Literature DB >> 21126784

A novel mutation in the cardiac ryanodine receptor gene (RyR2) in a patient with an unequivocal LQTS.

Silke Kauferstein, Nadine Kiehne, Damir Erkapic, Jörn Schmidt, Christian W Hamm, Hansjürgen Bratzke, Heinz-Friedrich Pitschner, Malte Kuniss, Thomas Neumann.   

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Year:  2010        PMID： 21126784     DOI： 10.1016/j.ijcard.2010.10.062

Source DB:  PubMed          Journal:  Int J Cardiol        ISSN： 0167-5273            Impact factor:   4.164


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  10 in total

1.  Gain of function of cardiac ryanodine receptor in a rat model of type 1 diabetes.

Authors:  Chengju Tian; Chun Hong Shao; Caronda J Moore; Shelby Kutty; Timothy Walseth; Cyrus DeSouza; Keshore R Bidasee
Journal:  Cardiovasc Res       Date:  2011-03-18       Impact factor: 10.787

2.  CRISPR/Cas9 Gene editing of RyR2 in human stem cell-derived cardiomyocytes provides a novel approach in investigating dysfunctional Ca2+ signaling.

Authors:  Hua Wei; Xiao-Hua Zhang; Cassandra Clift; Naohiro Yamaguchi; Martin Morad
Journal:  Cell Calcium       Date:  2018-04-27       Impact factor: 6.817

3.  Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene.

Authors:  Yuki Taniguchi; Aya Miyazaki; Heima Sakaguchi; Yousuke Hayama; Norihiro Ebishima; Jun Negishi; Kanae Noritake; Yoshihiro Miyamoto; Wataru Shimizu; Takeshi Aiba; Hideo Ohuchi
Journal:  Heart Vessels       Date:  2016-07-11       Impact factor: 2.037

4.  Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

Authors:  Helena Riuró; Oscar Campuzano; Paola Berne; Elena Arbelo; Anna Iglesias; Alexandra Pérez-Serra; Mònica Coll-Vidal; Sara Partemi; Irene Mademont-Soler; Ferran Picó; Catarina Allegue; Antonio Oliva; Edward Gerstenfeld; Georgia Sarquella-Brugada; Víctor Castro-Urda; Ignacio Fernández-Lozano; Lluís Mont; Josep Brugada; Fabiana S Scornik; Ramon Brugada
Journal:  Eur J Hum Genet       Date:  2014-03-26       Impact factor: 4.246

5.  Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Authors:  Daichi Shigemizu; Takeshi Aiba; Hidewaki Nakagawa; Kouichi Ozaki; Fuyuki Miya; Wataru Satake; Tatsushi Toda; Yoshihiro Miyamoto; Akihiro Fujimoto; Yutaka Suzuki; Michiaki Kubo; Tatsuhiko Tsunoda; Wataru Shimizu; Toshihiro Tanaka
Journal:  PLoS One       Date:  2015-07-01       Impact factor: 3.240

Review 6.  Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.

Authors:  Simona Magi; Vincenzo Lariccia; Marta Maiolino; Salvatore Amoroso; Santo Gratteri
Journal:  J Biomed Sci       Date:  2017-08-15       Impact factor: 8.410

Review 7.  Ion Channel Disorders and Sudden Cardiac Death.

Authors:  Anna Garcia-Elias; Begoña Benito
Journal:  Int J Mol Sci       Date:  2018-02-28       Impact factor: 5.923

Review 8.  Cardiac Channelopathies and Sudden Death: Recent Clinical and Genetic Advances.

Authors:  Anna Fernández-Falgueras; Georgia Sarquella-Brugada; Josep Brugada; Ramon Brugada; Oscar Campuzano
Journal:  Biology (Basel)       Date:  2017-01-29

9.  Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome.

Authors:  Catarina Allegue; Mònica Coll; Jesus Mates; Oscar Campuzano; Anna Iglesias; Beatriz Sobrino; Maria Brion; Jorge Amigo; Angel Carracedo; Pedro Brugada; Josep Brugada; Ramon Brugada
Journal:  PLoS One       Date:  2015-07-31       Impact factor: 3.240

10.  Application of Multigene Panel Sequencing in Patients with Prolonged Rate-corrected QT Interval and No Pathogenic Variants Detected in KCNQ1, KCNH2, and SCN5A.

Authors:  Soo Hyun Seo; So Yeon Kim; Sung Im Cho; Hyunwoong Park; Seungjun Lee; Jong Moon Choi; Man Jin Kim; Jee Soo Lee; Kyung Jin Ahn; Mi Kyoung Song; Eun Jung Bae; Sung Sup Park; Moon Woo Seong
Journal:  Ann Lab Med       Date:  2018-01       Impact factor: 3.464
  10 in total

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