inhibitors of protein synthesis.

http://www.ncbi.nlm.nih.gov/pubmed/26982580,http://www.ncbi.nlm.nih.gov/pubmed/26142279

Which proteins remove H2A.Z in the yeast Saccharomyces cerevisiae?

Removal of H2A.Z by INO80 promotes homologous recombination Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80.Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays. Importantly, we demonstrate that the HR defect in cells depleted of INO80 or ANP32E can be rescued by H2A.Z co-depletion, suggesting that H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Here, we show that H2A.Z in human cells is indeed rapidly removed from chromatin flanking DNA damage by INO80. We also report that the histone chaperone ANP32E, which is implicated in removing H2AZ from chromatin, similarly promotes HR and appears to work on the same pathway as INO80 in these assays.we also report that the histone chaperone anp32e, which is implicated in removing h2az from chromatin, similarly promotes hr and appears to work on the same pathway as ino80 in these assays.Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombination H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.Budding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. Removal of H2A.Z by INO80 promotes homologous recombinationBudding yeast INO80 can remove H2A.Z/H2B dimers from chromatin and replace them with H2A/H2B dimers. H2A.Z removal from chromatin is the primary function of INO80 and ANP32E in promoting homologous recombination.

http://www.ncbi.nlm.nih.gov/pubmed/27832739

Which library is used for fixed-length approximate string matching?

libFLASM is a free open-source C++ software library for solving fixed-length approximate string matching under both the edit and the Hamming distance models.

http://www.ncbi.nlm.nih.gov/pubmed/24885602

Are there methods for generating highly multiplexed ChIP-seq libraries?

Yes. There are methods for generating highly multiplexed ChIP-seq libraries.

http://www.ncbi.nlm.nih.gov/pubmed/24382354,http://www.ncbi.nlm.nih.gov/pubmed/25885550,http://www.ncbi.nlm.nih.gov/pubmed/21057569,http://www.ncbi.nlm.nih.gov/pubmed/19103993,http://www.ncbi.nlm.nih.gov/pubmed/6734434,http://www.ncbi.nlm.nih.gov/pubmed/6407163,http://www.ncbi.nlm.nih.gov/pubmed/9923553,http://www.ncbi.nlm.nih.gov/pubmed/12679799,http://www.ncbi.nlm.nih.gov/pubmed/12865930,http://www.ncbi.nlm.nih.gov/pubmed/19920767,http://www.ncbi.nlm.nih.gov/pubmed/23843850,http://www.ncbi.nlm.nih.gov/pubmed/24714774,http://www.ncbi.nlm.nih.gov/pubmed/20060872,http://www.ncbi.nlm.nih.gov/pubmed/19660469,http://www.ncbi.nlm.nih.gov/pubmed/26507774,http://www.ncbi.nlm.nih.gov/pubmed/24484915,http://www.ncbi.nlm.nih.gov/pubmed/17875725,http://www.ncbi.nlm.nih.gov/pubmed/25660617,http://www.ncbi.nlm.nih.gov/pubmed/22343424,http://www.ncbi.nlm.nih.gov/pubmed/24902966,http://www.ncbi.nlm.nih.gov/pubmed/8647872,http://www.ncbi.nlm.nih.gov/pubmed/26164096,http://www.ncbi.nlm.nih.gov/pubmed/17888722,http://www.ncbi.nlm.nih.gov/pubmed/10507317,http://www.ncbi.nlm.nih.gov/pubmed/24916696,http://www.ncbi.nlm.nih.gov/pubmed/8402643,http://www.ncbi.nlm.nih.gov/pubmed/3029137,http://www.ncbi.nlm.nih.gov/pubmed/15515283,http://www.ncbi.nlm.nih.gov/pubmed/1531780,http://www.ncbi.nlm.nih.gov/pubmed/27735842

Is Doxorubicin cardiotoxic?

Doxorubicin (DOXO) is widely used to treat solid tumors. However, its clinical use is limited by side effects including serious cardiotoxicity due to cardiomyocyte damageDoxorubicin (DOXO) is widely used to treat solid tumors. However, its clinical use is limited by side effects including serious cardiotoxicity due to cardiomyocyte damage.

http://www.ncbi.nlm.nih.gov/pubmed/26934740,http://www.ncbi.nlm.nih.gov/pubmed/22110841,http://www.ncbi.nlm.nih.gov/pubmed/23626516,http://www.ncbi.nlm.nih.gov/pubmed/26405709,http://www.ncbi.nlm.nih.gov/pubmed/16292099,http://www.ncbi.nlm.nih.gov/pubmed/15229406,http://www.ncbi.nlm.nih.gov/pubmed/17900962,http://www.ncbi.nlm.nih.gov/pubmed/18294365,http://www.ncbi.nlm.nih.gov/pubmed/23180957,http://www.ncbi.nlm.nih.gov/pubmed/26908672,http://www.ncbi.nlm.nih.gov/pubmed/20812055,http://www.ncbi.nlm.nih.gov/pubmed/26027272

Which diseases are associated with Primary intestinal lymphangiectasia (PIL)?

Primary intestinal lymphangiectasia (PIL) is associated with: 1) Waldmann's disease and 2) Hennekam syndrome (HS).

http://www.ncbi.nlm.nih.gov/pubmed/10410901,http://www.ncbi.nlm.nih.gov/pubmed/20851541,http://www.ncbi.nlm.nih.gov/pubmed/24228692,http://www.ncbi.nlm.nih.gov/pubmed/8747544,http://www.ncbi.nlm.nih.gov/pubmed/1518820,http://www.ncbi.nlm.nih.gov/pubmed/9369180,http://www.ncbi.nlm.nih.gov/pubmed/8566785

Is the mouse Sry gene locus free of repetitive sequences?

We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells. We have found that in an in vitro assay, the SRY protein binds to several sites of the Sry gene and especially to a (CA)25 sequence and to a (CAG)30 repeat.The presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells.We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells Circularization requires the presence of both IR.We demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells We have found that in an in vitro assay, the SRY protein binds to several sites of the Sry gene and especially to a (CA)25 sequence and to a (CAG)30 repeatWe demonstrate that the presence of long inverted repeats (IR) flanking the mouse Sry gene leads to the formation of the Sry circular transcript in cultured cells

http://www.ncbi.nlm.nih.gov/pubmed/26253404

Is Meis1 implicated in microphthalmia?

Yes. Meis1 coordinates a network of genes implicated in eye development and microphthalmia. Haploinsufficiency of Meis1, which encodes a transcription factor with evolutionarily conserved expression in the embryonic trunk, brain and sensory organs, including the eye, causes microphthalmic traits and visual impairment in adult mice.

http://www.ncbi.nlm.nih.gov/pubmed/15977234,http://www.ncbi.nlm.nih.gov/pubmed/25001601,http://www.ncbi.nlm.nih.gov/pubmed/21423699,http://www.ncbi.nlm.nih.gov/pubmed/11445697,http://www.ncbi.nlm.nih.gov/pubmed/27864924,http://www.ncbi.nlm.nih.gov/pubmed/26872435,http://www.ncbi.nlm.nih.gov/pubmed/22278372,http://www.ncbi.nlm.nih.gov/pubmed/24958171,http://www.ncbi.nlm.nih.gov/pubmed/23341967,http://www.ncbi.nlm.nih.gov/pubmed/20119647,http://www.ncbi.nlm.nih.gov/pubmed/26982005,http://www.ncbi.nlm.nih.gov/pubmed/26717657,http://www.ncbi.nlm.nih.gov/pubmed/25227610,http://www.ncbi.nlm.nih.gov/pubmed/25530683,http://www.ncbi.nlm.nih.gov/pubmed/25048752,http://www.ncbi.nlm.nih.gov/pubmed/25591437,http://www.ncbi.nlm.nih.gov/pubmed/24039869

Can Pentraxin 3 predict outcomes of sepsis?

Yes, Pentraxin 3 s an objective biochemical marker in diagnosis of sepsis; it is helpful in assessment of severity and prognosis of sepsis; it also has a certain clinical value in the assessment of sepsis cardiovascular function damage.

http://www.ncbi.nlm.nih.gov/pubmed/18042145,http://www.ncbi.nlm.nih.gov/pubmed/26473486,http://www.ncbi.nlm.nih.gov/pubmed/18829588,http://www.ncbi.nlm.nih.gov/pubmed/26119101,http://www.ncbi.nlm.nih.gov/pubmed/20144951,http://www.ncbi.nlm.nih.gov/pubmed/21702984,http://www.ncbi.nlm.nih.gov/pubmed/15372072,http://www.ncbi.nlm.nih.gov/pubmed/26149087,http://www.ncbi.nlm.nih.gov/pubmed/21685453,http://www.ncbi.nlm.nih.gov/pubmed/15589161,http://www.ncbi.nlm.nih.gov/pubmed/15525708,http://www.ncbi.nlm.nih.gov/pubmed/21178961,http://www.ncbi.nlm.nih.gov/pubmed/19398578,http://www.ncbi.nlm.nih.gov/pubmed/25730776,http://www.ncbi.nlm.nih.gov/pubmed/20129062,http://www.ncbi.nlm.nih.gov/pubmed/22499686,http://www.ncbi.nlm.nih.gov/pubmed/20655920

Which polymerase transcribes pri-miRNAs?

Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II) we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. The non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail. Recent evidence indicates that miRNA genes are transcribed by RNA polymerase II (Pol II)Previous studies in vivo reported that processing of primary microRNA (pri-miRNA) is coupled to transcription by RNA polymerase II (RNAP II) and can occur co-transcriptionally. we have established a robust in vivo system in which pri-miRNA is transcribed by RNAP II and processed to pre-miRNA in HeLa cell nuclear extracts.Because the transcripts of most miRNA genes are the products of type-II RNA polymerase, pri-miRNA has a poly(A) tail and appears in expressed sequence tags (EST). Analogously to mRNAs, the non-protein-encoding pri-miRNAs are synthesized by RNA polymerase II and post-transcriptionally modified by addition of a 5'-cap and a 3'-poly (A) tail.

http://www.ncbi.nlm.nih.gov/pubmed/22088535,http://www.ncbi.nlm.nih.gov/pubmed/21968110,http://www.ncbi.nlm.nih.gov/pubmed/9170158,http://www.ncbi.nlm.nih.gov/pubmed/8651291,http://www.ncbi.nlm.nih.gov/pubmed/12829739,http://www.ncbi.nlm.nih.gov/pubmed/23112997,http://www.ncbi.nlm.nih.gov/pubmed/24934919,http://www.ncbi.nlm.nih.gov/pubmed/11574907,http://www.ncbi.nlm.nih.gov/pubmed/15381243,http://www.ncbi.nlm.nih.gov/pubmed/16767664,http://www.ncbi.nlm.nih.gov/pubmed/23242301,http://www.ncbi.nlm.nih.gov/pubmed/27775880,http://www.ncbi.nlm.nih.gov/pubmed/10571953,http://www.ncbi.nlm.nih.gov/pubmed/25093188,http://www.ncbi.nlm.nih.gov/pubmed/10713140,http://www.ncbi.nlm.nih.gov/pubmed/16907708,http://www.ncbi.nlm.nih.gov/pubmed/7886000,http://www.ncbi.nlm.nih.gov/pubmed/27537549,http://www.ncbi.nlm.nih.gov/pubmed/1905879,http://www.ncbi.nlm.nih.gov/pubmed/24721949,http://www.ncbi.nlm.nih.gov/pubmed/20447099,http://www.ncbi.nlm.nih.gov/pubmed/9242509,http://www.ncbi.nlm.nih.gov/pubmed/27829221,http://www.ncbi.nlm.nih.gov/pubmed/11641241,http://www.ncbi.nlm.nih.gov/pubmed/25216246,http://www.ncbi.nlm.nih.gov/pubmed/19208379,http://www.ncbi.nlm.nih.gov/pubmed/15146472,http://www.ncbi.nlm.nih.gov/pubmed/22875490,http://www.ncbi.nlm.nih.gov/pubmed/15937636,http://www.ncbi.nlm.nih.gov/pubmed/11284711,http://www.ncbi.nlm.nih.gov/pubmed/12753405,http://www.ncbi.nlm.nih.gov/pubmed/17355913,http://www.ncbi.nlm.nih.gov/pubmed/11041207,http://www.ncbi.nlm.nih.gov/pubmed/25577957,http://www.ncbi.nlm.nih.gov/pubmed/26763160,http://www.ncbi.nlm.nih.gov/pubmed/15635296,http://www.ncbi.nlm.nih.gov/pubmed/10094567,http://www.ncbi.nlm.nih.gov/pubmed/22097729,http://www.ncbi.nlm.nih.gov/pubmed/11153699,http://www.ncbi.nlm.nih.gov/pubmed/25919014,http://www.ncbi.nlm.nih.gov/pubmed/15760344,http://www.ncbi.nlm.nih.gov/pubmed/10671066,http://www.ncbi.nlm.nih.gov/pubmed/10671067,http://www.ncbi.nlm.nih.gov/pubmed/24392141

Which mutated enzyme is responsible for oculocutaneous 1 (OCA1)-type albinism?

Mutations in the gene for tyrosinase (TYR), the key enzyme in melanin synthesis, are responsible for oculocutaneous 1 (OCA1)-type albinism.

http://www.ncbi.nlm.nih.gov/pubmed/22004636,http://www.ncbi.nlm.nih.gov/pubmed/26912284,http://www.ncbi.nlm.nih.gov/pubmed/21351612,http://www.ncbi.nlm.nih.gov/pubmed/20621893,http://www.ncbi.nlm.nih.gov/pubmed/26847487,http://www.ncbi.nlm.nih.gov/pubmed/26564215,http://www.ncbi.nlm.nih.gov/pubmed/8496210,http://www.ncbi.nlm.nih.gov/pubmed/27157656,http://www.ncbi.nlm.nih.gov/pubmed/26254089

Please list 2 treatments for a torn rotator cuff

to compare clinical outcomes between conventional en masse repair and separate double-layer double-row repair for the treatment of delaminated rotator cuff tears.Surgical repair earlier or later than 3 months after injury may result in similar outcomes and patient satisfaction.

http://www.ncbi.nlm.nih.gov/pubmed/26722845,http://www.ncbi.nlm.nih.gov/pubmed/26384598,http://www.ncbi.nlm.nih.gov/pubmed/27861323,http://www.ncbi.nlm.nih.gov/pubmed/27838155,http://www.ncbi.nlm.nih.gov/pubmed/23560574,http://www.ncbi.nlm.nih.gov/pubmed/27690658,http://www.ncbi.nlm.nih.gov/pubmed/22044371,http://www.ncbi.nlm.nih.gov/pubmed/25727222,http://www.ncbi.nlm.nih.gov/pubmed/26113069,http://www.ncbi.nlm.nih.gov/pubmed/18838327,http://www.ncbi.nlm.nih.gov/pubmed/27861322,http://www.ncbi.nlm.nih.gov/pubmed/24056317,http://www.ncbi.nlm.nih.gov/pubmed/24810945,http://www.ncbi.nlm.nih.gov/pubmed/24994550,http://www.ncbi.nlm.nih.gov/pubmed/27659837,http://www.ncbi.nlm.nih.gov/pubmed/27690657,http://www.ncbi.nlm.nih.gov/pubmed/25434378

What is the role of Laser Interstitial Thermal Therapy in glioma treatment?

