Potassium voltage-gated channel subfamily KQT member 1

Piippo K et al. (2001) A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

Mancini-DiNardo D et al. (2003) A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

Chen YH et al. (2003) KCNQ1 gain-of-function mutation in familial atrial fibrillation.

Fitzpatrick GV et al. (2002) Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1.

Murray A et al. (2002) Mutation in KCNQ1 that has both recessive and dominant characteristics.

Marx SO et al. (2002) Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.

Schwartz PJ et al. (2001) Molecular diagnosis in a child with sudden infant death syndrome.

Cleary MA et al. (2001) Disruption of an imprinted gene cluster by a targeted chromosomal translocation in mice.

Casimiro MC et al. (2001) Targeted disruption of the Kcnq1 gene produces a mouse model of Jervell and Lange-Nielsen Syndrome.

Silva J et al. (2003) Establishment of histone h3 methylation on the inactive X chromosome requires transient recruitment of Eed-Enx1 polycomb group complexes.

Tyson J et al. (2000) Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

Engel JR et al. (2000) Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Schmitt N et al. (2000) A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.

Ackerman MJ et al. (1999) Molecular diagnosis of the inherited long-QT syndrome in a woman who died after near-drowning.

Larsen LA et al. (1999) Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

Murray A et al. (1999) Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Smilinich NJ et al. (1999) A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome.

Lee MP et al. (1999) Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting.

Vallon V et al. (2005) KCNQ1-dependent transport in renal and gastrointestinal epithelia.

Hasegawa K et al. (2014) A novel KCNQ1 missense mutation identified in a patient with juvenile-onset atrial fibrillation causes constitutively open IKs channels.

Guerrier K et al. (2013) Long QT genetics manifesting as atrial fibrillation.

Bartos DC et al. (2013) A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.

Moretti A et al. (2010) Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

Roepke TK et al. (2009) Kcne2 deletion uncovers its crucial role in thyroid hormone biosynthesis.

Das S et al. (2009) Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Ocorr K et al. (2007) KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.

Suh BC et al. (2006) Rapid chemically induced changes of PtdIns(4,5)P2 gate KCNQ ion channels.

Berthet M et al. (1999) C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

Umlauf D et al. (2004) Imprinting along the Kcnq1 domain on mouse chromosome 7 involves repressive histone methylation and recruitment of Polycomb group complexes.

Lewis A et al. (2004) Imprinting on distal chromosome 7 in the placenta involves repressive histone methylation independent of DNA methylation.

Casimiro MC et al. (2004) Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.

Elso CM et al. (2004) Heightened susceptibility to chronic gastritis, hyperplasia and metaplasia in Kcnq1 mutant mice.

Aizawa Y et al. (2004) Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.

Melman YF et al. (2004) KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity.

Wedekind H et al. (2004) Effective long-term control of cardiac events with beta-blockers in a family with a common LQT1 mutation.

Chen S et al. (2003) KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Splawski I et al. (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

Imboden M et al. (2006) Female predominance and transmission distortion in the long-QT syndrome.

Napolitano C et al. (2005) Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management part III.

Priori SG et al. (1999) Genetic and molecular basis of cardiac arrhythmias: impact on clinical management parts I and II.

Ackerman MJ et al. (1998) A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

Priori SG et al. (1998) A recessive variant of the Romano-Ward long-QT syndrome?

Russell MW et al. (1996) KVLQT1 mutations in three families with familial or sporadic long QT syndrome.

Wang Q et al. (1996) Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Neyroud N et al. (1999) Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

Tanaka T et al. (1997) Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

Millat G et al. (2006) Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Tester DJ et al. (2005) Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

Westenskow P et al. (2004) Compound mutations: a common cause of severe long-QT syndrome.

Yang P et al. (2002) Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes.

Splawski I et al. (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Jongbloed RJ et al. (1999) Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

Zareba W et al. (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

Arbour L et al. (2008) A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

Chen Q et al. (1999) Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

Neyroud N et al. () Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

Kanters JK et al. (1998) Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.

Li H et al. (1998) New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

Donger C et al. (1997) KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

Shalaby FY et al. (1997) Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

Ackerman MJ et al. (1997) Ion channels--basic science and clinical disease.

Splawski I et al. (1997) Molecular basis of the long-QT syndrome associated with deafness.

Yang WP et al. (1997) KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias.

Neyroud N et al. (1997) A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome.

Lee MP et al. (1997) Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

Mannens M et al. (1997) KVLQT1, the rhythm of imprinting.

Sanguinetti MC et al. (1996) Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel.

Barhanin J et al. (1996) K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current.

Reardon W et al. (1993) Consanguinity, cardiac arrest, hearing impairment, and ECG abnormalities: counselling pitfalls in the Romano-Ward syndrome.

Bellocq C et al. (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

Johnson JN et al. (2008) Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.

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