NOS1AP is a genetic modifier of the long-QT syndrome.

PubWeight™: 2.00‹?› | Rank: Top 2%

🔗 View Article (PMC 2783481)

Published in Circulation on October 12, 2009

Authors

Lia Crotti1, Maria Cristina Monti, Roberto Insolia, Anna Peljto, Althea Goosen, Paul A Brink, David A Greenberg, Peter J Schwartz, Alfred L George

Author Affiliations

1: Department of Lung, Blood, and Heart, University of Pavia, Pavia, Italy.

Articles citing this

Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop. Circulation (2010) 2.94

Modulation of KCNQ1 alternative splicing regulates cardiac IKs and action potential repolarization. Heart Rhythm (2013) 2.61

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Hum Genet (2013) 2.44

Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30

Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol (2012) 2.24

Common genetic variants, QT interval, and sudden cardiac death in a Finnish population-based study. Circ Cardiovasc Genet (2011) 1.67

Clinical and genetic determinants of torsade de pointes risk. Circulation (2012) 1.67

Epidemiology and genetics of sudden cardiac death. Circulation (2012) 1.65

Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. J Am Coll Cardiol (2014) 1.65

Relationship of common candidate gene variants to electrocardiographic T-wave peak to T-wave end interval and T-wave morphology parameters. Heart Rhythm (2010) 1.58

Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. J Am Coll Cardiol (2012) 1.58

Autonomic control of heart rate and QT interval variability influences arrhythmic risk in long QT syndrome type 1. J Am Coll Cardiol (2015) 1.52

Torsades de pointes following acute myocardial infarction: evidence for a deadly link with a common genetic variant. Heart Rhythm (2012) 1.46

Genome-wide association studies in cardiac electrophysiology: recent discoveries and implications for clinical practice. Heart Rhythm (2010) 1.45

Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner. Eur Heart J (2011) 1.41

Early identification of risk factors for sudden cardiac death. Nat Rev Cardiol (2010) 1.27

Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes. Transl Res (2012) 1.25

Genetic testing for inherited cardiac disease. Nat Rev Cardiol (2013) 1.20

Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2. Circ Cardiovasc Genet (2015) 1.19

Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia. J Am Coll Cardiol (2012) 1.15

Risk stratification for sudden cardiac death: current status and challenges for the future. Eur Heart J (2014) 1.11

Common variants in CASQ2, GPD1L, and NOS1AP are significantly associated with risk of sudden death in patients with coronary artery disease. Circ Cardiovasc Genet (2011) 1.09

Co-clustering phenome-genome for phenotype classification and disease gene discovery. Nucleic Acids Res (2012) 1.05

A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death. Circ Cardiovasc Genet (2010) 1.04

Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Circ Cardiovasc Genet (2013) 1.03

Cardiovascular pharmacogenomics. Circ Res (2011) 1.03

Genotype- and phenotype-guided management of congenital long QT syndrome. Curr Probl Cardiol (2013) 1.01

Long QT syndrome: beyond the causal mutation. J Physiol (2013) 1.00

Drug-induced arrhythmia: pharmacogenomic prescribing? Eur Heart J (2012) 1.00

The measurement of the QT interval. Curr Cardiol Rev (2014) 1.00

Long QT syndrome in South Africa: the results of comprehensive genetic screening. Cardiovasc J Afr (2013) 0.94

Genetics of congenital and drug-induced long QT syndromes: current evidence and future research perspectives. J Interv Card Electrophysiol (2013) 0.94

An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am J Hum Genet (2014) 0.90

The genetics underlying acquired long QT syndrome: impact for genetic screening. Eur Heart J (2015) 0.89

Genetic testing in cardiovascular diseases. Curr Opin Cardiol (2014) 0.88

Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome. Heart Rhythm (2011) 0.87

Gene mutations in cardiac arrhythmias: a review of recent evidence in ion channelopathies. Appl Clin Genet (2013) 0.87

The investigation of sudden arrhythmic death syndrome (SADS)-the current approach to family screening and the future role of genomics and stem cell technology. Front Physiol (2013) 0.86

Positive association between rs10918859 of the NOS1AP gene and coronary heart disease in male Han Chinese. Genet Test Mol Biomarkers (2012) 0.84

Novel genes for QTc interval. How much heritability is explained, and how much is left to find? Genome Med (2010) 0.84

AKAP9 is a genetic modifier of congenital long-QT syndrome type 1. Circ Cardiovasc Genet (2014) 0.83

Predicting drug-induced QT prolongation and torsades de pointes. J Physiol (2016) 0.82