Laser Interstitial Thermal Therapy (LITT) is used in treatment of gliomas. LITT can be used effectively for treatment of difficult-to-access high-grade gliomas. More complete coverage of tumor improves progression free survival which can be translated as the extent of resection concept for surgery.

http://www.ncbi.nlm.nih.gov/pubmed/20711347,http://www.ncbi.nlm.nih.gov/pubmed/15045029,http://www.ncbi.nlm.nih.gov/pubmed/23816883,http://www.ncbi.nlm.nih.gov/pubmed/17470967,http://www.ncbi.nlm.nih.gov/pubmed/21111233,http://www.ncbi.nlm.nih.gov/pubmed/23580526,http://www.ncbi.nlm.nih.gov/pubmed/18726008,http://www.ncbi.nlm.nih.gov/pubmed/22910211,http://www.ncbi.nlm.nih.gov/pubmed/19910462,http://www.ncbi.nlm.nih.gov/pubmed/24507717,http://www.ncbi.nlm.nih.gov/pubmed/17289584,http://www.ncbi.nlm.nih.gov/pubmed/19966225,http://www.ncbi.nlm.nih.gov/pubmed/16299513,http://www.ncbi.nlm.nih.gov/pubmed/27463665,http://www.ncbi.nlm.nih.gov/pubmed/26116819,http://www.ncbi.nlm.nih.gov/pubmed/17142478,http://www.ncbi.nlm.nih.gov/pubmed/19088068

Which protein mediates the replacement of H2A by H2A.Z in the yeast Saccharomyces cerevisiae?

Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z. We identified a complex containing 13 different polypeptides associated with a soluble pool of H2A.Z in Saccharomyces cerevisiae.The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z. The SWR1 complex replaces the canonical histone H2A with the variant H2A.Z (Htz1 in yeast) at specific chromatin regions.The multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z.The chromatin remodeler SWR1 mediates site-specific incorporation of H2A.Z by a multi-step histone replacement reaction, evicting histone H2A-H2B from the canonical nucleosome and depositing the H2A.Z-H2B dimerThe multisubunit nucleosome-remodeling enzyme complex SWR1, conserved from yeast to mammals, catalyzes the ATP-dependent replacement of histone H2A in canonical nucleosomes with H2A.Z. Saccharomyces cerevisiae Swr1, a Swi2/Snf2-related ATPase, is the catalytic core of a multisubunit chromatin remodeling enzyme, called the SWR1 complex, that efficiently replaces conventional histone H2A in nucleosomes with histone H2A.Z.

http://www.ncbi.nlm.nih.gov/pubmed/26395491,http://www.ncbi.nlm.nih.gov/pubmed/27606337

Which are the key players on radial glial specification to ependymal cells?

Mcidas and GemC1/Lynkeas specify embryonic radial glial cells. Both proteins were initially described as cell cycle regulators revealing sequence similarity to Geminin. They are expressed in radial glial cells committed to the ependymal cell lineage during embryogenesis, while overexpression and knock down experiments showed that are sufficient and necessary for ependymal cell generation.

http://www.ncbi.nlm.nih.gov/pubmed/21670341,http://www.ncbi.nlm.nih.gov/pubmed/12647250,http://www.ncbi.nlm.nih.gov/pubmed/9442799,http://www.ncbi.nlm.nih.gov/pubmed/8292886,http://www.ncbi.nlm.nih.gov/pubmed/23681424,http://www.ncbi.nlm.nih.gov/pubmed/6677847,http://www.ncbi.nlm.nih.gov/pubmed/1520683

Is ocular melanosis a risk factor for uveal melanoma?

Yes, ocular melanosis (melanosis oculi) is a risk factor for uveal melanoma.

http://www.ncbi.nlm.nih.gov/pubmed/25393133,http://www.ncbi.nlm.nih.gov/pubmed/26853993,http://www.ncbi.nlm.nih.gov/pubmed/25070535,http://www.ncbi.nlm.nih.gov/pubmed/26919486

What is known about telomere length shortening and stress?

A significant relationship between more perceived stress and shorter telomere length is consistent with theoretical frameworks positing that stress induces physiological changes that result in shortened telomeres.

http://www.ncbi.nlm.nih.gov/pubmed/6488562,http://www.ncbi.nlm.nih.gov/pubmed/8185109,http://www.ncbi.nlm.nih.gov/pubmed/26324727,http://www.ncbi.nlm.nih.gov/pubmed/23259140,http://www.ncbi.nlm.nih.gov/pubmed/16099087,http://www.ncbi.nlm.nih.gov/pubmed/3548729,http://www.ncbi.nlm.nih.gov/pubmed/26328472,http://www.ncbi.nlm.nih.gov/pubmed/25531872

What fruit causes Jamaican vomiting sickness?

Jamaican Vomiting Sickness is caused by ingestion of the unripe arils of the Ackee fruit, its seeds and husks.

http://www.ncbi.nlm.nih.gov/pubmed/16783378,http://www.ncbi.nlm.nih.gov/pubmed/26001724,http://www.ncbi.nlm.nih.gov/pubmed/20938027,http://www.ncbi.nlm.nih.gov/pubmed/27884548,http://www.ncbi.nlm.nih.gov/pubmed/18443314,http://www.ncbi.nlm.nih.gov/pubmed/24130795

Which gene is mutated in the Karak syndrome?

PLA2G6 gene is mutated in the Karak syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/26628586

What is LedPred?

LedPred is an R/bioconductor package to predict regulatory sequences using support vector machines. LedPred is provided as an R/Bioconductor package connected to an online server to avoid installation of non-R software. Due to the heterogeneous CRM feature integration, LedPred excels at the prediction of regulatory sequences in Drosophila and mouse datasets compared with similar SVM-based software.

http://www.ncbi.nlm.nih.gov/pubmed/25310208,http://www.ncbi.nlm.nih.gov/pubmed/26124203,http://www.ncbi.nlm.nih.gov/pubmed/25042199,http://www.ncbi.nlm.nih.gov/pubmed/25601959,http://www.ncbi.nlm.nih.gov/pubmed/26327301,http://www.ncbi.nlm.nih.gov/pubmed/25110138,http://www.ncbi.nlm.nih.gov/pubmed/26749192,http://www.ncbi.nlm.nih.gov/pubmed/25736164,http://www.ncbi.nlm.nih.gov/pubmed/26634298,http://www.ncbi.nlm.nih.gov/pubmed/25784388,http://www.ncbi.nlm.nih.gov/pubmed/25873122,http://www.ncbi.nlm.nih.gov/pubmed/20625121,http://www.ncbi.nlm.nih.gov/pubmed/27152394,http://www.ncbi.nlm.nih.gov/pubmed/25685858,http://www.ncbi.nlm.nih.gov/pubmed/26394632,http://www.ncbi.nlm.nih.gov/pubmed/26869762,http://www.ncbi.nlm.nih.gov/pubmed/23659971,http://www.ncbi.nlm.nih.gov/pubmed/25884809

Is siltuximab effective for Castleman disease?

Yes, siltuximab , a chimeric human-mouse monoclonal antibody to IL6, is approved for the treatment of patients with multicentric Castleman disease who are human immunodeficiency virus negative and human herpesvirus-8 negative.

http://www.ncbi.nlm.nih.gov/pubmed/7731961,http://www.ncbi.nlm.nih.gov/pubmed/23960079,http://www.ncbi.nlm.nih.gov/pubmed/10545113,http://www.ncbi.nlm.nih.gov/pubmed/26743630,http://www.ncbi.nlm.nih.gov/pubmed/20924402,http://www.ncbi.nlm.nih.gov/pubmed/23271452,http://www.ncbi.nlm.nih.gov/pubmed/16606826,http://www.ncbi.nlm.nih.gov/pubmed/22577142,http://www.ncbi.nlm.nih.gov/pubmed/21190544,http://www.ncbi.nlm.nih.gov/pubmed/26732515,http://www.ncbi.nlm.nih.gov/pubmed/25157437,http://www.ncbi.nlm.nih.gov/pubmed/23431188,http://www.ncbi.nlm.nih.gov/pubmed/26435348,http://www.ncbi.nlm.nih.gov/pubmed/18698327,http://www.ncbi.nlm.nih.gov/pubmed/19878048,http://www.ncbi.nlm.nih.gov/pubmed/21633985,http://www.ncbi.nlm.nih.gov/pubmed/26456660,http://www.ncbi.nlm.nih.gov/pubmed/20835240

What are Degrons?

Specific signals (degrons) regulate protein turnover mediated by the ubiquitin-proteasome system.Portable degradation sequences, or degrons, have the ability to bind to E3 ligases and promote substrate ubiquitination when the sequence is presented in isolation or appended to other entities such as fluorescent peptide-based reporters.portable degradation sequences, or degrons, have the ability to bind to e3 ligases and promote substrate ubiquitination when the sequence is presented in isolation or appended to other entities such as fluorescent peptide-based reporters.

http://www.ncbi.nlm.nih.gov/pubmed/26130484,http://www.ncbi.nlm.nih.gov/pubmed/26893459,http://www.ncbi.nlm.nih.gov/pubmed/25542770,http://www.ncbi.nlm.nih.gov/pubmed/26250054

Which disease is associated with mutated Sox2?

SOX2 anophthalmia syndrome is an uncommon autosomal dominant syndrome caused by mutations in the SOX2 gene and clinically characterized by severe eye malformations (anophthalmia/microphthalmia) and extraocular anomalies mainly involving brain, esophagus, and genitalia.

http://www.ncbi.nlm.nih.gov/pubmed/27729295,http://www.ncbi.nlm.nih.gov/pubmed/21220307,http://www.ncbi.nlm.nih.gov/pubmed/19647514,http://www.ncbi.nlm.nih.gov/pubmed/23071094

Is the enzyme EPRS phosphorylated?

Yes, EPRS is dually phosphorylated by cyclin-dependent kinase 5 (Cdk5) at Ser(886) and then by a Cdk5-dependent-AGC kinase at Ser(999)

http://www.ncbi.nlm.nih.gov/pubmed/11259927,http://www.ncbi.nlm.nih.gov/pubmed/24575162,http://www.ncbi.nlm.nih.gov/pubmed/17429587,http://www.ncbi.nlm.nih.gov/pubmed/730866,http://www.ncbi.nlm.nih.gov/pubmed/8261754,http://www.ncbi.nlm.nih.gov/pubmed/16060710,http://www.ncbi.nlm.nih.gov/pubmed/18357585,http://www.ncbi.nlm.nih.gov/pubmed/7851128,http://www.ncbi.nlm.nih.gov/pubmed/12183729,http://www.ncbi.nlm.nih.gov/pubmed/18377597,http://www.ncbi.nlm.nih.gov/pubmed/8733162,http://www.ncbi.nlm.nih.gov/pubmed/20537071,http://www.ncbi.nlm.nih.gov/pubmed/7501550,http://www.ncbi.nlm.nih.gov/pubmed/18092383,http://www.ncbi.nlm.nih.gov/pubmed/23762652,http://www.ncbi.nlm.nih.gov/pubmed/3351015,http://www.ncbi.nlm.nih.gov/pubmed/19715570,http://www.ncbi.nlm.nih.gov/pubmed/24283101,http://www.ncbi.nlm.nih.gov/pubmed/27016885,http://www.ncbi.nlm.nih.gov/pubmed/25266162,http://www.ncbi.nlm.nih.gov/pubmed/23969033,http://www.ncbi.nlm.nih.gov/pubmed/2102235,http://www.ncbi.nlm.nih.gov/pubmed/20524475,http://www.ncbi.nlm.nih.gov/pubmed/19380665,http://www.ncbi.nlm.nih.gov/pubmed/18718195,http://www.ncbi.nlm.nih.gov/pubmed/12180894,http://www.ncbi.nlm.nih.gov/pubmed/23595890,http://www.ncbi.nlm.nih.gov/pubmed/26975548

Which disease the skin condition Necrobiosis lipoidica diabeticorum is associated to?

Necrobiosis lipoidica diabeticorum (NLD) is a rare, granulomatous inflammatory skin disease of unknown origin, sometimes associated with diabetes mellitus.

http://www.ncbi.nlm.nih.gov/pubmed/24681537

What is the role of Lysine 2-hydroxyisobutyrylation?

Lysine 2-hydroxyisobutyrylation (Khib) is a widely distributed active histone mark. This histone mark was initially identified by MS and then validated by chemical and biochemical methods. Histone Khib shows distinct genomic distributions from histone Kac or histone Kcr during male germ cell differentiation. In male germ cells, H4K8hib is associated with active gene transcription in meiotic and post-meiotic cells. In addition, H4K8ac-associated genes are included in and constitute only a subfraction of H4K8hib-labeled genes. The histone Khib mark is conserved and widely distributed, has high stoichiometry and induces a large structural change.

http://www.ncbi.nlm.nih.gov/pubmed/22610946,http://www.ncbi.nlm.nih.gov/pubmed/25659462,http://www.ncbi.nlm.nih.gov/pubmed/25983551

List diseases associated with the Dopamine Receptor D4 (DRD4).

The 5-repeat allele of a common length polymorphism in the gene that encodes the dopamine D4 receptor (DRD4) is robustly associated with the risk of attention deficit hyperactivity disorder (ADHD).

http://www.ncbi.nlm.nih.gov/pubmed/8784575,http://www.ncbi.nlm.nih.gov/pubmed/24403054,http://www.ncbi.nlm.nih.gov/pubmed/7766139,http://www.ncbi.nlm.nih.gov/pubmed/23981100,http://www.ncbi.nlm.nih.gov/pubmed/14532240,http://www.ncbi.nlm.nih.gov/pubmed/23357389,http://www.ncbi.nlm.nih.gov/pubmed/812306,http://www.ncbi.nlm.nih.gov/pubmed/22205447,http://www.ncbi.nlm.nih.gov/pubmed/21087580,http://www.ncbi.nlm.nih.gov/pubmed/25578079,http://www.ncbi.nlm.nih.gov/pubmed/21549738,http://www.ncbi.nlm.nih.gov/pubmed/1901182,http://www.ncbi.nlm.nih.gov/pubmed/25887321,http://www.ncbi.nlm.nih.gov/pubmed/23163039,http://www.ncbi.nlm.nih.gov/pubmed/21742447,http://www.ncbi.nlm.nih.gov/pubmed/26607400,http://www.ncbi.nlm.nih.gov/pubmed/22403045,http://www.ncbi.nlm.nih.gov/pubmed/22583953,http://www.ncbi.nlm.nih.gov/pubmed/25320226,http://www.ncbi.nlm.nih.gov/pubmed/16107839,http://www.ncbi.nlm.nih.gov/pubmed/24295558,http://www.ncbi.nlm.nih.gov/pubmed/12661461,http://www.ncbi.nlm.nih.gov/pubmed/10220818,http://www.ncbi.nlm.nih.gov/pubmed/12037265,http://www.ncbi.nlm.nih.gov/pubmed/25297035,http://www.ncbi.nlm.nih.gov/pubmed/22568715,http://www.ncbi.nlm.nih.gov/pubmed/10598381,http://www.ncbi.nlm.nih.gov/pubmed/16406634,http://www.ncbi.nlm.nih.gov/pubmed/24293345,http://www.ncbi.nlm.nih.gov/pubmed/22628666,http://www.ncbi.nlm.nih.gov/pubmed/25587356,http://www.ncbi.nlm.nih.gov/pubmed/18583986,http://www.ncbi.nlm.nih.gov/pubmed/24106714,http://www.ncbi.nlm.nih.gov/pubmed/3112181,http://www.ncbi.nlm.nih.gov/pubmed/10932611,http://www.ncbi.nlm.nih.gov/pubmed/24572455,http://www.ncbi.nlm.nih.gov/pubmed/11568853,http://www.ncbi.nlm.nih.gov/pubmed/22382258

Which bacteria cause diphtheria?

