Molecular genetics of long QT syndrome

scientific article published on 09 June 2010

Molecular genetics of long QT syndrome is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

External links are
P356DOI10.1016/J.YMGME.2010.05.011
P698PubMed publication ID20594883

P50authorKim M SummersQ55204010
Nilesh J BokilQ56994742
P2093author name stringDorothy J Radford
John M Baisden
P2860cites workRequirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channelQ24292184
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Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complexQ24308697
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Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndromeQ34667054
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Ion channels: function unravelled by dysfunctionQ35934207
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Common variants at ten loci influence QT interval duration in the QTGEN StudyQ37240241
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Sex differences in arrhythmiasQ37639115
Family and population strategies for screening and counselling of inherited cardiac arrhythmiasQ40506438
The use of genotype-phenotype correlations in mutation analysis for the long QT syndromeQ43074306
Utility of treadmill testing in identification and genotype prediction in long-QT syndromeQ43195163
Yield of genetic screening in inherited cardiac channelopathies: how to prioritize access to genetic testing.Q43266239
Compound mutations: a common cause of severe long-QT syndromeQ47857406
A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencerQ48262708
Effects of flecainide in patients with new SCN5A mutation: mutation-specific therapy for long-QT syndrome?Q51407802
D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.Q51618675
Genetics of cardiac repolarization.Q51741092
Female predominance and transmission distortion in the long-QT syndrome.Q51772420
Closer look at genetic testing in long-QT syndrome: will DNA diagnostics ever be enough?Q51782584
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.Q51955831
An intronic mutation causes long QT syndrome.Q51989761
Imprinting of mouse Kvlqt1 is developmentally regulated.Q52188959
Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.Q52196602
Long QT syndrome.Q53213950
Guidelines for the diagnosis and management of familial long QT syndrome.Q53581823
Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin.Q54591285
Novel KCNQ1 and HERG missense mutations in Dutch long-QT familiesQ55989774
Mutations atKCNQ1and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testingQ57391673
How Really Rare Are Rare Diseases?:Q58010872
Sex differences in phenotypic manifestation and gene transmission in the Romano-Ward syndromeQ58011347
The Elusive Link Between LQT3 and Brugada SyndromeQ61850490
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?Q63359123
How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndromeQ64048552
Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemiaQ67264041
ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT SyndromeQ71807499
Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndromeQ73013963
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypesQ73265460
Taking the "idio" out of "idiosyncratic": predicting torsades de pointesQ74595554
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patientsQ75404578
CONGENITAL CARDIAC ARRHYTHMIAQ77205305
Diagnostic criteria for congenital long QT syndrome in the era of molecular genetics: do we need a scoring system?Q80274843
Targeted deletion of Kv4.2 eliminates I(to,f) and results in electrical and molecular remodeling, with no evidence of ventricular hypertrophy or myocardial dysfunctionQ81492019
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testingQ81666361
P433issue1
P921main subjectmolecular geneticsQ210506
long QT syndromeQ653924
P304page(s)1-8
P577publication date2010-06-09
P1433published inMolecular Genetics and MetabolismQ6895949
P1476titleMolecular genetics of long QT syndrome
P478volume101

Reverse relations

cites work (P2860)
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