Diabetes, lower extremity amputation, loss of protective sensation, and neuronal nitric oxide synthase associated protein in the chronic renal insufficiency cohort study. Wound Repair Regen (2012) 0.81

The genetics of sudden cardiac death. Annu Rev Genomics Hum Genet (2012) 0.81

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention. Epilepsia (2016) 0.81

Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome. Neth Heart J (2010) 0.80

Genetic testing of inherited arrhythmias. Pediatr Cardiol (2012) 0.79

CAPON modulates neuronal calcium handling and cardiac sympathetic neurotransmission during dysautonomia in hypertension. Hypertension (2015) 0.79

Detection of susceptibility genes as modifiers due to subgroup differences in complex disease. Eur J Hum Genet (2010) 0.79

Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation. Circ Cardiovasc Genet (2013) 0.78

QTc prolongation prior to angiography predicts poor outcome and associates significantly with lower left ventricular ejection fractions and higher left ventricular end-diastolic pressures. Cardiovasc J Afr (2012) 0.77

Nitric Oxide Synthase 1 Adaptor Protein, an Emerging New Genetic Marker for QT Prolongation and Sudden Cardiac Death. Zhonghua Minguo Xin Zang Xue Hui Za Zhi (2013) 0.77

Genetics of inherited primary arrhythmia disorders. Appl Clin Genet (2015) 0.77

Cardiovascular pharmacogenomics: the future of cardiovascular therapeutics? Can J Cardiol (2012) 0.77

Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit. Biochim Biophys Acta (2011) 0.77

Inherited arrhythmia syndromes leading to sudden cardiac death in the young: a global update and an Indian perspective. Indian Heart J (2013) 0.76

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation. PLoS One (2014) 0.76

Personalized medicine and the genotype-phenotype dilemma. J Interv Card Electrophysiol (2011) 0.76

Personalized medicine to treat arrhythmias. Curr Opin Pharmacol (2013) 0.75

Channelopathies - emerging trends in the management of inherited arrhythmias. Indian Pacing Electrophysiol J (2015) 0.75

Common Genetic Variant Risk Score Is Associated With Drug-Induced QT Prolongation and Torsade de Pointes Risk: A Pilot Study. Circulation (2017) 0.75

Genome-wide association studies and contribution to cardiovascular physiology. Physiol Genomics (2015) 0.75

Cardiac sympatho-vagal balance and ventricular arrhythmia. Auton Neurosci (2016) 0.75

Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. J Cardiovasc Dis Res (2012) 0.75

Defining the disconnect between in vitro models and human arrhythmogenic disease: context matters. Circulation (2011) 0.75

Almanac 2011: Cardiac Arrhythmias and Pacing. The National Society Journals Present Selected Research that has Driven Recent Advances in Clinical Cardiology. Mater Sociomed (2011) 0.75

Genetic Basis of Ventricular Arrhythmias. Curr Cardiovasc Risk Rep (2010) 0.75

The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths. Int J Legal Med (2016) 0.75

From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health. Am J Hum Genet (2017) 0.75

Articles cited by this

The structure of haplotype blocks in the human genome. Science (2002) 50.88

A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet (2004) 14.76

Adjusting multiple testing in multilocus analyses using the eigenvalues of a correlation matrix. Heredity (Edinb) (2005) 9.85

A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet (2000) 7.70

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias. Nat Genet (1996) 7.35

Risk stratification in the long-QT syndrome. N Engl J Med (2003) 7.25

A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization. Nat Genet (2006) 6.39

Common variants at ten loci influence QT interval duration in the QTGEN Study. Nat Genet (2009) 5.20

Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10

QT interval prolongation as predictor of sudden death in patients with myocardial infarction. Circulation (1978) 3.32

Low penetrance in the long-QT syndrome: clinical impact. Circulation (1999) 3.14

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. Circulation (2007) 2.88

Common NOS1AP variants are associated with a prolonged QTc interval in the Rotterdam Study. Circulation (2007) 2.82

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78

Genetic variations in nitric oxide synthase 1 adaptor protein are associated with sudden cardiac death in US white community-based populations. Circulation (2009) 2.55

Determinants of prolonged QT interval and their contribution to sudden death risk in coronary artery disease: the Oregon Sudden Unexpected Death Study. Circulation (2009) 2.31

Compound mutations: a common cause of severe long-QT syndrome. Circulation (2004) 2.29

Associations between genetic variants in the NOS1AP (CAPON) gene and cardiac repolarization in the old order Amish. Hum Hered (2007) 2.26

Identification of a schizophrenia-associated functional noncoding variant in NOS1AP. Am J Psychiatry (2009) 1.85