Diphtheria is caused by the bacteria: 1) Corynebacterium ulcerans and 2) Corynebacterium diphtheriae.

http://www.ncbi.nlm.nih.gov/pubmed/23856267,http://www.ncbi.nlm.nih.gov/pubmed/21566074,http://www.ncbi.nlm.nih.gov/pubmed/26608608,http://www.ncbi.nlm.nih.gov/pubmed/26386835,http://www.ncbi.nlm.nih.gov/pubmed/26261299

What is the function of calcium-sensing receptor (CaSR)?

The calcium-sensing receptor (CaSR) is a G-protein-coupled receptor that plays an essential role in maintaining calcium homeostasis. The CaSR is a key regulator for such diverse processes as hormone secretion, gene expression, inflammation, proliferation, differentiation, and apoptosis. Due to this pleiotropy, the CaSR is able to regulate cell fate and is implicated in the development of many types of benign or malignant tumours of the breast, prostate, parathyroid, and colon.

http://www.ncbi.nlm.nih.gov/pubmed/23594025,http://www.ncbi.nlm.nih.gov/pubmed/27039826,http://www.ncbi.nlm.nih.gov/pubmed/27788026

List drug that were evaluated in the CHAMP trial for migraine.

Childhood and Adolescent Migraine Prevention (CHAMP) trial evaluated effectiveness of amitriptyline and topiramate in the prevention of migraine in children and adolescents.

http://www.ncbi.nlm.nih.gov/pubmed/26782741,http://www.ncbi.nlm.nih.gov/pubmed/26898120,http://www.ncbi.nlm.nih.gov/pubmed/27914933,http://www.ncbi.nlm.nih.gov/pubmed/26850179,http://www.ncbi.nlm.nih.gov/pubmed/25692120,http://www.ncbi.nlm.nih.gov/pubmed/25807634,http://www.ncbi.nlm.nih.gov/pubmed/25182570,http://www.ncbi.nlm.nih.gov/pubmed/25548255

What is the role of IL-18BP?

IL-18 binding protein (IL-18BP) is a natural inhibitor of IL-18. The balance between IL-18 and IL-18BP has an important role in the inflammatory setting.

http://www.ncbi.nlm.nih.gov/pubmed/24124207,http://www.ncbi.nlm.nih.gov/pubmed/22081613,http://www.ncbi.nlm.nih.gov/pubmed/17803944,http://www.ncbi.nlm.nih.gov/pubmed/21835917,http://www.ncbi.nlm.nih.gov/pubmed/19602510,http://www.ncbi.nlm.nih.gov/pubmed/18550805

Which protein mediates gene loop formation in the yeast S. cerevisiae?

Moreover, looping is dependent upon the general transcription factor TFIIB: the E62K (glutamic acid 62 --> lysine) form of TFIIB adversely affects looping at every gene tested, including BLM10, SAC3, GAL10, SEN1, and HEM3. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP.Gene-loop formation is dependent on regulatory proteins localized at the 5' and 3' ends of genes, such as TFIIB. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBPGene looping, defined as the interaction of the promoter and the terminator regions of a gene during transcription, requires transcription factor IIB (TFIIB).A transcription-independent role for TFIIB in gene looping.

http://www.ncbi.nlm.nih.gov/pubmed/25173541,http://www.ncbi.nlm.nih.gov/pubmed/26424386,http://www.ncbi.nlm.nih.gov/pubmed/25294786,http://www.ncbi.nlm.nih.gov/pubmed/24657685,http://www.ncbi.nlm.nih.gov/pubmed/27463942,http://www.ncbi.nlm.nih.gov/pubmed/22298161,http://www.ncbi.nlm.nih.gov/pubmed/25498373,http://www.ncbi.nlm.nih.gov/pubmed/24281250,http://www.ncbi.nlm.nih.gov/pubmed/22449118,http://www.ncbi.nlm.nih.gov/pubmed/22933567,http://www.ncbi.nlm.nih.gov/pubmed/22572202,http://www.ncbi.nlm.nih.gov/pubmed/26447668,http://www.ncbi.nlm.nih.gov/pubmed/23036896,http://www.ncbi.nlm.nih.gov/pubmed/21740079,http://www.ncbi.nlm.nih.gov/pubmed/25332806,http://www.ncbi.nlm.nih.gov/pubmed/26839066,http://www.ncbi.nlm.nih.gov/pubmed/23619028,http://www.ncbi.nlm.nih.gov/pubmed/23026665,http://www.ncbi.nlm.nih.gov/pubmed/22056819,http://www.ncbi.nlm.nih.gov/pubmed/24561548,http://www.ncbi.nlm.nih.gov/pubmed/22787066,http://www.ncbi.nlm.nih.gov/pubmed/23859143,http://www.ncbi.nlm.nih.gov/pubmed/23883416,http://www.ncbi.nlm.nih.gov/pubmed/25547937,http://www.ncbi.nlm.nih.gov/pubmed/23796193,http://www.ncbi.nlm.nih.gov/pubmed/22684583,http://www.ncbi.nlm.nih.gov/pubmed/25854636,http://www.ncbi.nlm.nih.gov/pubmed/22277459,http://www.ncbi.nlm.nih.gov/pubmed/25497244,http://www.ncbi.nlm.nih.gov/pubmed/27306620,http://www.ncbi.nlm.nih.gov/pubmed/23869941

Which two drugs were compared in the ARISTOTLE Trial?

Apixaban for Reduction In Stroke and Other Thromboembolic Events in Atrial Fibrillation (ARISTOTLE) trial compared apixaban and warfarin.

http://www.ncbi.nlm.nih.gov/pubmed/21789182

What is REVIGO?

REVIGO summarizes and visualizes long lists of gene ontology terms.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views. REVIGO is freely available at http://revigo.irb.hr/.Outcomes of high-throughput biological experiments are typically interpreted by statistical testing for enriched gene functional categories defined by the Gene Ontology (GO). The resulting lists of GO terms may be large and highly redundant, and thus difficult to interpret.REVIGO is a Web server that summarizes long, unintelligible lists of GO terms by finding a representative subset of the terms using a simple clustering algorithm that relies on semantic similarity measures. Furthermore, REVIGO visualizes this non-redundant GO term set in multiple ways to assist in interpretation: multidimensional scaling and graph-based visualizations accurately render the subdivisions and the semantic relationships in the data, while treemaps and tag clouds are also offered as alternative views. REVIGO is freely available at http://revigo.irb.hr/.

http://www.ncbi.nlm.nih.gov/pubmed/23922054,http://www.ncbi.nlm.nih.gov/pubmed/22917884,http://www.ncbi.nlm.nih.gov/pubmed/25806189,http://www.ncbi.nlm.nih.gov/pubmed/27937096,http://www.ncbi.nlm.nih.gov/pubmed/25074413,http://www.ncbi.nlm.nih.gov/pubmed/27349303,http://www.ncbi.nlm.nih.gov/pubmed/24101053,http://www.ncbi.nlm.nih.gov/pubmed/27918764,http://www.ncbi.nlm.nih.gov/pubmed/24687921,http://www.ncbi.nlm.nih.gov/pubmed/26445503,http://www.ncbi.nlm.nih.gov/pubmed/23894056,http://www.ncbi.nlm.nih.gov/pubmed/25522765,http://www.ncbi.nlm.nih.gov/pubmed/24493831,http://www.ncbi.nlm.nih.gov/pubmed/25777467,http://www.ncbi.nlm.nih.gov/pubmed/24258345,http://www.ncbi.nlm.nih.gov/pubmed/24959087,http://www.ncbi.nlm.nih.gov/pubmed/27856142,http://www.ncbi.nlm.nih.gov/pubmed/23882082,http://www.ncbi.nlm.nih.gov/pubmed/27401892,http://www.ncbi.nlm.nih.gov/pubmed/27918718,http://www.ncbi.nlm.nih.gov/pubmed/23063071,http://www.ncbi.nlm.nih.gov/pubmed/23536720,http://www.ncbi.nlm.nih.gov/pubmed/25818471,http://www.ncbi.nlm.nih.gov/pubmed/23810377

What is the mechanism of action of onartuzumab?

Onartuzumab is monoclonal antibody targeting MET. It works by inhibiting MET. Onartuzumab was tested for treatment of non-small cell lung carcinoma, adenocarcinoma of the stomach and gastroesophageal Junction, and recurrent glioblastoma.

http://www.ncbi.nlm.nih.gov/pubmed/25267439,http://www.ncbi.nlm.nih.gov/pubmed/19996075,http://www.ncbi.nlm.nih.gov/pubmed/26857494,http://www.ncbi.nlm.nih.gov/pubmed/25666875,http://www.ncbi.nlm.nih.gov/pubmed/26604134,http://www.ncbi.nlm.nih.gov/pubmed/26732544,http://www.ncbi.nlm.nih.gov/pubmed/18388800,http://www.ncbi.nlm.nih.gov/pubmed/27120609,http://www.ncbi.nlm.nih.gov/pubmed/24679343,http://www.ncbi.nlm.nih.gov/pubmed/1839591,http://www.ncbi.nlm.nih.gov/pubmed/25750917,http://www.ncbi.nlm.nih.gov/pubmed/23634189,http://www.ncbi.nlm.nih.gov/pubmed/18474519,http://www.ncbi.nlm.nih.gov/pubmed/18388801,http://www.ncbi.nlm.nih.gov/pubmed/20558389,http://www.ncbi.nlm.nih.gov/pubmed/20970478,http://www.ncbi.nlm.nih.gov/pubmed/24526661,http://www.ncbi.nlm.nih.gov/pubmed/26724102,http://www.ncbi.nlm.nih.gov/pubmed/18388796,http://www.ncbi.nlm.nih.gov/pubmed/20535037,http://www.ncbi.nlm.nih.gov/pubmed/26810546,http://www.ncbi.nlm.nih.gov/pubmed/25620021,http://www.ncbi.nlm.nih.gov/pubmed/25895531,http://www.ncbi.nlm.nih.gov/pubmed/21216828,http://www.ncbi.nlm.nih.gov/pubmed/15800022

Is there a relationship between B cells and Multiple Sclerosis?

MS patients with high neurodegeneration have changes in B cells characterized by down-regulation of B-cell-specific genes and increased activation status

http://www.ncbi.nlm.nih.gov/pubmed/16390992,http://www.ncbi.nlm.nih.gov/pubmed/23372568,http://www.ncbi.nlm.nih.gov/pubmed/24155912,http://www.ncbi.nlm.nih.gov/pubmed/18950398,http://www.ncbi.nlm.nih.gov/pubmed/18616033,http://www.ncbi.nlm.nih.gov/pubmed/9275219,http://www.ncbi.nlm.nih.gov/pubmed/25186152,http://www.ncbi.nlm.nih.gov/pubmed/9525670,http://www.ncbi.nlm.nih.gov/pubmed/3814509,http://www.ncbi.nlm.nih.gov/pubmed/22688765,http://www.ncbi.nlm.nih.gov/pubmed/22301546,http://www.ncbi.nlm.nih.gov/pubmed/8938977,http://www.ncbi.nlm.nih.gov/pubmed/21802105,http://www.ncbi.nlm.nih.gov/pubmed/26672647,http://www.ncbi.nlm.nih.gov/pubmed/24491904,http://www.ncbi.nlm.nih.gov/pubmed/881573,http://www.ncbi.nlm.nih.gov/pubmed/23598933,http://www.ncbi.nlm.nih.gov/pubmed/8850036,http://www.ncbi.nlm.nih.gov/pubmed/24155550,http://www.ncbi.nlm.nih.gov/pubmed/15284701,http://www.ncbi.nlm.nih.gov/pubmed/21228810,http://www.ncbi.nlm.nih.gov/pubmed/22262788,http://www.ncbi.nlm.nih.gov/pubmed/10500212,http://www.ncbi.nlm.nih.gov/pubmed/10502526,http://www.ncbi.nlm.nih.gov/pubmed/25072249,http://www.ncbi.nlm.nih.gov/pubmed/12552001

Which virus type causes Molluscum contagiosum?

Molluscum contagiosum virus (MCV) is a human poxvirus that causes tumor-like skin lesions.

http://www.ncbi.nlm.nih.gov/pubmed/25606403,http://www.ncbi.nlm.nih.gov/pubmed/20100466,http://www.ncbi.nlm.nih.gov/pubmed/7717398,http://www.ncbi.nlm.nih.gov/pubmed/2220809,http://www.ncbi.nlm.nih.gov/pubmed/15108204,http://www.ncbi.nlm.nih.gov/pubmed/9073025

Which disease(s) are caused by HEX A deficiency?

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses.

http://www.ncbi.nlm.nih.gov/pubmed/22041429,http://www.ncbi.nlm.nih.gov/pubmed/14761134,http://www.ncbi.nlm.nih.gov/pubmed/26868128,http://www.ncbi.nlm.nih.gov/pubmed/22310876,http://www.ncbi.nlm.nih.gov/pubmed/12755969,http://www.ncbi.nlm.nih.gov/pubmed/25447032,http://www.ncbi.nlm.nih.gov/pubmed/10511031,http://www.ncbi.nlm.nih.gov/pubmed/26740268,http://www.ncbi.nlm.nih.gov/pubmed/25610186,http://www.ncbi.nlm.nih.gov/pubmed/10195724,http://www.ncbi.nlm.nih.gov/pubmed/27914129

What is Behçet's disease

Behet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology.Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology.Behçet's disease (BD) is a complex chronic relapsing inflammatory disorder of unknown etiology. behçet's disease (bd) is a complex chronic relapsing inflammatory disorder of unknown etiology.

http://www.ncbi.nlm.nih.gov/pubmed/17041851,http://www.ncbi.nlm.nih.gov/pubmed/26463167,http://www.ncbi.nlm.nih.gov/pubmed/16239527,http://www.ncbi.nlm.nih.gov/pubmed/21859946,http://www.ncbi.nlm.nih.gov/pubmed/26123398,http://www.ncbi.nlm.nih.gov/pubmed/25928467,http://www.ncbi.nlm.nih.gov/pubmed/25974210,http://www.ncbi.nlm.nih.gov/pubmed/16714568,http://www.ncbi.nlm.nih.gov/pubmed/19629028,http://www.ncbi.nlm.nih.gov/pubmed/12474416,http://www.ncbi.nlm.nih.gov/pubmed/16964684,http://www.ncbi.nlm.nih.gov/pubmed/24721571,http://www.ncbi.nlm.nih.gov/pubmed/25691593

Does Yersinia pestis causes a respiratory infection?

