Mutation of an A-kinase-anchoring protein causes long-QT syndrome
about
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complexSpectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testalpha-1-syntrophin mutation and the long-QT syndrome: a disease of sodium channel disruptionGenetics of channelopathies associated with sudden cardiac deathTargeting protein-protein interactions in complexes organized by A kinase anchoring proteinsGenetics of inherited primary arrhythmia disordersLong-QT syndrome: from genetics to managementMolecular and genetic basis of sudden cardiac deathIon Channels in the HeartSpatial control of cAMP signalling in health and diseaseDefective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathiesCompartmentalization role of A-kinase anchoring proteins (AKAPs) in mediating protein kinase A (PKA) signaling and cardiomyocyte hypertrophyAKAP13 Rho-GEF and PKD-binding domain deficient mice develop normally but have an abnormal response to β-adrenergic-induced cardiac hypertrophyMolecular pathogenesis of long QT syndrome type 1Identification of a Kir3.4 mutation in congenital long QT syndromeAKAP9 is essential for spermatogenesis and sertoli cell maturation in miceAKAP-Lbc mobilizes a cardiac hypertrophy signaling pathwayIdentification of rare DNA sequence variants in high-risk autism families and their prevalence in a large case/control populationCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.The roles of the RIIβ linker and N-terminal cyclic nucleotide-binding domain in determining the unique structures of the type IIβ protein kinase A: a small angle x-ray and neutron scattering study.Using induced pluripotent stem cells to investigate cardiac phenotypes in Timothy syndromeQTc: how long is too long?The prevalence and diagnostic/prognostic utility of sinus arrhythmia in the evaluation of congenital long QT syndromePrevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testingHolter monitoring in the evaluation of congenital long QT syndrome.Genetic testing of inherited arrhythmias.Subclinical cardiomyopathy and long QT syndrome: an echocardiographic observation.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Genetics of long QT syndrome.TRPM4 non-selective cation channel variants in long QT syndrome.Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin release following an oral glucose loadGenetics and Sinus Node Dysfunction.Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndromeSystems approach to understanding electromechanical activity in the human heart: a national heart, lung, and blood institute workshop summary.From Fifth Business to Protagonist: the complex roles of ion channel anchors in cardiac arrhythmia.Small deletion at the 7q21.2 locus in a CCM family detected by real-time quantitative PCRDefining a new paradigm for human arrhythmia syndromes: phenotypic manifestations of gene mutations in ion channel- and transporter-associated proteins.Systems pharmacology of arrhythmiasDefining new insight into atypical arrhythmia: a computational model of ankyrin-B syndrome
P2860
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P2860
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@ast
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en-gb
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@nl
type
label
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@ast
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en-gb
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@nl
prefLabel
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@ast
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en-gb
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@nl
P2093
P2860
P921
P3181
P356
P1476
Mutation of an A-kinase-anchoring protein causes long-QT syndrome
@en
P2093
David J Tester
Kevin J Sampson
Michael J Ackerman
Michelle L Marquardt
Robert S Kass
P2860
P304
P3181
P356
10.1073/PNAS.0710527105
P407
P577
2007-12-26T00:00:00Z