CAPON modulates cardiac repolarization via neuronal nitric oxide synthase signaling in the heart. Proc Natl Acad Sci U S A (2008) 1.66

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation (2007) 1.58

Association of NOS1AP genetic variants with QT interval duration in families from the Diabetes Heart Study. Diabetes (2008) 1.53

Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study. BMC Med Genet (2007) 1.49

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population. Circulation (2005) 1.48

Gender and effects of a common genetic variant in the NOS1 regulator NOS1AP on cardiac repolarization in 3761 individuals from two independent populations. Int J Epidemiol (2008) 1.44

Identification of a common variant at the NOS1AP locus strongly associated to QT-interval duration. Hum Mol Genet (2008) 1.37

Common variation in NOS1AP and KCNH2 genes and QT interval duration in young adults. The Cardiovascular Risk in Young Finns Study. Ann Med (2009) 1.20

How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome. J Cardiovasc Electrophysiol (2003) 1.19

Multiple independent genetic factors at NOS1AP modulate the QT interval in a multi-ethnic population. PLoS One (2009) 1.05

A common NOS1AP genetic polymorphism is associated with increased cardiovascular mortality in users of dihydropyridine calcium channel blockers. Br J Clin Pharmacol (2008) 0.91

Analysis of single nucleotide polymorphisms in candidate genes using the pedigree disequilibrium test. Genet Epidemiol (2001) 0.82

Articles by these authors

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell (2004) 7.45

Risk stratification in the long-QT syndrome. N Engl J Med (2003) 7.25

Vascular endothelial growth factor (VEGF) stimulates neurogenesis in vitro and in vivo. Proc Natl Acad Sci U S A (2002) 5.09

Heart-rate profile during exercise as a predictor of sudden death. N Engl J Med (2005) 4.85

VEGF-induced neuroprotection, neurogenesis, and angiogenesis after focal cerebral ischemia. J Clin Invest (2003) 4.74

HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Heart Rhythm (2013) 4.62

Prevalence of the congenital long-QT syndrome. Circulation (2009) 4.32

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation (2007) 4.10

PiggyBac transposon-mediated gene transfer in human cells. Mol Ther (2007) 4.07

Molecular basis of an inherited epilepsy. Neuron (2002) 3.77

Increased hippocampal neurogenesis in Alzheimer's disease. Proc Natl Acad Sci U S A (2003) 3.52

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice. JAMA (2005) 3.51

Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA (2004) 3.24

Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A). J Clin Invest (2003) 3.00

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation (2002) 2.98

Long QT syndrome in adults. J Am Coll Cardiol (2007) 2.93

Chronic vagus nerve stimulation: a new and promising therapeutic approach for chronic heart failure. Eur Heart J (2010) 2.86

High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures". Circulation (2008) 2.83

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation. Epilepsia (2008) 2.81

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome. Circulation (2005) 2.78

Directed migration of neuronal precursors into the ischemic cerebral cortex and striatum. Mol Cell Neurosci (2003) 2.68

Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation (2013) 2.66

Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome. Circulation (2004) 2.63

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation (2008) 2.56

Evidence for stroke-induced neurogenesis in the human brain. Proc Natl Acad Sci U S A (2006) 2.55

The genetic basis of long QT and short QT syndromes: a mutation update. Hum Mutat (2009) 2.54

Reversal of Alzheimer's-like pathology and behavior in human APP transgenic mice by mutation of Asp664. Proc Natl Acad Sci U S A (2006) 2.45

Pharmacogenetics of long-term responses to antiretroviral regimens containing Efavirenz and/or Nelfinavir: an Adult Aids Clinical Trials Group Study. J Infect Dis (2005) 2.43

Neuroglobin protects the brain from experimental stroke in vivo. Proc Natl Acad Sci U S A (2003) 2.42

Risk factors for aborted cardiac arrest and sudden cardiac death in children with the congenital long-QT syndrome. Circulation (2008) 2.40

Recommendations for interpretation of 12-lead electrocardiogram in the athlete. Eur Heart J (2009) 2.37

Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med (2008) 2.34

Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function. Circulation (2007) 2.33

Impact of genetics on the clinical management of channelopathies. J Am Coll Cardiol (2013) 2.30

Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation (2007) 2.28

Neurogenesis and aging: FGF-2 and HB-EGF restore neurogenesis in hippocampus and subventricular zone of aged mice. Aging Cell (2003) 2.27

Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm (2011) 2.26

Genome-wide association study of blood pressure extremes identifies variant near UMOD associated with hypertension. PLoS Genet (2010) 2.24