Inhalation of Yersinia pestis results in primary pneumonic plague.

http://www.ncbi.nlm.nih.gov/pubmed/17227286,http://www.ncbi.nlm.nih.gov/pubmed/9554323,http://www.ncbi.nlm.nih.gov/pubmed/15479310,http://www.ncbi.nlm.nih.gov/pubmed/16831112,http://www.ncbi.nlm.nih.gov/pubmed/18219560,http://www.ncbi.nlm.nih.gov/pubmed/16546007,http://www.ncbi.nlm.nih.gov/pubmed/16027765,http://www.ncbi.nlm.nih.gov/pubmed/21274361,http://www.ncbi.nlm.nih.gov/pubmed/25661549,http://www.ncbi.nlm.nih.gov/pubmed/25895022,http://www.ncbi.nlm.nih.gov/pubmed/18619194,http://www.ncbi.nlm.nih.gov/pubmed/10804045,http://www.ncbi.nlm.nih.gov/pubmed/25223901,http://www.ncbi.nlm.nih.gov/pubmed/27038550,http://www.ncbi.nlm.nih.gov/pubmed/21142259,http://www.ncbi.nlm.nih.gov/pubmed/26137782,http://www.ncbi.nlm.nih.gov/pubmed/15155135,http://www.ncbi.nlm.nih.gov/pubmed/12043548,http://www.ncbi.nlm.nih.gov/pubmed/18264876,http://www.ncbi.nlm.nih.gov/pubmed/23859696

List 3 indications for Bupropion

Bupropion is used to treat Obesity, for smoking cessation and for depression

http://www.ncbi.nlm.nih.gov/pubmed/19138672,http://www.ncbi.nlm.nih.gov/pubmed/12732850,http://www.ncbi.nlm.nih.gov/pubmed/17494694,http://www.ncbi.nlm.nih.gov/pubmed/24712408,http://www.ncbi.nlm.nih.gov/pubmed/27164337,http://www.ncbi.nlm.nih.gov/pubmed/8798665,http://www.ncbi.nlm.nih.gov/pubmed/17519046,http://www.ncbi.nlm.nih.gov/pubmed/23744350,http://www.ncbi.nlm.nih.gov/pubmed/24503763,http://www.ncbi.nlm.nih.gov/pubmed/21069436,http://www.ncbi.nlm.nih.gov/pubmed/11932420,http://www.ncbi.nlm.nih.gov/pubmed/22442658,http://www.ncbi.nlm.nih.gov/pubmed/11340567,http://www.ncbi.nlm.nih.gov/pubmed/17074758,http://www.ncbi.nlm.nih.gov/pubmed/16679323,http://www.ncbi.nlm.nih.gov/pubmed/23784543,http://www.ncbi.nlm.nih.gov/pubmed/20885444,http://www.ncbi.nlm.nih.gov/pubmed/23475110,http://www.ncbi.nlm.nih.gov/pubmed/19680558,http://www.ncbi.nlm.nih.gov/pubmed/24269152,http://www.ncbi.nlm.nih.gov/pubmed/8600029,http://www.ncbi.nlm.nih.gov/pubmed/8887678,http://www.ncbi.nlm.nih.gov/pubmed/20723427,http://www.ncbi.nlm.nih.gov/pubmed/9565621,http://www.ncbi.nlm.nih.gov/pubmed/25497728,http://www.ncbi.nlm.nih.gov/pubmed/12213925,http://www.ncbi.nlm.nih.gov/pubmed/26395559,http://www.ncbi.nlm.nih.gov/pubmed/15642728,http://www.ncbi.nlm.nih.gov/pubmed/18547146,http://www.ncbi.nlm.nih.gov/pubmed/26252372,http://www.ncbi.nlm.nih.gov/pubmed/10669738

What is the function of BAX

BAX is a central death regulator that controls apoptosis in normal and cancer cellspro-apoptotic protein Bax

http://www.ncbi.nlm.nih.gov/pubmed/23334284,http://www.ncbi.nlm.nih.gov/pubmed/17222391,http://www.ncbi.nlm.nih.gov/pubmed/15226378,http://www.ncbi.nlm.nih.gov/pubmed/27397686,http://www.ncbi.nlm.nih.gov/pubmed/23036200

What is the link between Ctf4 and Chl1 in cohesion establishment?

Ctf4 links DNA replication with sister chromatid cohesion establishment by recruiting the Chl1 helicase to the replisome. The Eco1 acetyltransferase, helped by factors including Ctf4 and Chl1, concomitantly acetylates the chromosomal cohesin complex to stabilize its cohesive links.Genetic analyses revealed that Rmi1 promoted sister chromatid cohesion in a process that was distinct from both the cohesion establishment pathway involving Ctf4, Csm3, and Chl1 and the pathway involving the acetylation of Smc3. Thus, Ctf4 and Chl1 delineate an additional acetylation-independent pathway that might hold important clues as to the mechanism of sister chromatid cohesion establishment.

http://www.ncbi.nlm.nih.gov/pubmed/19853733,http://www.ncbi.nlm.nih.gov/pubmed/26217101,http://www.ncbi.nlm.nih.gov/pubmed/26962779,http://www.ncbi.nlm.nih.gov/pubmed/8650761,http://www.ncbi.nlm.nih.gov/pubmed/23229460,http://www.ncbi.nlm.nih.gov/pubmed/23316917,http://www.ncbi.nlm.nih.gov/pubmed/24449480,http://www.ncbi.nlm.nih.gov/pubmed/23626516,http://www.ncbi.nlm.nih.gov/pubmed/26405709,http://www.ncbi.nlm.nih.gov/pubmed/18855225,http://www.ncbi.nlm.nih.gov/pubmed/16292099,http://www.ncbi.nlm.nih.gov/pubmed/22110841,http://www.ncbi.nlm.nih.gov/pubmed/19887697,http://www.ncbi.nlm.nih.gov/pubmed/18294365,http://www.ncbi.nlm.nih.gov/pubmed/23180957,http://www.ncbi.nlm.nih.gov/pubmed/26908672,http://www.ncbi.nlm.nih.gov/pubmed/25943403,http://www.ncbi.nlm.nih.gov/pubmed/20812055,http://www.ncbi.nlm.nih.gov/pubmed/26169531

How is primary intestinal lymphangiectasia (PIL) caused?

Primary intestinal lymphangiectasia (PIL) is a rare disorder characterized by diffuse or localized dilation and eventual rupture of the enteric lymphatic vessels in mucosa, submucosa, and/or subserosa. Lymph, rich in all kinds of proteins and lymphocytes, leaks into the gastrointestinal tract via the affected lymphatic vessels causing hypoproteinemia and lymphopenia.

http://www.ncbi.nlm.nih.gov/pubmed/26873821,http://www.ncbi.nlm.nih.gov/pubmed/27725718,http://www.ncbi.nlm.nih.gov/pubmed/25840006,http://www.ncbi.nlm.nih.gov/pubmed/26238249,http://www.ncbi.nlm.nih.gov/pubmed/24157261

What are congenital disorders of glycosylation?

Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases. More than 100 rare human genetic disorders that result from deficiencies in the different glycosylation pathways are known today. The patients have hundreds of misglycosylated products, which afflict a myriad of processes, including cell signaling, cell-cell interaction, and cell migration.

http://www.ncbi.nlm.nih.gov/pubmed/26531826

Which are the additions of the JASPAR 2016 open-access database of transcription factor binding profiles?

Compared to the JASPAR CORE collection, JASPAR 2016 has been expanded with 494 new TF binding profiles (315 in vertebrates, 11 in nematodes, 3 in insects, 1 in fungi and 164 in plants) and 59 profiles (58 in vertebrates and 1 in fungi) have been updated. The introduced profiles represent an 83% expansion and 10% update when compared to the previous release. The structural annotation of the TF DNA binding domains (DBDs) has been updated following a published hierarchical structural classification. In addition, 130 transcription factor flexible models trained on ChIP-seq data for vertebrates, which capture dinucleotide dependencies within TF binding sites were introduced . The new JASPAR release is accompanied by a new web tool to infer JASPAR TF binding profiles recognized by a given TF protein sequence. Moreover, users are provided with a Ruby module complementing the JASPAR API to ease programmatic access and use of the JASPAR collection of profiles. JASPAR2016 R/Bioconductor data package is also provided with the data of this release.

http://www.ncbi.nlm.nih.gov/pubmed/24318983,http://www.ncbi.nlm.nih.gov/pubmed/25598000,http://www.ncbi.nlm.nih.gov/pubmed/25118650,http://www.ncbi.nlm.nih.gov/pubmed/26415690,http://www.ncbi.nlm.nih.gov/pubmed/21068380,http://www.ncbi.nlm.nih.gov/pubmed/25941633,http://www.ncbi.nlm.nih.gov/pubmed/24714493,http://www.ncbi.nlm.nih.gov/pubmed/24858921,http://www.ncbi.nlm.nih.gov/pubmed/25688091,http://www.ncbi.nlm.nih.gov/pubmed/19700766,http://www.ncbi.nlm.nih.gov/pubmed/25919711,http://www.ncbi.nlm.nih.gov/pubmed/16794186,http://www.ncbi.nlm.nih.gov/pubmed/25247053,http://www.ncbi.nlm.nih.gov/pubmed/17082194

What is the function of the protein tafazzin?

Tafazzin is a phospholipid transacylase that transfers acyl chains with unsaturated fatty acids from phospholipids to monolysocardiolipin to generate cardiolipin with unsaturated fatty acids on mitochondrial membrane.

http://www.ncbi.nlm.nih.gov/pubmed/25996956,http://www.ncbi.nlm.nih.gov/pubmed/24438295,http://www.ncbi.nlm.nih.gov/pubmed/25689825,http://www.ncbi.nlm.nih.gov/pubmed/26249492,http://www.ncbi.nlm.nih.gov/pubmed/27058599,http://www.ncbi.nlm.nih.gov/pubmed/24884699

What are assassin bugs?

The family Reduviidae (Hemiptera: Heteroptera), or assassin bugs, is among the most diverse families of the true bugs, with more than 6,000 species.

http://www.ncbi.nlm.nih.gov/pubmed/22561113,http://www.ncbi.nlm.nih.gov/pubmed/21876149

Are the genes for marneral biosynthesis scattered in the genome of A. thaliana?

These clusters are unlikely to have arisen by horizontal gene transfer, and the mechanisms behind their formation are poorly understood. Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation.Here we characterize a second operon-like triterpene cluster (the marneral cluster) from A. thaliana, compare the features of these two clusters, and investigate the evolutionary events that have led to cluster formation. Genes for marneral synthesis are organized in an operon-like gene cluster in thale cress (A. thaliana).

http://www.ncbi.nlm.nih.gov/pubmed/27334730,http://www.ncbi.nlm.nih.gov/pubmed/27690741,http://www.ncbi.nlm.nih.gov/pubmed/26428945,http://www.ncbi.nlm.nih.gov/pubmed/25006719,http://www.ncbi.nlm.nih.gov/pubmed/26836729,http://www.ncbi.nlm.nih.gov/pubmed/27497276,http://www.ncbi.nlm.nih.gov/pubmed/26598956,http://www.ncbi.nlm.nih.gov/pubmed/27906698

Is Dupilumab used for treatment of atopic dermatitis?

Yes, patients treated with dupilumab had marked and rapid improvement in all the evaluated measures of atopic dermatitis disease activity.

http://www.ncbi.nlm.nih.gov/pubmed/25662217,http://www.ncbi.nlm.nih.gov/pubmed/17329373,http://www.ncbi.nlm.nih.gov/pubmed/19114062,http://www.ncbi.nlm.nih.gov/pubmed/10562569,http://www.ncbi.nlm.nih.gov/pubmed/25104019,http://www.ncbi.nlm.nih.gov/pubmed/20215442

Where is base J found in the genome of Leishmania tarentolae?

Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei.Base J (-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei. J is enriched at sites involved in RNA polymerase (RNAP) II initiation and termination. Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. Base J is found predominantly in repetitive DNA and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in Trypanosoma brucei.Base J (β-D-glucosyl-hydroxymethyluracil) replaces 1% of T in the Leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops.j (β-d-glucosyl-hydroxymethyluracil) replaces 1% of t in the leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops. . j is found predominantly in repetitive dna and correlates with epigenetic silencing of telomeric variant surface glycoprotein genes in trypanosoma brucei. . base j (β-d-glucosyl-hydroxymethyluracil) replaces 1% of t in the leishmania genome and is only found in telomeric repeats (99%) and in regions where transcription starts and stops.

http://www.ncbi.nlm.nih.gov/pubmed/27924029

Which tool is available for predicting regulatory interactions from ChIP-seq data?

CisMapper predicts the regulatory targets of a TF using the correlation between a histone mark at the TF's bound sites and the expression of each gene across a panel of tissues. CisMapper is more accurate at predicting the target genes of a TF than the distance-based approaches currently used, and is particularly advantageous for predicting the long-range regulatory interactions typical of tissue-specific gene expression. CisMapper also predicts which TF binding sites regulate a given gene more accurately than using genomic distance. Unlike distance-based methods, CisMapper can predict which transcription start site of a gene is regulated by a particular binding site of the TF.

http://www.ncbi.nlm.nih.gov/pubmed/7978355,http://www.ncbi.nlm.nih.gov/pubmed/11457596,http://www.ncbi.nlm.nih.gov/pubmed/8177517,http://www.ncbi.nlm.nih.gov/pubmed/9923978,http://www.ncbi.nlm.nih.gov/pubmed/14614902,http://www.ncbi.nlm.nih.gov/pubmed/8059339,http://www.ncbi.nlm.nih.gov/pubmed/19409228,http://www.ncbi.nlm.nih.gov/pubmed/10891606,http://www.ncbi.nlm.nih.gov/pubmed/9193142,http://www.ncbi.nlm.nih.gov/pubmed/11396855,http://www.ncbi.nlm.nih.gov/pubmed/11044898,http://www.ncbi.nlm.nih.gov/pubmed/12655510,http://www.ncbi.nlm.nih.gov/pubmed/17223277,http://www.ncbi.nlm.nih.gov/pubmed/16289944,http://www.ncbi.nlm.nih.gov/pubmed/8300904,http://www.ncbi.nlm.nih.gov/pubmed/16344141,http://www.ncbi.nlm.nih.gov/pubmed/8821458,http://www.ncbi.nlm.nih.gov/pubmed/17409247,http://www.ncbi.nlm.nih.gov/pubmed/7673463,http://www.ncbi.nlm.nih.gov/pubmed/9023728,http://www.ncbi.nlm.nih.gov/pubmed/15940501,http://www.ncbi.nlm.nih.gov/pubmed/12814190,http://www.ncbi.nlm.nih.gov/pubmed/20937306,http://www.ncbi.nlm.nih.gov/pubmed/7472327,http://www.ncbi.nlm.nih.gov/pubmed/21190007

Where are the unipolar brush cells localized?

Unipolar brush cells (UBCs) are glutamatergic interneurons localized in granule cell regions of the cochlear nucleus and the vestibulocerebellum of cerebellum.

http://www.ncbi.nlm.nih.gov/pubmed/26727948,http://www.ncbi.nlm.nih.gov/pubmed/27048880,http://www.ncbi.nlm.nih.gov/pubmed/22661320,http://www.ncbi.nlm.nih.gov/pubmed/25182241,http://www.ncbi.nlm.nih.gov/pubmed/27251074,http://www.ncbi.nlm.nih.gov/pubmed/24297113,http://www.ncbi.nlm.nih.gov/pubmed/25773741

Which driver mutations have been identified for Diffuse Intrinsic Pontine Glioma (DIPG)?

