Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
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Mutations in SCN10A are responsible for a large fraction of cases of Brugada syndromeThe Brugada Syndrome: A Rare Arrhythmia Disorder with Complex InheritanceInvestigating the transcriptional control of cardiovascular developmentTranscriptional repressor Tbx3 is required for the hormone-sensing cell lineage in mammary epitheliumCommon variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac deathTbx2 controls lung growth by direct repression of the cell cycle inhibitor genes Cdkn1a and Cdkn1bDiscovery and validation of sub-threshold genome-wide association study loci using epigenomic signaturesReciprocal myocardial-endocardial interactions pattern the delay in atrioventricular junction conduction.Detection of regulatory SNPs in human genome using ChIP-seq ENCODE dataDeleterious 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 modelling52 Genetic Loci Influencing Myocardial Mass.Genetic determinants of P wave duration and PR segmentBrugada 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 CardiogenesisRegulatory single nucleotide polymorphisms (rSNPs) at the promoters 1A and 1B of the human APC geneMicroRNA 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 PoleSpatiotemporal regulation of an Hcn4 enhancer defines a role for Mef2c and HDACs in cardiac electrical patterningBrugada 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 enhancersNovel Therapeutic Strategies for the Management of Ventricular Arrhythmias Associated with the Brugada SyndromeGenome-wide compendium and functional assessment of in vivo heart enhancers.Variants in the SCN5A Promoter Associated With Various Arrhythmia PhenotypesNeuronal 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 expressionCommon SCN10A variants modulate PR interval and heart rate response during atrial fibrillation.Recent genetic discoveries implicating ion channels in human cardiovascular diseasesA molecular and genetic outline of cardiac morphogenesis.
P2860
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P2860
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
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
P2093
P2860
P356
P1476
Genetic variation in T-box binding element functionally affects SCN5A/SCN10A enhancer.
@en
P2093
Connie R Bezzina
Federico Tessadori
L Y Elaine Wong
Lisa K Dreizehnter
Malou van den Boogaard
Martijn L Bakker
Phil Barnett
Vincent M Christoffels
Vincent Wakker
P2860
P304
P356
10.1172/JCI62613
P407
P577
2012-06-18T00:00:00Z