Long-QT syndrome: from genetics to management. Circ Arrhythm Electrophysiol (2012) 2.24

Structure of KCNE1 and implications for how it modulates the KCNQ1 potassium channel. Biochemistry (2008) 2.22

Modulating effects of age and gender on the clinical course of long QT syndrome by genotype. J Am Coll Cardiol (2003) 2.22

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation (2002) 2.20

Enhanced neurogenesis in Alzheimer's disease transgenic (PDGF-APPSw,Ind) mice. Proc Natl Acad Sci U S A (2004) 2.20

Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J (2006) 2.15

Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals. J Am Coll Cardiol (2011) 2.15

Neuroglobin-overexpressing transgenic mice are resistant to cerebral and myocardial ischemia. Proc Natl Acad Sci U S A (2006) 2.05

Fibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and function. J Am Soc Nephrol (2008) 2.04

Genotype-phenotype associations for common CYP3A4 and CYP3A5 variants in the basal and induced metabolism of midazolam in European- and African-American men and women. Pharmacogenetics (2003) 2.03

Long QT syndrome-associated mutations in intrauterine fetal death. JAMA (2013) 2.00

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes. Europace (2013) 1.97

Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing. J Am Coll Cardiol (2012) 1.97

Real-life observations of clinical outcomes with rhythm- and rate-control therapies for atrial fibrillation RECORDAF (Registry on Cardiac Rhythm Disorders Assessing the Control of Atrial Fibrillation). J Am Coll Cardiol (2011) 1.91

Neural control of heart rate is an arrhythmia risk modifier in long QT syndrome. J Am Coll Cardiol (2008) 1.91

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. J Cardiovasc Electrophysiol (2003) 1.91

VEGF-B is dispensable for blood vessel growth but critical for their survival, and VEGF-B targeting inhibits pathological angiogenesis. Proc Natl Acad Sci U S A (2009) 1.91

Cardiac ion channels. Annu Rev Physiol (2002) 1.90

Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm (2010) 1.89

Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Nat Genet (2013) 1.86

Exercise-induced increase in baroreflex sensitivity predicts improved prognosis after myocardial infarction. Circulation (2002) 1.84

Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol (2012) 1.81

Clinical implications for patients with long QT syndrome who experience a cardiac event during infancy. J Am Coll Cardiol (2009) 1.81

Myotonia congenita. Adv Genet (2008) 1.80

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A. J Neurosci (2003) 1.77

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation (2005) 1.77

Long-QT syndrome after age 40. Circulation (2008) 1.73

Long QT syndrome and pregnancy. J Am Coll Cardiol (2007) 1.71

Hypoxic induction of endoglin via mitogen-activated protein kinases in mouse brain microvascular endothelial cells. Stroke (2003) 1.70

Expression of multiple KCNE genes in human heart may enable variable modulation of I(Ks). J Mol Cell Cardiol (2005) 1.70

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome. J Clin Invest (2008) 1.69

Transgenic ablation of doublecortin-expressing cells suppresses adult neurogenesis and worsens stroke outcome in mice. Proc Natl Acad Sci U S A (2010) 1.69

Polymorphic ventricular tachycardia and KCNJ2 mutations. Heart Rhythm (2004) 1.68

Clinical, genetic, and biophysical characterization of SCN5A mutations associated with atrioventricular conduction block. Circulation (2002) 1.65

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy. Proc Natl Acad Sci U S A (2004) 1.65

Risk of death in the long QT syndrome when a sibling has died. Heart Rhythm (2008) 1.64

Stem cell factor stimulates neurogenesis in vitro and in vivo. J Clin Invest (2002) 1.63

Non-replication of association studies: "pseudo-failures" to replicate? Genet Med (2007) 1.62

Excessive heart rate increase during mild mental stress in preparation for exercise predicts sudden death in the general population. Eur Heart J (2009) 1.61

Prediction of unexpected sudden death among healthy dogs by a novel marker of autonomic neural activity. Heart Rhythm (2007) 1.60

KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet (2002) 1.60

Common and unique susceptibility loci in Graves and Hashimoto diseases: results of whole-genome screening in a data set of 102 multiplex families. Am J Hum Genet (2003) 1.59

A KCNH2 branch point mutation causing aberrant splicing contributes to an explanation of genotype-negative long QT syndrome. Heart Rhythm (2008) 1.59

Risk factors for recurrent syncope and subsequent fatal or near-fatal events in children and adolescents with long QT syndrome. J Am Coll Cardiol (2011) 1.59

The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification. Circulation (2007) 1.58