We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGsfound conservation of heterozygous k27m mutations in h3f3a (n = 4) or hist1h3b (n = 3) across all primary , contiguous , and metastatic tumor sites in all dipgs . h3k27m ubiquitously-associated mutations involve alterations in tp53 cell-cycle (tp53/ppm1d) or specific growth factor pathways (acvr1/pik3r1) . reconstruction indicates histone 3 (h3) k27m--including h3.2k27m--mutations potentially arise first and are invariably associated with specific , high-fidelity obligate partners throughout the tumour and its spread , from diagnosis to end-stage disease , suggesting mutual need for tumorigenesis. . aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. . We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1).We found conservation of heterozygous K27M mutations in H3F3A (n=4) or HIST1H3B (n=3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. ACVR1 (n=2), PIK3CA (n=2), FGFR1 (n=2), and MET (n=1) were also intra-tumorally conserved. TP53 aberrations (n=3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). Recurrent mutations within the histone H3 genes H3F3A and HIST1H3B that convert K27 to methionine (H3K27M) and disrupt the global H3K27 methylation landscape and PRC2-dependent silencing, have recently been identified in pediatric high-grade gliomas including Diffuse Intrinsic Pontine Glioma (DIPG) and Glioblastoma multiforme (GBM; Type IV glioma). The spatial and temporal homogeneity of main driver mutations in DIPG implies they will be captured by limited biopsies and emphasizes the need to develop therapies specifically targeting obligate oncohistone partnerships. TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.Spatial conservation of prognostically-relevant and therapeutically-targetable somatic mutations in DIPG and mHGG contrasts the significant heterogeneity of driver mutations seen in adult HGG and supports uniform implementation of diagnostic biopsy in DIPG and mHGG to classify molecular risk groups and guide therapeutic strategy. Recently, a subset of these same mutations of ACVR1 have been identified in diffuse intrinsic pontine glioma (DIPG) tumors. Sequencing analysis showed c.83A>T mutations in the H3F3A or HIST1H3B gene in 77 % of our DIPG cohort. Protein profiling identified 2,305 unique proteins indicating distinct DIPG protein expression patterns compared to other pediatric brain tumors. Two distinct subgroups of DIPG were identified.We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. Conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) was observed across all primary, contiguous, and metastatic tumor sites in all DIPGs. ACVR1 (n = 2), PIK3CA (n = 2), FGFR1 (n = 2), and MET (n = 1) were also intra-tumorally conserved. TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved.We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs TP53 aberrations (n = 3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1).We found conservation of heterozygous K27M mutations in H3F3A (n=4) or HIST1H3B (n=3) across all primary, contiguous, and metastatic tumor sites in all DIPGs. Evolutionary reconstruction indicates histone 3 (H3) K27M--including H3.2K27M--mutations potentially arise first and are invariably associated with specific, high-fidelity obligate partners throughout the tumour and its spread, from diagnosis to end-stage disease, suggesting mutual need for tumorigenesis. These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1). TP53 aberrations (n=3 patients) varied by type and location between primary and metastatic tumors sites but were intra-tumorally conserved. ACVR1 (n=2), PIK3CA (n=2), FGFR1 (n=2), and MET (n=1) were also intra-tumorally conserved. We found conservation of heterozygous K27M mutations in H3F3A (n = 4) or HIST1H3B (n = 3) across all primary, contiguous, and metastatic tumor sites in all DIPGs These H3K27M ubiquitously-associated mutations involve alterations in TP53 cell-cycle (TP53/PPM1D) or specific growth factor pathways (ACVR1/PIK3R1).

http://www.ncbi.nlm.nih.gov/pubmed/26190104,http://www.ncbi.nlm.nih.gov/pubmed/17521633,http://www.ncbi.nlm.nih.gov/pubmed/24374312,http://www.ncbi.nlm.nih.gov/pubmed/20075857

Does Jarid2 play a role in early embryo development?

Yes. Jarid2 coordinates Nanog expression and PCP/Wnt signaling required for efficient ESC differentiation and early embryo development.

http://www.ncbi.nlm.nih.gov/pubmed/3903677,http://www.ncbi.nlm.nih.gov/pubmed/23420314,http://www.ncbi.nlm.nih.gov/pubmed/8088142,http://www.ncbi.nlm.nih.gov/pubmed/17254029,http://www.ncbi.nlm.nih.gov/pubmed/708596,http://www.ncbi.nlm.nih.gov/pubmed/10321515,http://www.ncbi.nlm.nih.gov/pubmed/8445063,http://www.ncbi.nlm.nih.gov/pubmed/19292787,http://www.ncbi.nlm.nih.gov/pubmed/18712324,http://www.ncbi.nlm.nih.gov/pubmed/15611423,http://www.ncbi.nlm.nih.gov/pubmed/7662576,http://www.ncbi.nlm.nih.gov/pubmed/17673386,http://www.ncbi.nlm.nih.gov/pubmed/9640882,http://www.ncbi.nlm.nih.gov/pubmed/10721861,http://www.ncbi.nlm.nih.gov/pubmed/14699368,http://www.ncbi.nlm.nih.gov/pubmed/22738245,http://www.ncbi.nlm.nih.gov/pubmed/11499537,http://www.ncbi.nlm.nih.gov/pubmed/9146535

Is PUVA therapy indicated for eczema treatment?

Yes, PUVA (psoralen plus UVA) therapy is effective for eczema treatment and has relatively few side effects.

http://www.ncbi.nlm.nih.gov/pubmed/26493208

What is DECKO?

DECKO (Double Excision CRISPR Knockout) is a dual CRISPR tool, which is cloned using a single starting oligonucleotide, thereby affording simplicity and scalability to CRISPR knockout studies of non-coding genomic elements, including long non-coding RNAs.

http://www.ncbi.nlm.nih.gov/pubmed/22247256,http://www.ncbi.nlm.nih.gov/pubmed/26546829,http://www.ncbi.nlm.nih.gov/pubmed/24751931,http://www.ncbi.nlm.nih.gov/pubmed/22062970

List genes associated with hypolipidemia.

PCSK9 APOB ANGPTL3 ANGPTL4 MTP

http://www.ncbi.nlm.nih.gov/pubmed/17938163,http://www.ncbi.nlm.nih.gov/pubmed/21415861,http://www.ncbi.nlm.nih.gov/pubmed/21355049,http://www.ncbi.nlm.nih.gov/pubmed/19859837

What is the enzymatic activity of PARL?

the mitochondrial protease presenilin-associated rhomboid-like (PARL). Rhomboids are a recently discovered family of widely distributed intramembrane serine proteases.

http://www.ncbi.nlm.nih.gov/pubmed/23834768,http://www.ncbi.nlm.nih.gov/pubmed/26910308,http://www.ncbi.nlm.nih.gov/pubmed/22796012,http://www.ncbi.nlm.nih.gov/pubmed/21196229,http://www.ncbi.nlm.nih.gov/pubmed/23818608,http://www.ncbi.nlm.nih.gov/pubmed/6148836,http://www.ncbi.nlm.nih.gov/pubmed/3083882,http://www.ncbi.nlm.nih.gov/pubmed/26496384,http://www.ncbi.nlm.nih.gov/pubmed/26322018,http://www.ncbi.nlm.nih.gov/pubmed/15058310,http://www.ncbi.nlm.nih.gov/pubmed/6819159,http://www.ncbi.nlm.nih.gov/pubmed/21982742,http://www.ncbi.nlm.nih.gov/pubmed/26912151,http://www.ncbi.nlm.nih.gov/pubmed/27528872,http://www.ncbi.nlm.nih.gov/pubmed/8042786,http://www.ncbi.nlm.nih.gov/pubmed/25642708,http://www.ncbi.nlm.nih.gov/pubmed/962510,http://www.ncbi.nlm.nih.gov/pubmed/27528697,http://www.ncbi.nlm.nih.gov/pubmed/27552974,http://www.ncbi.nlm.nih.gov/pubmed/1550210,http://www.ncbi.nlm.nih.gov/pubmed/25068090,http://www.ncbi.nlm.nih.gov/pubmed/2039657,http://www.ncbi.nlm.nih.gov/pubmed/21123942,http://www.ncbi.nlm.nih.gov/pubmed/9277366,http://www.ncbi.nlm.nih.gov/pubmed/24129212,http://www.ncbi.nlm.nih.gov/pubmed/5262992,http://www.ncbi.nlm.nih.gov/pubmed/24046370,http://www.ncbi.nlm.nih.gov/pubmed/24567786,http://www.ncbi.nlm.nih.gov/pubmed/6315457,http://www.ncbi.nlm.nih.gov/pubmed/541897,http://www.ncbi.nlm.nih.gov/pubmed/25466254,http://www.ncbi.nlm.nih.gov/pubmed/16594742,http://www.ncbi.nlm.nih.gov/pubmed/26749900,http://www.ncbi.nlm.nih.gov/pubmed/22654830,http://www.ncbi.nlm.nih.gov/pubmed/19641492

Do brown fat cells produce heat?

Yes, brown fat cells produce heat.

http://www.ncbi.nlm.nih.gov/pubmed/15634921,http://www.ncbi.nlm.nih.gov/pubmed/16634806,http://www.ncbi.nlm.nih.gov/pubmed/19344285,http://www.ncbi.nlm.nih.gov/pubmed/16814270,http://www.ncbi.nlm.nih.gov/pubmed/19846865,http://www.ncbi.nlm.nih.gov/pubmed/19111573,http://www.ncbi.nlm.nih.gov/pubmed/7534789,http://www.ncbi.nlm.nih.gov/pubmed/24106273,http://www.ncbi.nlm.nih.gov/pubmed/19695868,http://www.ncbi.nlm.nih.gov/pubmed/23161490,http://www.ncbi.nlm.nih.gov/pubmed/19088033,http://www.ncbi.nlm.nih.gov/pubmed/27622022,http://www.ncbi.nlm.nih.gov/pubmed/17445956,http://www.ncbi.nlm.nih.gov/pubmed/25990849,http://www.ncbi.nlm.nih.gov/pubmed/22936035,http://www.ncbi.nlm.nih.gov/pubmed/11122460,http://www.ncbi.nlm.nih.gov/pubmed/21919618,http://www.ncbi.nlm.nih.gov/pubmed/17597331,http://www.ncbi.nlm.nih.gov/pubmed/20493257,http://www.ncbi.nlm.nih.gov/pubmed/20827761,http://www.ncbi.nlm.nih.gov/pubmed/25379726,http://www.ncbi.nlm.nih.gov/pubmed/16685414

What is a mimotope vaccine?

A mimotope vaccine contains peptide mimics of specific antigen epitopes, which alter the antigen presentation and/or T cell activation to increase the expansion of tumor-specific T cells and are able to induce polyclonal antibodies response.

http://www.ncbi.nlm.nih.gov/pubmed/25570942,http://www.ncbi.nlm.nih.gov/pubmed/25076935,http://www.ncbi.nlm.nih.gov/pubmed/25809585,http://www.ncbi.nlm.nih.gov/pubmed/23219828,http://www.ncbi.nlm.nih.gov/pubmed/26559820,http://www.ncbi.nlm.nih.gov/pubmed/26252893,http://www.ncbi.nlm.nih.gov/pubmed/17046477,http://www.ncbi.nlm.nih.gov/pubmed/27730651,http://www.ncbi.nlm.nih.gov/pubmed/23202153,http://www.ncbi.nlm.nih.gov/pubmed/25726862,http://www.ncbi.nlm.nih.gov/pubmed/23209584,http://www.ncbi.nlm.nih.gov/pubmed/22231864,http://www.ncbi.nlm.nih.gov/pubmed/8336953,http://www.ncbi.nlm.nih.gov/pubmed/23091536,http://www.ncbi.nlm.nih.gov/pubmed/3631419,http://www.ncbi.nlm.nih.gov/pubmed/24594496,http://www.ncbi.nlm.nih.gov/pubmed/26346344,http://www.ncbi.nlm.nih.gov/pubmed/25331814

Describe clinical manifestation of the Mal de debarquement syndrome.

Mal de debarquement syndrome (MdDS) is a disorder of chronic self-motion perception that occurs though entrainment to rhythmic background motion, such as from sea voyage, and involves the perception of low-frequency rocking that can last for months or years.

http://www.ncbi.nlm.nih.gov/pubmed/24603493,http://www.ncbi.nlm.nih.gov/pubmed/22624016,http://www.ncbi.nlm.nih.gov/pubmed/26542622,http://www.ncbi.nlm.nih.gov/pubmed/26495852,http://www.ncbi.nlm.nih.gov/pubmed/19538822,http://www.ncbi.nlm.nih.gov/pubmed/27303718,http://www.ncbi.nlm.nih.gov/pubmed/22176696,http://www.ncbi.nlm.nih.gov/pubmed/17582188,http://www.ncbi.nlm.nih.gov/pubmed/25653950,http://www.ncbi.nlm.nih.gov/pubmed/12139670,http://www.ncbi.nlm.nih.gov/pubmed/19156200,http://www.ncbi.nlm.nih.gov/pubmed/26935879,http://www.ncbi.nlm.nih.gov/pubmed/27427979,http://www.ncbi.nlm.nih.gov/pubmed/25803046,http://www.ncbi.nlm.nih.gov/pubmed/26710411,http://www.ncbi.nlm.nih.gov/pubmed/9753000,http://www.ncbi.nlm.nih.gov/pubmed/24145517,http://www.ncbi.nlm.nih.gov/pubmed/15191392,http://www.ncbi.nlm.nih.gov/pubmed/12803798,http://www.ncbi.nlm.nih.gov/pubmed/27694236,http://www.ncbi.nlm.nih.gov/pubmed/17563759,http://www.ncbi.nlm.nih.gov/pubmed/18691413,http://www.ncbi.nlm.nih.gov/pubmed/22473609,http://www.ncbi.nlm.nih.gov/pubmed/24736221,http://www.ncbi.nlm.nih.gov/pubmed/24067292,http://www.ncbi.nlm.nih.gov/pubmed/27219859,http://www.ncbi.nlm.nih.gov/pubmed/22442327,http://www.ncbi.nlm.nih.gov/pubmed/11495298,http://www.ncbi.nlm.nih.gov/pubmed/15380526,http://www.ncbi.nlm.nih.gov/pubmed/14604083,http://www.ncbi.nlm.nih.gov/pubmed/22564963,http://www.ncbi.nlm.nih.gov/pubmed/20142364,http://www.ncbi.nlm.nih.gov/pubmed/25689538,http://www.ncbi.nlm.nih.gov/pubmed/24065633,http://www.ncbi.nlm.nih.gov/pubmed/17676990,http://www.ncbi.nlm.nih.gov/pubmed/24962103,http://www.ncbi.nlm.nih.gov/pubmed/17062053,http://www.ncbi.nlm.nih.gov/pubmed/20169062,http://www.ncbi.nlm.nih.gov/pubmed/19276877,http://www.ncbi.nlm.nih.gov/pubmed/18855560,http://www.ncbi.nlm.nih.gov/pubmed/26311902,http://www.ncbi.nlm.nih.gov/pubmed/26607593,http://www.ncbi.nlm.nih.gov/pubmed/24392083,http://www.ncbi.nlm.nih.gov/pubmed/27472421,http://www.ncbi.nlm.nih.gov/pubmed/26526925,http://www.ncbi.nlm.nih.gov/pubmed/20532233,http://www.ncbi.nlm.nih.gov/pubmed/19679240,http://www.ncbi.nlm.nih.gov/pubmed/25943405,http://www.ncbi.nlm.nih.gov/pubmed/25442759

Is Melioidosis caused by the bacterium Burkholderia pseudomallei?

Burkholderia pseudomallei is the causative agent of melioidosis

http://www.ncbi.nlm.nih.gov/pubmed/27933948,http://www.ncbi.nlm.nih.gov/pubmed/27023706,http://www.ncbi.nlm.nih.gov/pubmed/27678025,http://www.ncbi.nlm.nih.gov/pubmed/27807285,http://www.ncbi.nlm.nih.gov/pubmed/27934506

What is the mechanism of action of verubecestat?

