Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer. - Wikidata - awgldk - TriplyDB

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

http://www.wikidata.org/entity/Q38324392

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Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndrome The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance Investigating the transcriptional control of cardiovascular development Transcriptional repressor Tbx3 is required for the hormone-sensing cell lineage in mammary epithelium Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death Tbx2 controls lung growth by direct repression of the cell cycle inhibitor genes Cdkn1a and Cdkn1b Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures Reciprocal myocardial-endocardial interactions pattern the delay in atrioventricular junction conduction.Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.OccuPeak: ChIP-Seq peak calling based on internal background modelling 52 Genetic Loci Influencing Myocardial Mass.Genetic determinants of P wave duration and PR segment Brugada syndrome risk loci seem protective against atrial fibrillation.Models of human core transcriptional regulatory circuitries.Dynamic GATA4 enhancers shape the chromatin landscape central to heart development and disease.Genome-wide screens for in vivo Tinman binding sites identify cardiac enhancers with diverse functional architectures.TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.Long-range regulatory interactions at the 4q25 atrial fibrillation risk locus involve PITX2c and ENPEP.Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.A common Shox2-Nkx2-5 antagonistic mechanism primes the pacemaker cell fate in the pulmonary vein myocardium and sinoatrial node.NKX2-5 mutations causative for congenital heart disease retain functionality and are directed to hundreds of targets.Sequential Binding of MEIS1 and NKX2-5 on the Popdc2 Gene: A Mechanism for Spatiotemporal Regulation of Enhancers during Cardiogenesis Regulatory single nucleotide polymorphisms (rSNPs) at the promoters 1A and 1B of the human APC gene MicroRNA 19a replacement partially rescues fin and cardiac defects in zebrafish model of Holt Oram syndrome.Genetic Regulation of Sinoatrial Node Development and Pacemaker Program in the Venous Pole Spatiotemporal regulation of an Hcn4 enhancer defines a role for Mef2c and HDACs in cardiac electrical patterning Brugada Syndrome: Clinical, Genetic, Molecular, Cellular, and Ionic Aspects.SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis.Suboptimization of developmental enhancers Novel Therapeutic Strategies for the Management of Ventricular Arrhythmias Associated with the Brugada Syndrome Genome-wide compendium and functional assessment of in vivo heart enhancers.Variants in the SCN5A Promoter Associated With Various Arrhythmia Phenotypes Neuronal Nav1.8 Channels as a Novel Therapeutic Target of Acute Atrial Fibrillation Prevention.Nav-igating through a complex landscape: SCN10A and cardiac conduction.A common genetic variant within SCN10A modulates cardiac SCN5A expression Common SCN10A variants modulate PR interval and heart rate response during atrial fibrillation.Recent genetic discoveries implicating ion channels in human cardiovascular diseases A molecular and genetic outline of cardiac morphogenesis.

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P2860

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

http://www.wikidata.org/entity/Q38324392

description

2012 nî lūn-bûn

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2012年の論文

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年学术文章

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2012年學術文章

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2012年學術文章

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2012年學術文章

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name

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

@en

type

label

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

@en

prefLabel

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

@en

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Journal of Clinical Investigation

P1476

Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.

@en

P2093

Connie R Bezzina

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Federico Tessadori

http://www.w3.org/2001/XMLSchema#string

L Y Elaine Wong

http://www.w3.org/2001/XMLSchema#string

Lisa K Dreizehnter

http://www.w3.org/2001/XMLSchema#string

Malou van den Boogaard

http://www.w3.org/2001/XMLSchema#string

Martijn L Bakker

http://www.w3.org/2001/XMLSchema#string

Phil Barnett

http://www.w3.org/2001/XMLSchema#string

Vincent M Christoffels

http://www.w3.org/2001/XMLSchema#string

Vincent Wakker

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P2860

Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding

Genomic views of distant-acting enhancers

A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome

TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence

Genetic variation in SCN10A influences cardiac conduction

Congenital heart disease caused by mutations in the transcription factor NKX2-5

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome

Tbx20 regulates a genetic program essential to adult mouse cardiomyocyte function

Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations

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2519-2530

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scholarly article

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10.1172/JCI62613

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P433

7

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P478

122

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Peter A.C. 't Hoen

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2012-06-18T00:00:00Z

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227174179

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22706305

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3386824

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