Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction-Reference-Cited by-同舟云学术

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction

Published:2015-12-16 Issue:8 Volume:24 Page:1160-1166
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Itoh Hideki,Berthet Myriam,Fressart Véronique,Denjoy Isabelle,Maugenre Svetlana,Klug Didier,Mizusawa Yuka,Makiyama Takeru,Hofman Nynke,Stallmeyer Birgit,Zumhagen Sven,Shimizu Wataru,Wilde Arthur A M,Schulze-Bahr Eric,Horie Minoru,Tezenas du Montcel Sophie^ORCID,Guicheney Pascale

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015257.pdf

Reference37 articles.

1. Cerrone M, Priori SG : Genetics of sudden death: focus on inherited channelopathies. Eur Heart J 2011; 32: 2109–2118.

2. Imboden M, Swan H, Denjoy I et al: Female predominance and transmission distortion in the long-QT syndrome. N Engl J Med 2006; 355: 2744–2751.

3. Naumova AK, Greenwood CM, Morgan K : Imprinting and deviation from Mendelian transmission ratios. Genome 2001; 44: 311–320.

4. Naumova AK : Long-QT syndrome. N Engl J Med 2007; 356: 1680, author reply 1680.

5. Kunz L, Roggors C, Mayerhofer A : Ovarian acetylcholine and ovarian KCNQ channels: insights into cellular regulatory systems of steroidogenic granulosa cells. Life Sci 2007; 80: 2195–2198.

Cited by 22 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. Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants;Heart Rhythm;2024-07

2. Bypassing Mendel’s First Law: Transmission Ratio Distortion in Mammals;International Journal of Molecular Sciences;2023-01-13

3. The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease;Frontiers in Cardiovascular Medicine;2022-06-15

4. A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity;Clinical and Translational Medicine;2021-11

5. Disease variant prediction with deep generative models of evolutionary data;Nature;2021-10-27