An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval.

No abstract is available for this paper.

• Publication year

  2014

• Venue

  American Journal of Human Genetics

• Publication date

  2014-06-05

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1016/j.ajhg.2014.05.001PMID 24857694PMCID PMC4121472
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2012cited by this paper
• Rapid dissection and model-based optimization of inducible enhancers in human cells using a massively parallel reporter assay

  2012cited by this paper
• Massively parallel functional dissection of mammalian enhancers in vivo

  2012cited by this paper
• Chromatin accessibility pre-determines glucocorticoid receptor binding patterns

  2011cited by this paper
• Functional and mechanistic diversity of distal transcription enhancers.

  2011cited by this paper
• Large-Scale Discovery of Enhancers from Human Heart Tissue

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• FERM domain interaction with myosin negatively regulates FAK in cardiomyocyte hypertrophy.

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• A map of human genome variation from population-scale sequencing

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  2009cited by this paper
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  2009cited by this paper
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  2009cited by this paper
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• Shadow Enhancers as a Source of Evolutionary Novelty

  2008cited by this paper
• CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart

  2008influential reference
• F-Seq: a feature density estimator for high-throughput sequence tags

  2008cited by this paper
• Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry

  2008cited by this paper
• High-resolution mapping and characterization of open chromatin across the genome.

  2008cited by this paper
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  2006cited by this paper
• Simple sequence repeats as advantageous mutators in evolution.

  2006cited by this paper
• Optical imaging of arrhythmias in tissue culture.

  2006cited by this paper
• A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

  2006influential reference
• Complement Factor H Polymorphism in Age-Related Macular Degeneration

  2005cited by this paper
• A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk

  2005cited by this paper
• QT interval is a heritable quantitative trait with evidence of linkage to chromosome 3 in a genome-wide linkage analysis: The Framingham Heart Study.

  2005cited by this paper
• Clinical research: risk predictors and coronary diseaseHeart rate-corrected QT interval prolongation predicts risk of coronary heart disease in black and white middle-aged men and women: The ARIC study☆

  2004cited by this paper
• The UCSC Table Browser data retrieval tool

  2004cited by this paper
• Heart rate-corrected QT interval prolongation predicts risk of coronary heart disease in black and white middle-aged men and women: the ARIC study.

  2004cited by this paper
• Genetics of Cardiac Arrhythmias and Sudden Cardiac Death

  2004cited by this paper
• A haplotype map of the human genome

  2003cited by this paper
• A haplotype map of the human genome.

  2003cited by this paper
• The human genome browser at UCSC.

  2002cited by this paper
• Initial sequencing and analysis of the human genome

  2001cited by this paper
• Primer3 on the WWW for general users and for biologist programmers.

  2000cited by this paper
• HL-1 cells: a cardiac muscle cell line that contracts and retains phenotypic characteristics of the adult cardiomyocyte.

  1998influential reference
• Consed: a graphical tool for sequence finishing.

  1998cited by this paper
• CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95.

  1998cited by this paper
• Simple sequence repeats as a source of quantitative genetic variation.

  1997cited by this paper
• The zebrafish book : a guide for the laboratory use of zebrafish (Danio rerio)

  1995cited by this paper
• E1A-associated p300 and CREB-associated CBP belong to a conserved family of coactivators.

  1994cited by this paper
• Identification of the cystic fibrosis gene: genetic analysis

  1989cited by this paper
• The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators

  1989cited by this paper
• Identification of the cystic fibrosis gene: genetic analysis.

  1989cited by this paper
• The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators.

  1989cited by this paper
• Nuclease hypersensitive sites in chromatin.

  1988cited by this paper
• Analysis of mutation in human cells by using an Epstein-Barr virus shuttle system

  1987cited by this paper
• Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

  1970cited by this paper
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  year unknowncited by this paper

• Mapping cardiac electrical abnormalities in rodents.

  2025cites this paper
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  2025cites this paper
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  2025cites this paper
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  2024cites this paper
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  2023cites this paper
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  2023cites this paper
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  2021cites this paper
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  2020cites this paper
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  2020cites this paper
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  2020cites this paper
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  2019cites this paper
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  2019cites this paper
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  2018cites this paper
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  2018cites this paper
• Nitric oxide signalling in cardiovascular health and disease

  2018cites this paper
• The pursuit of mechanistic insights underpinning calcium-dependent inactivation of L-type calcium channels: All roads lead to calmodulin

  2018cites this paper
• The Post-GWAS Era: From Association to Function.

  2018cites this paper
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  2018cites this paper
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  2018cites this paper
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• Pharmacogenetics of Drug-Induced QT Interval Prolongation: An Update

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• Non-coding genetic variants in human disease.

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  2015cites this paper
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  2015cites this paper
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  2014cites this paper
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  2014influential citation
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  2014cites this paper
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  1964cites this paper
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  year unknowncites this paper
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  year unknowncites this paper