Literature DB >> 33191761

A Novel Gain-of-function Variant in CACNA1C Associated with Timothy Syndrome, Multiple Accessory Pathways and Non-compaction Cardiomyopathy.

Ken Kelu Bisabu1, Juan Zhao2, Alla-Eddine Mokrane3, Emilie Segura4, Mireille Marsolais2, Steffany Grondin1, Evelyne Naas5, Johannie Gagnon5, Julia Cadrin-Tourigny1, Martin Aguilar3, François-Pierre Mongeon1, Mario Talajic1, Lucie Parent4, Rafik Tadros6.   

Abstract

Entities:  

Keywords:  CACNA1C; Timothy syndrome

Year:  2020        PMID： 33191761     DOI： 10.1161/CIRCGEN.120.003123

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


× No keyword cloud information.
  4 in total

Review 1.  Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Authors:  Lulan Chen; Yue He; Xiangdong Wang; Junbo Ge; Hua Li
Journal:  Clin Transl Med       Date:  2021-10

Review 2.  Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?

Authors:  Valentina Lodato; Giovanni Parlapiano; Federica Calì; Massimo Stefano Silvetti; Rachele Adorisio; Michela Armando; May El Hachem; Antonino Romanzo; Carlo Dionisi-Vici; Maria Cristina Digilio; Antonio Novelli; Fabrizio Drago; Massimiliano Raponi; Anwar Baban
Journal:  J Cardiovasc Dev Dis       Date:  2022-01-31

3.  Novel CACNA1C R511Q mutation, located in domain Ⅰ-Ⅱ linker, causes non-syndromic type-8 long QT syndrome.

Authors:  Tadashi Nakajima; Reika Kawabata-Iwakawa; Shuntaro Tamura; Hiroshi Hasegawa; Takashi Kobari; Hideki Itoh; Minoru Horie; Masahiko Nishiyama; Masahiko Kurabayashi; Yoshiaki Kaneko; Hideki Ishii
Journal:  PLoS One       Date:  2022-07-21       Impact factor: 3.752

Review 4.  Update on the Molecular Genetics of Timothy Syndrome.

Authors:  Rosemary Bauer; Katherine W Timothy; Andy Golden
Journal:  Front Pediatr       Date:  2021-05-17       Impact factor: 3.418
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.