review article | Q7318358 |
scholarly article | Q13442814 |
P356 | DOI | 10.1016/J.YMGME.2010.05.011 |
P698 | PubMed publication ID | 20594883 |
P50 | author | Kim M Summers | Q55204010 |
Nilesh J Bokil | Q56994742 | ||
P2093 | author name string | Dorothy J Radford | |
John M Baisden | |||
P2860 | cites work | Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel | Q24292184 |
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death | Q24294267 | ||
A cardiac arrhythmia syndrome caused by loss of ankyrin-B function | Q24295030 | ||
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3 | Q24295202 | ||
Mutation of an A-kinase-anchoring protein causes long-QT syndrome | Q24304235 | ||
Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex | Q24308697 | ||
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome | Q24308735 | ||
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias | Q24311437 | ||
Elongation of the Kcnq1ot1 transcript is required for genomic imprinting of neighboring genes | Q24546155 | ||
A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome | Q24644175 | ||
Gene-specific vulnerability to imprinting variability in human embryonic stem cell lines | Q24684653 | ||
Gene structures and expression profiles of three human KCND (Kv4) potassium channels mediating A-type currents I(TO) and I(SA) | Q28139457 | ||
Genomic organisation and chromosomal localisation of two members of the KCND ion channel family, KCND2 and KCND3 | Q28143532 | ||
A defect in the Kv channel-interacting protein 2 (KChIP2) gene leads to a complete loss of I(to) and confers susceptibility to ventricular tachycardia | Q28211696 | ||
Cardiac sodium channel Na(v)1.5 and interacting proteins: Physiology and pathophysiology | Q28258096 | ||
International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels | Q28289125 | ||
International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels | Q28289138 | ||
International Union of Pharmacology. LIII. Nomenclature and molecular relationships of voltage-gated potassium channels | Q28289179 | ||
Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels | Q28300861 | ||
A global in vivo Drosophila RNAi screen identifies NOT3 as a conserved regulator of heart function. | Q30494112 | ||
Risk stratification in the long-QT syndrome. | Q33148941 | ||
Mouse models of long QT syndrome | Q33154363 | ||
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene | Q33155088 | ||
The Long QT Syndrome | Q33155336 | ||
Clinical practice. Long-QT syndrome | Q33155879 | ||
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome. | Q33157910 | ||
Mutation-specific risk in two genetic forms of type 3 long QT syndrome | Q33158299 | ||
The long Q-T syndrome | Q33162456 | ||
The long QT syndrome: a prospective international study | Q33168684 | ||
Mechanisms of disease pathogenesis in long QT syndrome type 5 | Q33655582 | ||
Hsp40 chaperones promote degradation of the HERG potassium channel | Q33661427 | ||
Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death | Q34241382 | ||
Common variants at ten loci modulate the QT interval duration in the QTSCD Study | Q34289629 | ||
Prolonged QTc interval and risks of total and cardiovascular mortality and sudden death in the general population: a review and qualitative overview of the prospective cohort studies | Q34319905 | ||
Diagnostic criteria for the long QT syndrome. An update | Q34351752 | ||
25th anniversary of the International Long-QT Syndrome Registry: an ongoing quest to uncover the secrets of long-QT syndrome | Q34400921 | ||
Imprinting disruption of the CDKN1C/KCNQ1OT1 domain: the molecular mechanisms causing Beckwith-Wiedemann syndrome and cancer. | Q34507207 | ||
Specific therapy based on the genotype and cellular mechanism in inherited cardiac arrhythmias. Long QT syndrome and Brugada syndrome | Q34667054 | ||
Cardiac ankyrins in health and disease | Q34977809 | ||
Ion channels: function unravelled by dysfunction | Q35934207 | ||
Genetic testing for cardiac channelopathies: ten questions regarding clinical considerations for heart rhythm allied professionals | Q36142684 | ||
The congenital long QT syndromes from genotype to phenotype: clinical implications | Q36335249 | ||
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 mutation | Q36999467 | ||
Common variants at ten loci influence QT interval duration in the QTGEN Study | Q37240241 | ||
Delayed rectifier K(+) currents and cardiac repolarization. | Q37580457 | ||
Short QT syndrome: a review | Q37614905 | ||
Sex differences in arrhythmias | Q37639115 | ||
Family and population strategies for screening and counselling of inherited cardiac arrhythmias | Q40506438 | ||
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome | Q43074306 | ||
Utility of treadmill testing in identification and genotype prediction in long-QT syndrome | Q43195163 | ||
