Penetrance and expressivity of the R858HCACNA1Cvariant in a five-generation pedigree segregating an arrhythmogenic channelopathy-Reference-Cited by-同舟云学术

Penetrance and expressivity of the R858HCACNA1Cvariant in a five-generation pedigree segregating an arrhythmogenic channelopathy

Published:2018-10-21 Issue:1 Volume:7 Page:e00476
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Gardner R. J. McKinlay¹²³^ORCID,Crozier Ian G.¹⁴,Binfield Alex L.¹⁵⁶^ORCID,Love Donald R.¹⁷^ORCID,Lehnert Klaus¹⁸^ORCID,Gibson Kate¹²^ORCID,Lintott Caroline J.¹²,Snell Russell G.¹⁸^ORCID,Jacobsen Jessie C.¹⁸,Jones Peter P.¹⁹^ORCID,Waddell-Smith Kathryn E.¹¹⁰,Kennedy Martin A.¹¹^ORCID,Skinner Jonathan R.¹¹⁰^ORCID

Affiliation:

1. Cardiac Inherited Disease Group; Auckland New Zealand

2. Genetic Health Service New Zealand (South Island Hub); Christchurch Hospital; Christchurch New Zealand

3. Clinical Genetics Group, Department of Women's and Children's Health; University of Otago; Dunedin New Zealand

4. Department of Cardiology; Christchurch Hospital; Christchurch New Zealand

5. Department of Paediatrics; Christchurch Hospital; Christchurch New Zealand

6. Department of Paediatrics; University of Otago; Christchurch New Zealand

7. LabPlus; Auckland City Hospital; Auckland New Zealand

8. School of Biological Sciences; University of Auckland; Auckland New Zealand

9. Department of Physiology and HeartOtago; University of Otago; Dunedin New Zealand

10. Department of Cardiology; Auckland City Hospital; Auckland New Zealand

11. Department of Pathology and Biomedical Science; University of Otago; Christchurch New Zealand

Funder

Green Lane Research and Educational Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.476/fullpdf

Reference46 articles.

1. Effectiveness of beta-blockers depending on the genotype of congenital long-QT syndrome: A meta-analysis;Ahn;Public Library of Science One,2017

2. Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death;Antzelevitch;Circulation,2007

3. Computational cardiac modeling reveals mechanisms of ventricular arrhythmogenesis in long QT syndrome type 8: CACNA1C R858H mutation linked to ventricular fibrillation;Bai;Frontiers of Physiology,2017

4. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing;Baurand;American Journal of Medical Genetics,2017

5. Calcium channel mutations in cardiac arrhythmia syndromes;Betzenhauser;Current Molecular Pharmacology,2015

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Same Gene, Different Story (a Case Report of Congenital Long QT Syndrome Subtype 8 With a Novel Mutation);The American Journal of Cardiology;2023-08

2. L-Type Ca2+ Channels and Cardiac Arrhythmias;Heart Rate and Rhythm;2023

3. Targeted deep sequencing analyses of long QT syndrome in a Japanese population;PLOS ONE;2022-12-08

4. Geno- and phenotypic characteristics and clinical outcomes of CACNA1C gene mutation associated Timothy syndrome, “cardiac only” Timothy syndrome and isolated long QT syndrome 8: A systematic review;Frontiers in Cardiovascular Medicine;2022-11-29

5. An interactive analysis of the mouse oviductal miRNA profiles;Frontiers in Cell and Developmental Biology;2022-10-19