Verubecestat (MK-8931), a diaryl amide-substituted 3-imino-1,2,4-thiadiazinane 1,1-dioxide derivative, is a potent, selective, structurally unique BACE1 inhibitor that reduced plasma, cerebrospinal fluid (CSF), and brain concentrations of Aβ40, Aβ42, and sAPPβ (a direct product of BACE1 enzymatic activity).

http://www.ncbi.nlm.nih.gov/pubmed/23288644,http://www.ncbi.nlm.nih.gov/pubmed/22890969,http://www.ncbi.nlm.nih.gov/pubmed/26989023,http://www.ncbi.nlm.nih.gov/pubmed/23831947,http://www.ncbi.nlm.nih.gov/pubmed/26061753,http://www.ncbi.nlm.nih.gov/pubmed/21889777

How are triple negative gliomas characterized?

of these markers - 1p/19q deletions , mgmt methylation status , and mutations in the idh1 gene - are so potent that a new brain tumor subtype , the "triple negative" glioma (1p/19q intact , mgmt unmethylated , idh1 non-mutated) has entered common parlance . According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis.Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. On the basis of previous studies of tumor biology, we defined five glioma molecular groups with the use of three alterations: mutations in the TERT promoter, mutations in IDH, and codeletion of chromosome arms 1p and 19q (1p/19q codeletion). Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. (Funded by the National Institutes of Health and others. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the "triple negative" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance.According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the "triple negative" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance. According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative (IDH-/p53-/1p19q-), this last subgroup having the worst prognosis.According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the "triple negative" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance. According to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutationsAccording to IDH, TP53, and 1p19q status, four major subtypes of LGG are recorded: IDH+/p53-/1p19q-, IDH+/p53+/1p19q-, IDH+/p53-/1p19q+ and triple negative, this last subgroup having the worst prognosis. Low-grade gliomas were accurately classified into four groups: group 1, IDH+/p53-/1p19q-; group 2, IDH+/p53-/1p19q+; group 3, IDH+/p53+/1p19q-; and group 4, triple negative gliomas. Among 615 grade II or III gliomas, 29% had all three alterations (i.e., were triple-positive), 5% had TERT and IDH mutations, 45% had only IDH mutations, 7% were triple-negative, and 10% had only TERT mutations; 5% had other combinations. Among 472 grade IV gliomas, less than 1% were triple-positive, 2% had TERT and IDH mutations, 7% had only IDH mutations, 17% were triple-negative, and 74% had only TERT mutations Three of these markers - 1p/19q deletions, MGMT methylation status, and mutations in the IDH1 gene - are so potent that a new brain tumor subtype, the "triple negative" glioma (1p/19q intact, MGMT unmethylated, IDH1 non-mutated) has entered common parlance

http://www.ncbi.nlm.nih.gov/pubmed/25797933,http://www.ncbi.nlm.nih.gov/pubmed/25939784,http://www.ncbi.nlm.nih.gov/pubmed/19200529

What is ectopia lentis?

Ectopia Lentis is dislocation of the optic lens in the eye.

http://www.ncbi.nlm.nih.gov/pubmed/24193798,http://www.ncbi.nlm.nih.gov/pubmed/25422710,http://www.ncbi.nlm.nih.gov/pubmed/26463916,http://www.ncbi.nlm.nih.gov/pubmed/24072459,http://www.ncbi.nlm.nih.gov/pubmed/24552576,http://www.ncbi.nlm.nih.gov/pubmed/24671831,http://www.ncbi.nlm.nih.gov/pubmed/23633925,http://www.ncbi.nlm.nih.gov/pubmed/17673715,http://www.ncbi.nlm.nih.gov/pubmed/26268138

Can glyburide reduce cerebral edema?

Yes. Glyburide, a selective inhibitor of sulfonylurea receptor 1-transient receptor potential melastatin 4, is effective in preventing and attenuating cerebral edema.

http://www.ncbi.nlm.nih.gov/pubmed/26482951,http://www.ncbi.nlm.nih.gov/pubmed/26611636,http://www.ncbi.nlm.nih.gov/pubmed/27281216,http://www.ncbi.nlm.nih.gov/pubmed/27932073

What is the function of gasdermin D?

The gasdermin-N domains of the gasdermin proteins can bind membrane lipids, phosphoinositides and cardiolipin to produce membrane-disrupting cytotoxicity.

http://www.ncbi.nlm.nih.gov/pubmed/26358182,http://www.ncbi.nlm.nih.gov/pubmed/22069478

What is TOPAZ1?

TOPAZ1 is a novel germ cell-specific expressed gene conserved during evolution across vertebrates. Its PAZ-domain protein is abundantly expressed in the gonads during germ cell meiosis. The expression pattern of TOPAZ1, and its high degree of conservation, suggests that it may play an important role in germ cell development. Further characterization of TOPAZ1 may elucidate the mechanisms involved in gametogenesis, and particularly in the RNA silencing process in the germ line.TOPAZ1 (Testis and Ovary-specific PAZ domain gene 1) is a germ cell specific factor that is essential for male meiotic progression. Topaz1 is supposed to have a role during gametogenesis and may be involved in the piRNA pathway and contribute to silencing of transposable elements and maintenance of genome integrity. It is highly conserved in vertebrates.

http://www.ncbi.nlm.nih.gov/pubmed/24865682,http://www.ncbi.nlm.nih.gov/pubmed/24372186,http://www.ncbi.nlm.nih.gov/pubmed/11233775,http://www.ncbi.nlm.nih.gov/pubmed/20684792,http://www.ncbi.nlm.nih.gov/pubmed/21336800,http://www.ncbi.nlm.nih.gov/pubmed/16450734,http://www.ncbi.nlm.nih.gov/pubmed/750548,http://www.ncbi.nlm.nih.gov/pubmed/25079187,http://www.ncbi.nlm.nih.gov/pubmed/25116429,http://www.ncbi.nlm.nih.gov/pubmed/25949934,http://www.ncbi.nlm.nih.gov/pubmed/23188,http://www.ncbi.nlm.nih.gov/pubmed/21302115,http://www.ncbi.nlm.nih.gov/pubmed/23961874,http://www.ncbi.nlm.nih.gov/pubmed/23640458,http://www.ncbi.nlm.nih.gov/pubmed/10745013,http://www.ncbi.nlm.nih.gov/pubmed/24891465,http://www.ncbi.nlm.nih.gov/pubmed/18094574,http://www.ncbi.nlm.nih.gov/pubmed/21784438,http://www.ncbi.nlm.nih.gov/pubmed/12737943,http://www.ncbi.nlm.nih.gov/pubmed/26275698,http://www.ncbi.nlm.nih.gov/pubmed/22829586,http://www.ncbi.nlm.nih.gov/pubmed/24636884,http://www.ncbi.nlm.nih.gov/pubmed/19769422,http://www.ncbi.nlm.nih.gov/pubmed/18450407,http://www.ncbi.nlm.nih.gov/pubmed/25807896,http://www.ncbi.nlm.nih.gov/pubmed/26840990,http://www.ncbi.nlm.nih.gov/pubmed/11793482,http://www.ncbi.nlm.nih.gov/pubmed/9088998,http://www.ncbi.nlm.nih.gov/pubmed/10698963,http://www.ncbi.nlm.nih.gov/pubmed/11271380,http://www.ncbi.nlm.nih.gov/pubmed/20194698,http://www.ncbi.nlm.nih.gov/pubmed/23874768,http://www.ncbi.nlm.nih.gov/pubmed/11261779,http://www.ncbi.nlm.nih.gov/pubmed/10980404,http://www.ncbi.nlm.nih.gov/pubmed/19086137,http://www.ncbi.nlm.nih.gov/pubmed/24711919,http://www.ncbi.nlm.nih.gov/pubmed/20065266,http://www.ncbi.nlm.nih.gov/pubmed/22139979,http://www.ncbi.nlm.nih.gov/pubmed/11842483

Which are the symptoms of glucose-6-phosphate dehydrogenase (G6PD) deficiency?

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common symptoms of this condition are: 1) acute hemolysis, 2) chronic hemolysis, 3) neonatal hyperbilirubinemia.

http://www.ncbi.nlm.nih.gov/pubmed/11592477,http://www.ncbi.nlm.nih.gov/pubmed/27034376,http://www.ncbi.nlm.nih.gov/pubmed/22398555,http://www.ncbi.nlm.nih.gov/pubmed/27435933

Has the gorilla genome been determined?

Yes, the gorilla genome has been sequenced.

http://www.ncbi.nlm.nih.gov/pubmed/27460442,http://www.ncbi.nlm.nih.gov/pubmed/27554612,http://www.ncbi.nlm.nih.gov/pubmed/27754804,http://www.ncbi.nlm.nih.gov/pubmed/24987354,http://www.ncbi.nlm.nih.gov/pubmed/23489023,http://www.ncbi.nlm.nih.gov/pubmed/26751190,http://www.ncbi.nlm.nih.gov/pubmed/24756795,http://www.ncbi.nlm.nih.gov/pubmed/26735176,http://www.ncbi.nlm.nih.gov/pubmed/25353071,http://www.ncbi.nlm.nih.gov/pubmed/26284586,http://www.ncbi.nlm.nih.gov/pubmed/22649416,http://www.ncbi.nlm.nih.gov/pubmed/26176686,http://www.ncbi.nlm.nih.gov/pubmed/26636651,http://www.ncbi.nlm.nih.gov/pubmed/27127178,http://www.ncbi.nlm.nih.gov/pubmed/24262022,http://www.ncbi.nlm.nih.gov/pubmed/27432558,http://www.ncbi.nlm.nih.gov/pubmed/25467940

Is vemurafenib used for thyroid cancer?

Yes. Vemurafenib, a selective BRAF inhibitor, appears to have promising clinical activity in patients with papillary thyroid cancer (PTC) harboring the BRAF(V600E) mutation.

http://www.ncbi.nlm.nih.gov/pubmed/26303227,http://www.ncbi.nlm.nih.gov/pubmed/22228244,http://www.ncbi.nlm.nih.gov/pubmed/24521566,http://www.ncbi.nlm.nih.gov/pubmed/27632209,http://www.ncbi.nlm.nih.gov/pubmed/22892647,http://www.ncbi.nlm.nih.gov/pubmed/22300873,http://www.ncbi.nlm.nih.gov/pubmed/22366791,http://www.ncbi.nlm.nih.gov/pubmed/24442578,http://www.ncbi.nlm.nih.gov/pubmed/23934648,http://www.ncbi.nlm.nih.gov/pubmed/27619540,http://www.ncbi.nlm.nih.gov/pubmed/22673113,http://www.ncbi.nlm.nih.gov/pubmed/23053135,http://www.ncbi.nlm.nih.gov/pubmed/24064469

Are mutations in the C9orf72 gene associated with macular degeneration?

Amyotrophic lateral sclerosis (ALS) is characterized by motor neurone loss resulting in muscle weakness, spasticity and ultimately death. 5-10% are caused by inherited mutations, most commonly C9ORF72, SOD1, TARDBP and FUS.

http://www.ncbi.nlm.nih.gov/pubmed/25689317,http://www.ncbi.nlm.nih.gov/pubmed/22897955

What is the Genome 10K Project?

The Genome 10K Project was established in 2009 by a consortium of biologists and genome scientists determined to facilitate the sequencing and analysis of the complete genomes of 10,000 vertebrate species.

http://www.ncbi.nlm.nih.gov/pubmed/12202480,http://www.ncbi.nlm.nih.gov/pubmed/24453067,http://www.ncbi.nlm.nih.gov/pubmed/20304827

Which gene controls the expression of GATA-1 isoforms?

In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. This isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA transcript.A transcriptional network has been reported, in which PU.1 positively regulates GATA-1 expression in mast cell development.In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation.Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development.Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s. In this study, we report a transcriptional network in which PU.1 positively regulates GATA-1 expression in mast cell development. This isoform contains an alternatively spliced first exon (IB) that is distinct from the first exon (IE) incorporated in the major erythroid mRNA transcript. Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation. Reintroduction of PU.1 restores variant IB isoform and upregulates total GATA-1 protein expression, which is concurrent with mast cell differentiation. Mutations in exon 2 interfere with the synthesis of the full-length isoform of GATA-1 and lead to the production of a shortened isoform, GATA-1s.

http://www.ncbi.nlm.nih.gov/pubmed/27009155,http://www.ncbi.nlm.nih.gov/pubmed/26384656,http://www.ncbi.nlm.nih.gov/pubmed/25881900,http://www.ncbi.nlm.nih.gov/pubmed/25623529

What is MIRA-seq?

MIRA-seq is a reliable, genome-scale DNA methylation analysis platform for scoring DNA methylation differences at CpG-rich genomic regions. The method is not limited by primer or probe design and is cost effective.

http://www.ncbi.nlm.nih.gov/pubmed/24945319,http://www.ncbi.nlm.nih.gov/pubmed/19188448,http://www.ncbi.nlm.nih.gov/pubmed/17803944,http://www.ncbi.nlm.nih.gov/pubmed/16319194,http://www.ncbi.nlm.nih.gov/pubmed/26119342,http://www.ncbi.nlm.nih.gov/pubmed/12704082

How does Ssu72 mediate gene looping?

Investigation of chromosome folding in mutants confirms roles for RSC, "gene looping" factor Ssu72, Mediator, H3K56 acetyltransferase Rtt109, and the N-terminal tail of H4 in folding of the yeast genome. The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP. We propose a model for RNAP II transcription in which promoter and terminator regions are juxtaposed, and that the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. The first 300 amino acids of Pta1 are sufficient for interactions with Ssu72, which is needed for pre-mRNA cleavage. In RNAP II transcription, promoter and terminator regions are juxtaposed and the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. These interactions are transcription-dependent, require the Ssu72 and Pta1 components of the CPF 3'-end processing complex, and require the phosphatase activity of Ssu72.tfiib crosslinks to both the promoter and terminator regions of the pma1 and blm10 genes, and its association with the terminator, but not the promoter, is adversely affected by e62k and by depletion of the ssu72 component of the cpf 3' end processing complex, and is independent of tbp.Investigation of chromosome folding in mutants confirms roles for RSC, "gene looping" factor Ssu72, Mediator, H3K56 acetyltransferase Rtt109, and the N-terminal tail of H4 in folding of the yeast genome. TFIIB crosslinks to both the promoter and terminator regions of the PMA1 and BLM10 genes, and its association with the terminator, but not the promoter, is adversely affected by E62K and by depletion of the Ssu72 component of the CPF 3' end processing complex, and is independent of TBP. We propose a model for RNAP II transcription in which promoter and terminator regions are juxtaposed, and that the resulting gene loops facilitate transcription reinitiation by the same molecule of RNAP II in a manner dependent upon Ssu72-mediated CTD dephosphorylation. The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing These interactions are transcription-dependent, require the Ssu72 and Pta1 components of the CPF 3'-end processing complex, and require the phosphatase activity of Ssu72. Furthermore, different regions of Pta1 interact with the CPF subunits Ssu72, Pti1, and Ysh1, supporting the idea that Pta1 acts as a scaffold to organize CPF.The essential N terminus of the Pta1 scaffold protein is required for snoRNA transcription termination and Ssu72 function but is dispensable for pre-mRNA 3'-end processing

http://www.ncbi.nlm.nih.gov/pubmed/22948725,http://www.ncbi.nlm.nih.gov/pubmed/20569258,http://www.ncbi.nlm.nih.gov/pubmed/24077912

Is the number of described human nuclear mutations less than 50000?