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 syndrome | Q47857406 | ||
A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer | Q48262708 | ||
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 families | Q55989774 | ||
Mutations atKCNQ1and an unknown locus cause long QT syndrome in a large Australian family: Implications for genetic testing | Q57391673 | ||
How Really Rare Are Rare Diseases?: | Q58010872 | ||
Sex differences in phenotypic manifestation and gene transmission in the Romano-Ward syndrome | Q58011347 | ||
The Elusive Link Between LQT3 and Brugada Syndrome | Q61850490 | ||
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 syndrome | Q64048552 | ||
Thalassaemia intermedia in Cyprus: the interaction of alpha and beta thalassaemia | Q67264041 | ||
ECG T-Wave Patterns in Genetically Distinct Forms of the Hereditary Long QT Syndrome | Q71807499 | ||
Exercise stress test amplifies genotype-phenotype correlation in the LQT1 and LQT2 forms of the long-QT syndrome | Q73013963 | ||
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes | Q73265460 | ||
Taking the "idio" out of "idiosyncratic": predicting torsades de pointes | Q74595554 | ||
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients | Q75404578 | ||
CONGENITAL CARDIAC ARRHYTHMIA | Q77205305 | ||
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 dysfunction | Q81492019 | ||
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing | Q81666361 | ||
P433 | issue | 1 | |
P921 | main subject | molecular genetics | Q210506 |
long QT syndrome | Q653924 | ||
P304 | page(s) | 1-8 | |
P577 | publication date | 2010-06-09 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Molecular genetics of long QT syndrome | |
P478 | volume | 101 |
Q39649796 | A left ventricular noncompaction in a patient with long QT syndrome caused by a KCNQ1 mutation: a case report |
Q38040330 | Advances in targeting voltage-gated sodium channels with small molecules |
Q37711518 | Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes |
Q33166794 | Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy |
Q33164771 | Calcium transients closely reflect prolonged action potentials in iPSC models of inherited cardiac arrhythmia |
Q26864726 | Channelopathy pathogenesis in autism spectrum disorders |
Q38034129 | Current status of drug screening and disease modelling in human pluripotent stem cells. |
Q37437839 | Detailed analysis of the impact of age on the QT interval |
Q85047902 | Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome |
Q33162328 | Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome |
Q34793218 | Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation |
Q35586511 | Enhancer-driven chromatin interactions during development promote escape from silencing by a long non-coding RNA. |
Q38408408 | Epigenetics of the failing heart |
Q35165143 | Estrogen-related receptor α (ERRα) and ERRγ are essential coordinators of cardiac metabolism and function |
Q33161944 | Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing |
Q37267318 | Genetics and epigenetics of arrhythmia and heart failure |
Q41231682 | Human pluripotent stem cell-derived cardiomyocytes as research and therapeutic tools. |
Q26825254 | Hypoxia at the heart of sudden infant death syndrome? |
Q33160170 | Impaired cardiac sympathetic innervation in symptomatic patients with long QT syndrome |
Q38013733 | In vitro uses of human pluripotent stem cell-derived cardiomyocytes. |
Q34920627 | Long QT interval in Turner syndrome--a high prevalence of LQTS gene mutations |
Q54358787 | Long QT syndrome mutation detection by SNaPshot technique. |
Q33163411 | Long QT syndrome: a Korean single center study. |
Q38412337 | Long noncoding RNAs in cardiac development and ageing |
Q38254729 | Misinterpretation of the mouse ECG: 'musing the waves of Mus musculus'. |
Q58777181 | Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia |
Q26852494 | Nomenclature, categorization and usage of formulae to adjust QT interval for heart rate |
Q38850158 | Non-coding RNAs in muscle differentiation and musculoskeletal disease. |
Q35871946 | Polygenic Case of Long QT Syndrome Confirmed through Functional Characterization Informs the Interpretation of Genetic Screening Results |
Q50078775 | QTc prolongation in short-term treatment of schizophrenia patients: effects of different antipsychotics and genetic factors |
Q21144904 | The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart |
Q26852614 | The emerging role of epigenetics in cardiovascular disease |
Q26799744 | The multi-faceted aspects of the complex cardiac Nav1.5 protein in membrane function and pathophysiology |
Q33605862 | Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions. |
Q55317406 | Value of the New Spline QTc Formula in Adjusting for Pacing-Induced Changes in Heart Rate. |
Search more.