No, The number of known mutations in human nuclear genes, underlying or associated with human inherited disease, has now exceeded 100,000 in more than 3700 different genes (Human Gene Mutation Database).

http://www.ncbi.nlm.nih.gov/pubmed/21224349,http://www.ncbi.nlm.nih.gov/pubmed/22949372,http://www.ncbi.nlm.nih.gov/pubmed/25699094,http://www.ncbi.nlm.nih.gov/pubmed/21838684,http://www.ncbi.nlm.nih.gov/pubmed/25238402,http://www.ncbi.nlm.nih.gov/pubmed/18186614,http://www.ncbi.nlm.nih.gov/pubmed/23785412,http://www.ncbi.nlm.nih.gov/pubmed/11071782,http://www.ncbi.nlm.nih.gov/pubmed/8755498,http://www.ncbi.nlm.nih.gov/pubmed/17189388,http://www.ncbi.nlm.nih.gov/pubmed/25801767,http://www.ncbi.nlm.nih.gov/pubmed/19377984,http://www.ncbi.nlm.nih.gov/pubmed/15037656,http://www.ncbi.nlm.nih.gov/pubmed/19295259,http://www.ncbi.nlm.nih.gov/pubmed/17574575,http://www.ncbi.nlm.nih.gov/pubmed/16581027,http://www.ncbi.nlm.nih.gov/pubmed/19895821,http://www.ncbi.nlm.nih.gov/pubmed/18195017,http://www.ncbi.nlm.nih.gov/pubmed/16751801,http://www.ncbi.nlm.nih.gov/pubmed/12842895,http://www.ncbi.nlm.nih.gov/pubmed/11641783,http://www.ncbi.nlm.nih.gov/pubmed/18314488,http://www.ncbi.nlm.nih.gov/pubmed/23579184,http://www.ncbi.nlm.nih.gov/pubmed/18243349,http://www.ncbi.nlm.nih.gov/pubmed/25966787,http://www.ncbi.nlm.nih.gov/pubmed/25230811,http://www.ncbi.nlm.nih.gov/pubmed/22503683,http://www.ncbi.nlm.nih.gov/pubmed/20653933,http://www.ncbi.nlm.nih.gov/pubmed/18265211,http://www.ncbi.nlm.nih.gov/pubmed/24478452,http://www.ncbi.nlm.nih.gov/pubmed/12530529,http://www.ncbi.nlm.nih.gov/pubmed/19377987,http://www.ncbi.nlm.nih.gov/pubmed/25963836,http://www.ncbi.nlm.nih.gov/pubmed/19320493,http://www.ncbi.nlm.nih.gov/pubmed/10439043,http://www.ncbi.nlm.nih.gov/pubmed/15231297,http://www.ncbi.nlm.nih.gov/pubmed/15952909,http://www.ncbi.nlm.nih.gov/pubmed/19377988,http://www.ncbi.nlm.nih.gov/pubmed/16731923,http://www.ncbi.nlm.nih.gov/pubmed/18336207,http://www.ncbi.nlm.nih.gov/pubmed/9222505

What is the role of peptide aptamers?

Peptide aptamers are artificial short peptides which are able to specifically bind to defined functional domains, track, and inhibit a given target molecule with high affinity, even molecules with poor immunogenicity or high toxicity. They represent a remarkable alternative to antibodies in many different applications.

http://www.ncbi.nlm.nih.gov/pubmed/27274374,http://www.ncbi.nlm.nih.gov/pubmed/15458689,http://www.ncbi.nlm.nih.gov/pubmed/11858389,http://www.ncbi.nlm.nih.gov/pubmed/19218740,http://www.ncbi.nlm.nih.gov/pubmed/24231893,http://www.ncbi.nlm.nih.gov/pubmed/20347493,http://www.ncbi.nlm.nih.gov/pubmed/23258208,http://www.ncbi.nlm.nih.gov/pubmed/20860157,http://www.ncbi.nlm.nih.gov/pubmed/23633270,http://www.ncbi.nlm.nih.gov/pubmed/22949776,http://www.ncbi.nlm.nih.gov/pubmed/23196658,http://www.ncbi.nlm.nih.gov/pubmed/17479651,http://www.ncbi.nlm.nih.gov/pubmed/9005281,http://www.ncbi.nlm.nih.gov/pubmed/21987083,http://www.ncbi.nlm.nih.gov/pubmed/24132556,http://www.ncbi.nlm.nih.gov/pubmed/10824732,http://www.ncbi.nlm.nih.gov/pubmed/23843353,http://www.ncbi.nlm.nih.gov/pubmed/25290726,http://www.ncbi.nlm.nih.gov/pubmed/23117287,http://www.ncbi.nlm.nih.gov/pubmed/24826276,http://www.ncbi.nlm.nih.gov/pubmed/22009732,http://www.ncbi.nlm.nih.gov/pubmed/23914034,http://www.ncbi.nlm.nih.gov/pubmed/22235038,http://www.ncbi.nlm.nih.gov/pubmed/22773171

Which are the clinical symptoms of left ventricular noncompaction?

The clinical symptoms of left ventricular noncompaction are: 1) heart failure, 2) systemic thromboembolic events, 3) ventricular arrhythmias and 4) sudden cardiac death.

http://www.ncbi.nlm.nih.gov/pubmed/21831280,http://www.ncbi.nlm.nih.gov/pubmed/25834958,http://www.ncbi.nlm.nih.gov/pubmed/26295284,http://www.ncbi.nlm.nih.gov/pubmed/23022643,http://www.ncbi.nlm.nih.gov/pubmed/11332457

What is the Glasgow Coma score?

Glasgow coma sore is used to determine injury severity on admission to a hospital emergency department or by the duration of unconsciousness.

http://www.ncbi.nlm.nih.gov/pubmed/26449414,http://www.ncbi.nlm.nih.gov/pubmed/27082776,http://www.ncbi.nlm.nih.gov/pubmed/26872887,http://www.ncbi.nlm.nih.gov/pubmed/27575436,http://www.ncbi.nlm.nih.gov/pubmed/25516695,http://www.ncbi.nlm.nih.gov/pubmed/25816811,http://www.ncbi.nlm.nih.gov/pubmed/27913536,http://www.ncbi.nlm.nih.gov/pubmed/26559317,http://www.ncbi.nlm.nih.gov/pubmed/25494843,http://www.ncbi.nlm.nih.gov/pubmed/27789605,http://www.ncbi.nlm.nih.gov/pubmed/27659071,http://www.ncbi.nlm.nih.gov/pubmed/25431993,http://www.ncbi.nlm.nih.gov/pubmed/26069913,http://www.ncbi.nlm.nih.gov/pubmed/27697443,http://www.ncbi.nlm.nih.gov/pubmed/27399455,http://www.ncbi.nlm.nih.gov/pubmed/26627486,http://www.ncbi.nlm.nih.gov/pubmed/27147456,http://www.ncbi.nlm.nih.gov/pubmed/27895055,http://www.ncbi.nlm.nih.gov/pubmed/26686866,http://www.ncbi.nlm.nih.gov/pubmed/26519420,http://www.ncbi.nlm.nih.gov/pubmed/25387210

Andexanet Alfa is an antidote of which clotting factor inhibitors?

Andexanet alfa is a specific reversal agent for Factor Xa inhibitors.Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is a specific reversal agent for Factor Xa inhibitors. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is a specific reversal agent for Factor Xa inhibitors. In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. andexanet alfa is a factor xa (fxa) decoy that binds to direct and indirect inhibitors in phase iii trials in healthy volunteers , andexanet alfa reduced anti-fxa activity by more than 90% , reduced the concentration of unbound direct fxa inhibitor , and inhibited thrombin generation . andexanet is an antidote targeted to reverse the oral direct factor xa inhibitors as well as the indirect inhibitor enoxaparin. . Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. In Phase III trials in healthy volunteers, andexanet alfa reduced anti-FXa activity by more than 90%, reduced the concentration of unbound direct FXa inhibitor, and inhibited thrombin generation. Andexanet alfa for the reversal of Factor Xa inhibitor related anticoagulation. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. In ex vivo, animal, and volunteer human studies, andexanet alfa (AnXa) was able to dose-dependently reverse Factor Xa inhibition and restore thrombin generation for the duration of drug administration. Andexanet alfa (r-Antidote, PRT064445; Portola Pharmaceuticals) is a truncated form of enzymatically inactive factor Xa, which binds and reverses the anticoagulant action of the factor Xa inhibitors (e.g.: rivaroxaban, apixaban and edoxaban). Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. Andexanet alfa (AnXa), a recombinant modified FXa, is an investigational specific antidote for FXa inhibitors. Antidotes that experimentally reverse the anti-coagulant effect of dabigatran (Idarucizumab; BI 655075; Boehringer Ingelheim); of rivaroxaban, apixaban, or edoxaban (Andexanet alfa, r-Antidote, PRT064445; Portola Pharmaceuticals) or of all DOACs (Aripazine, PER-977, ciraparantag; Perosphere Inc.) are discussed. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly. Andexanet alfa (PRT064445), a specific reversal agent against factor Xa inhibitors, showed a complete reversal of anticoagulant activity of apixaban and rivaroxaban within minutes after administration without adverse effects in two recently completed parallel phase III trials ANNEXA-A and ANNEXA-R respectively.Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Idarucizumab and andexanet alfa are NOAC-specific reversal agents designed to reverse dabigatran and factor Xa inhibitors accordingly.Andexanet alfa is an antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor enoxaparin. Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin.Andexanet alfa is a class-specific antidote targeted to reverse the oral direct factor Xa inhibitors as well as the indirect inhibitor, enoxaparin. Andexanet alfa is a factor Xa (FXa) decoy that binds to direct and indirect FXa inhibitors.

http://www.ncbi.nlm.nih.gov/pubmed/18467377,http://www.ncbi.nlm.nih.gov/pubmed/23613355,http://www.ncbi.nlm.nih.gov/pubmed/17603803,http://www.ncbi.nlm.nih.gov/pubmed/14506431,http://www.ncbi.nlm.nih.gov/pubmed/6458983,http://www.ncbi.nlm.nih.gov/pubmed/24340511,http://www.ncbi.nlm.nih.gov/pubmed/12762245,http://www.ncbi.nlm.nih.gov/pubmed/24993362,http://www.ncbi.nlm.nih.gov/pubmed/18253026,http://www.ncbi.nlm.nih.gov/pubmed/12393964,http://www.ncbi.nlm.nih.gov/pubmed/20537076,http://www.ncbi.nlm.nih.gov/pubmed/19408854,http://www.ncbi.nlm.nih.gov/pubmed/2325123,http://www.ncbi.nlm.nih.gov/pubmed/20641042,http://www.ncbi.nlm.nih.gov/pubmed/23949924,http://www.ncbi.nlm.nih.gov/pubmed/26034714,http://www.ncbi.nlm.nih.gov/pubmed/24564826,http://www.ncbi.nlm.nih.gov/pubmed/23622175,http://www.ncbi.nlm.nih.gov/pubmed/20584846,http://www.ncbi.nlm.nih.gov/pubmed/25459971,http://www.ncbi.nlm.nih.gov/pubmed/11885075,http://www.ncbi.nlm.nih.gov/pubmed/21344634,http://www.ncbi.nlm.nih.gov/pubmed/2348978

Which is the main cause of the Patau syndrome?

Patau syndrome is caused by trisomy 13.

http://www.ncbi.nlm.nih.gov/pubmed/10588843,http://www.ncbi.nlm.nih.gov/pubmed/18391513,http://www.ncbi.nlm.nih.gov/pubmed/22678921,http://www.ncbi.nlm.nih.gov/pubmed/25010117,http://www.ncbi.nlm.nih.gov/pubmed/24040047,http://www.ncbi.nlm.nih.gov/pubmed/25077096,http://www.ncbi.nlm.nih.gov/pubmed/11420125,http://www.ncbi.nlm.nih.gov/pubmed/18056774

Which is the main abnormality that arises with Sox9 locus duplication?

The 46,XX testicular disorder of sex development (DSD), also known as 46,XX male syndrome, is a rare form of DSD and clinical phenotype shows complete sex reversal from female to male. A complex network of genes determines sex in mammals. Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually SRY(-), with ovotesticular disorder of sex development (OT-DSD). SOX9 is one of the genes that play critical roles in male sexual differentiation.Thus, SOX9 duplication is the most likely cause for the sex reversal in this case because it plays an important role in male sex determination and differentiation. The SRY-box 9 (SOX9) gene has several important functions during testis development and differentiation in males, and overexpression of SOX9 leads to the male development of 46,XX gonads in the absence of SRY.Autosomal XX sex reversal caused by duplication of SOX9. Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. We report here evidence supporting that SOX9 duplication can cause XX sex reversal. Fluorescent in situ hybridization (FISH) with a BAC clone containing the SOX9 gene demonstrated that the SOX9 gene is duplicated on the rearranged chromosome 17. SOX9 duplication linked to intersex in deer. SOX9 duplication can cause XX sex reversal. SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans.Mutations of SOX9 leading to haploinsufficiency can cause campomelic dysplasia and XY sex reversal. In addition, SOX9 duplication has been found to be a rare cause of 46,XX testicular DSD in humans.Autosomal XX sex reversal caused by duplication of SOX9

http://www.ncbi.nlm.nih.gov/pubmed/17189616,http://www.ncbi.nlm.nih.gov/pubmed/17950246,http://www.ncbi.nlm.nih.gov/pubmed/19244276,http://www.ncbi.nlm.nih.gov/pubmed/23940802,http://www.ncbi.nlm.nih.gov/pubmed/24734231,http://www.ncbi.nlm.nih.gov/pubmed/26449458

Is Musclin a secretory peptide?

Yes, musclin has been described as a muscle-derived secretory peptide.

http://www.ncbi.nlm.nih.gov/pubmed/23304566,http://www.ncbi.nlm.nih.gov/pubmed/26494287,http://www.ncbi.nlm.nih.gov/pubmed/21723458,http://www.ncbi.nlm.nih.gov/pubmed/21308160,http://www.ncbi.nlm.nih.gov/pubmed/26281765,http://www.ncbi.nlm.nih.gov/pubmed/26272787,http://www.ncbi.nlm.nih.gov/pubmed/16400220,http://www.ncbi.nlm.nih.gov/pubmed/14304236,http://www.ncbi.nlm.nih.gov/pubmed/9401003,http://www.ncbi.nlm.nih.gov/pubmed/19554831,http://www.ncbi.nlm.nih.gov/pubmed/8240311,http://www.ncbi.nlm.nih.gov/pubmed/21866385,http://www.ncbi.nlm.nih.gov/pubmed/9068910,http://www.ncbi.nlm.nih.gov/pubmed/9316048,http://www.ncbi.nlm.nih.gov/pubmed/17620463,http://www.ncbi.nlm.nih.gov/pubmed/10050736

What tissue is commonly affected in Marfan's syndrome

Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescentsMarfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents. Marfan syndrome (MS) is a connective tissue disorder that affects thousands of adolescents.marfan syndrome (ms) is a connective tissue disorder that affects thousands of adolescents .

http://www.ncbi.nlm.nih.gov/pubmed/24726754

To which disease does the loss of CD28 expression by liver-infiltrating T cells contribute?

Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis.Loss of CD28 expression by liver-infiltrating T cells contributes to pathogenesis of primary sclerosing cholangitis. loss of cd28 expression by liver-infiltrating t cells contributes to pathogenesis of primary sclerosing cholangitis.

http://www.ncbi.nlm.nih.gov/pubmed/15868463,http://www.ncbi.nlm.nih.gov/pubmed/11202049,http://www.ncbi.nlm.nih.gov/pubmed/12859407

Are cutaneous porphyrias inherited with a recessive pattern?

No, cutaneous porphyrias are inherited in a dominant (not recessive) pattern.

http://www.ncbi.nlm.nih.gov/pubmed/25694097,http://www.ncbi.nlm.nih.gov/pubmed/25352204,http://www.ncbi.nlm.nih.gov/pubmed/30053153,http://www.ncbi.nlm.nih.gov/pubmed/29688496,http://www.ncbi.nlm.nih.gov/pubmed/27274814,http://www.ncbi.nlm.nih.gov/pubmed/26311869,http://www.ncbi.nlm.nih.gov/pubmed/25404321,http://www.ncbi.nlm.nih.gov/pubmed/26962157,http://www.ncbi.nlm.nih.gov/pubmed/27279622,http://www.ncbi.nlm.nih.gov/pubmed/29736037,http://www.ncbi.nlm.nih.gov/pubmed/27067649,http://www.ncbi.nlm.nih.gov/pubmed/26798032,http://www.ncbi.nlm.nih.gov/pubmed/26861827,http://www.ncbi.nlm.nih.gov/pubmed/27683818,http://www.ncbi.nlm.nih.gov/pubmed/29179602,http://www.ncbi.nlm.nih.gov/pubmed/25465382,http://www.ncbi.nlm.nih.gov/pubmed/26191408,http://www.ncbi.nlm.nih.gov/pubmed/26946569,http://www.ncbi.nlm.nih.gov/pubmed/25414384,http://www.ncbi.nlm.nih.gov/pubmed/27521366,http://www.ncbi.nlm.nih.gov/pubmed/25760722,http://www.ncbi.nlm.nih.gov/pubmed/28073857,http://www.ncbi.nlm.nih.gov/pubmed/25171469,http://www.ncbi.nlm.nih.gov/pubmed/27637475,http://www.ncbi.nlm.nih.gov/pubmed/25648233,http://www.ncbi.nlm.nih.gov/pubmed/27676206,http://www.ncbi.nlm.nih.gov/pubmed/25260583,http://www.ncbi.nlm.nih.gov/pubmed/27465308,http://www.ncbi.nlm.nih.gov/pubmed/25387576,http://www.ncbi.nlm.nih.gov/pubmed/28357917,http://www.ncbi.nlm.nih.gov/pubmed/25648530,http://www.ncbi.nlm.nih.gov/pubmed/27732819,http://www.ncbi.nlm.nih.gov/pubmed/27959624

Which disease is treated with ZMapp?

ZMapp is a combination of antibodies for treatment of Ebola virus disease.Vectored delivery of the ZMapp antibody cocktail (c2G4, c4G7, and c13C6) by using recombinant adeno-associated viruses (rAAVs) is useful for preventive immunization against Ebola virus infection.

http://www.ncbi.nlm.nih.gov/pubmed/16629766,http://www.ncbi.nlm.nih.gov/pubmed/27130656,http://www.ncbi.nlm.nih.gov/pubmed/10980581,http://www.ncbi.nlm.nih.gov/pubmed/23095199,http://www.ncbi.nlm.nih.gov/pubmed/10923034,http://www.ncbi.nlm.nih.gov/pubmed/21626167,http://www.ncbi.nlm.nih.gov/pubmed/2629632,http://www.ncbi.nlm.nih.gov/pubmed/17457696,http://www.ncbi.nlm.nih.gov/pubmed/12673793,http://www.ncbi.nlm.nih.gov/pubmed/11592438,http://www.ncbi.nlm.nih.gov/pubmed/9490685,http://www.ncbi.nlm.nih.gov/pubmed/23533858,http://www.ncbi.nlm.nih.gov/pubmed/20532821,http://www.ncbi.nlm.nih.gov/pubmed/9453374,http://www.ncbi.nlm.nih.gov/pubmed/10679944,http://www.ncbi.nlm.nih.gov/pubmed/24461181,http://www.ncbi.nlm.nih.gov/pubmed/14656017,http://www.ncbi.nlm.nih.gov/pubmed/20236116,http://www.ncbi.nlm.nih.gov/pubmed/22521626,http://www.ncbi.nlm.nih.gov/pubmed/9781030,http://www.ncbi.nlm.nih.gov/pubmed/11181567,http://www.ncbi.nlm.nih.gov/pubmed/17349292,http://www.ncbi.nlm.nih.gov/pubmed/8124871

Can methylenetetrahydrofolate reductase (MTHFR) gene mutations cause homocystinuria?

Yes, several methylenetetrahydrofolate reductase (MTHFR) gene mutations can cause homocystinuria and hyperhomocysteinemia.

http://www.ncbi.nlm.nih.gov/pubmed/22704343,http://www.ncbi.nlm.nih.gov/pubmed/27158526,http://www.ncbi.nlm.nih.gov/pubmed/24682951,http://www.ncbi.nlm.nih.gov/pubmed/21511815

What happens to H2AX upon DNA bouble strand breaks?

Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR) phosphorylated h2ax (γh2ax) is rapidly concentrated in chromatin domains around dna double-strand breaks (dsbs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress.Defective or inefficient DNA double-strand break (DSB) repair results in failure to preserve genomic integrity leading to apoptotic cell death, a hallmark of systemic lupus erythematosus (SLE). Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress.The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). Phosphorylated H2AX (γH2AX) is rapidly concentrated in chromatin domains around DNA double-strand breaks (DSBs) after the action of ionizing radiation or chemical agents and at stalled replication forks during replication stress. DNA double-strand breaks in heterochromatin elicit fast repair protein recruitment, histone H2AX phosphorylation and relocation to euchromatinHistone H2AX phosphorylation as a measure of DNA double-strand breaks and a marker of environmental stress and disease activity in lupus. DSBs were quantified in peripheral blood mononuclear cell subsets from patients with SLE, healthy controls, and patients with rheumatoid arthritis (RA) by measuring phosphorylated H2AX (phospho-H2AX) levels with flow cytometry. Most hydrogen peroxide-induced histone H2AX phosphorylation is mediated by ATR and is not dependent on DNA double-strand breaks. The nuclear foci of phosphorylated histone H2AX (H2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). These results suggest that a major fraction of H2AX induced by oxidative stress is not associated with DSBs. Defective or inefficient DNA double-strand break (DSB) repair results in failure to preserve genomic integrity leading to apoptotic cell death, a hallmark of systemic lupus erythematosus (SLE). The nuclear foci of phosphorylated histone H2AX (γH2AX) are frequently used as a marker for DNA double-strand breaks (DSBs) following ionizing radiation (IR). A sequence variant of histone H2A called H2AX is one of the key components of chromatin involved in DNA damage response induced by different genotoxic stresses. DNA double-strand breaks (DSBs) can induce chromosomal aberrations and carcinogenesis and their correct repair is crucial for genetic stability.DSBs were quantified in peripheral blood mononuclear cell subsets from patients with SLE, healthy controls, and patients with rheumatoid arthritis (RA) by measuring phosphorylated H2AX (phospho-H2AX) levels with flow cytometry DNA double-strand breaks in heterochromatin elicit fast repair protein recruitment, histone H2AX phosphorylation and relocation to euchromatin

http://www.ncbi.nlm.nih.gov/pubmed/26786929,http://www.ncbi.nlm.nih.gov/pubmed/26976976,http://www.ncbi.nlm.nih.gov/pubmed/26194676,http://www.ncbi.nlm.nih.gov/pubmed/26925628,http://www.ncbi.nlm.nih.gov/pubmed/22168970,http://www.ncbi.nlm.nih.gov/pubmed/25066904,http://www.ncbi.nlm.nih.gov/pubmed/21880994,http://www.ncbi.nlm.nih.gov/pubmed/26420896,http://www.ncbi.nlm.nih.gov/pubmed/25648357,http://www.ncbi.nlm.nih.gov/pubmed/18751431,http://www.ncbi.nlm.nih.gov/pubmed/27889835,http://www.ncbi.nlm.nih.gov/pubmed/24328881,http://www.ncbi.nlm.nih.gov/pubmed/23523186

Can valproic acid prolong survival of glioblastoma patients?

Yes, there is evidence to suggest that valproic acid (VPA) is associated with prolonged survival of glioblastoma patients. Several studies have indicated that VPA has radiosensitizing effects for gliomas and radioprotective influence on normal brain tissue or hippocampal neurons.

http://www.ncbi.nlm.nih.gov/pubmed/27588474

What is the effect of the direct interaction of Ikaros and Foxp1 in B-lymphocytes?

Direct interaction of Ikaros and Foxp1 modulates expression of the G protein-coupled receptor G2A in B-lymphocytes and acute lymphoblastic leukemia.The effect of the direct interaction of Ikaros and Foxp1 in B-lymphocytesis is modulation of expression of the G protein-coupled receptor G2A.

http://www.ncbi.nlm.nih.gov/pubmed/17652350,http://www.ncbi.nlm.nih.gov/pubmed/19412548

Which syndrome is caused by deletion of Pds5b in mice?

Mice lacking sister chromatid cohesion protein Pds5b exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome. Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndrome.Mice lacking sister chromatid cohesion protein PDS5B exhibit developmental abnormalities reminiscent of Cornelia de Lange syndromemice lacking sister chromatid cohesion protein pds5b exhibit developmental abnormalities reminiscent of cornelia de lange syndrome.

http://www.ncbi.nlm.nih.gov/pubmed/9345098,http://www.ncbi.nlm.nih.gov/pubmed/21932011,http://www.ncbi.nlm.nih.gov/pubmed/12749056,http://www.ncbi.nlm.nih.gov/pubmed/16847078,http://www.ncbi.nlm.nih.gov/pubmed/24751896,http://www.ncbi.nlm.nih.gov/pubmed/24342716,http://www.ncbi.nlm.nih.gov/pubmed/24093814,http://www.ncbi.nlm.nih.gov/pubmed/21068380,http://www.ncbi.nlm.nih.gov/pubmed/8884581,http://www.ncbi.nlm.nih.gov/pubmed/11975944,http://www.ncbi.nlm.nih.gov/pubmed/12112112,http://www.ncbi.nlm.nih.gov/pubmed/16857210,http://www.ncbi.nlm.nih.gov/pubmed/21987083,http://www.ncbi.nlm.nih.gov/pubmed/23523468,http://www.ncbi.nlm.nih.gov/pubmed/23031367,http://www.ncbi.nlm.nih.gov/pubmed/8487269,http://www.ncbi.nlm.nih.gov/pubmed/25185984,http://www.ncbi.nlm.nih.gov/pubmed/8434619,http://www.ncbi.nlm.nih.gov/pubmed/17353728,http://www.ncbi.nlm.nih.gov/pubmed/19037987,http://www.ncbi.nlm.nih.gov/pubmed/25776009

What is the inheritance of Barth syndrome?

Barth syndrome (BTHS) has an X-linked recessive pattern of inheritance.

http://www.ncbi.nlm.nih.gov/pubmed/26246081,http://www.ncbi.nlm.nih.gov/pubmed/12602722,http://www.ncbi.nlm.nih.gov/pubmed/27852678,http://www.ncbi.nlm.nih.gov/pubmed/12219115

Is Cryptococcus neoformans a frequent cause of isolated skin infections in immunocompromised individuals

Primary cutaneous cryptococcosis (PCC) without systemic infection is rare.

http://www.ncbi.nlm.nih.gov/pubmed/27044711,http://www.ncbi.nlm.nih.gov/pubmed/25370471,http://www.ncbi.nlm.nih.gov/pubmed/27573562,http://www.ncbi.nlm.nih.gov/pubmed/26830312,http://www.ncbi.nlm.nih.gov/pubmed/26733612,http://www.ncbi.nlm.nih.gov/pubmed/27565810,http://www.ncbi.nlm.nih.gov/pubmed/26965285,http://www.ncbi.nlm.nih.gov/pubmed/27489350,http://www.ncbi.nlm.nih.gov/pubmed/27048952,http://www.ncbi.nlm.nih.gov/pubmed/24754926,http://www.ncbi.nlm.nih.gov/pubmed/27155741,http://www.ncbi.nlm.nih.gov/pubmed/27012832,http://www.ncbi.nlm.nih.gov/pubmed/27529512,http://www.ncbi.nlm.nih.gov/pubmed/26976426

What is the mechanism of action of Pictilisib?

Pictilisib acts by inhibiting PI3K. It is used for breast cancer treatment.

http://www.ncbi.nlm.nih.gov/pubmed/26463981,http://www.ncbi.nlm.nih.gov/pubmed/26961318,http://www.ncbi.nlm.nih.gov/pubmed/26796034

What are sirtuins?

Seven sirtuins have been identified in humans, and their functions currently surpass their originally identified role as histone deacetylase and chromatin silencers to encompass nutrient sensing and metabolic function. All seven sirtuins require NAD(+) in order to carry out their enzymatic activity, and thus become activated in conditions of nutrient depletion, starvation, and cellular stress.

http://www.ncbi.nlm.nih.gov/pubmed/23446346,http://www.ncbi.nlm.nih.gov/pubmed/23389731,http://www.ncbi.nlm.nih.gov/pubmed/25580223

Which miRNA is targeted by SRY/Sox9?

The testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenonDoes the linear Sry transcript function as a ceRNA for miR-138?. Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138. Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1 (HIF-1), and overexpression of SOX4 and HIF-1 effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. , the sex determining region y ( sry) and the cerebellar degeneration-related protein 1 ( cdr1as) rna transcripts have been described to function as a new class of post-transcriptional regulatory rnas that behave as circular endogenous rna sponges for the micro rnas (mirnas) mir-138 and mir-7 , respectively . Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138.Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively.Does the linear Sry transcript function as a ceRNA for miR-138?. Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1 (HIF-1), and overexpression of SOX4 and HIF-1 effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon. it is reasonable to think that the linear Sry sense transcript could additionally act as a miRNA sponge, or as an endogenous competing RNA for miR-138. Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. recently, the sex determining region y ( sry) and the cerebellar degeneration-related protein 1 ( cdr1as) rna transcripts have been described to function as a new class of post-transcriptional regulatory rnas that behave as circular endogenous rna sponges for the micro rnas (mirnas) mir-138 and mir-7, respectively.Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. Metastasis is the major factor affecting patient survival in ovarian cancer. MicroRNAs (miRNAs) are important post-transcriptional regulators of gene expression that act by direct base pairing to target sites within untranslated regions of messenger RNAs.Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1α (HIF-1α), and overexpression of SOX4 and HIF-1α effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon.Does the linear Sry transcript function as a ceRNA for miR-138? Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively.Recently, the sex determining region Y ( Sry) and the cerebellar degeneration-related protein 1 ( CDR1as) RNA transcripts have been described to function as a new class of post-transcriptional regulatory RNAs that behave as circular endogenous RNA sponges for the micro RNAs (miRNAs) miR-138 and miR-7, respectively. Epidermal growth factor receptor acted as the downstream molecule of SOX4 by way of direct transcriptional control, whereas Slug was the downstream molecule of HIF-1α by way of proteasome-mediated degradation.Results indicated that miR-138 directly targeted SRY-related high mobility group box 4 (SOX4) and hypoxia-inducible factor-1α (HIF-1α), and overexpression of SOX4 and HIF-1α effectively reversed the miR-138-mediated suppression of cell invasion. We further show that the testis-specific circRNA, sex-determining region Y (Sry), serves as a miR-138 sponge, suggesting that miRNA sponge effects achieved by circRNA formation are a general phenomenon.