Literature DB >> 32748945

Familial dilated cardiomyopathy associated with a novel heterozygous RYR2 early truncating variant.

Sarah Costa1, Argelia Medeiros-Domingo2, Alessio Gasperetti1, Alexander Breitenstein1, Jan Steffel1, Federica Guidetti1, Andreas Flammer1, Katja Odening3, Frank Ruschitzka1, Firat Duru1,4, Ardan M Saguner5.   

Abstract

Entities:  

Year:  2020        PMID： 32748945      PMCID： PMC8105062          DOI： 10.5603/CJ.a2020.0099

Source DB:  PubMed          Journal:  Cardiol J        ISSN： 1898-018X            Impact factor:   2.737


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  10 in total

1.  Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies.

Authors:  Yijun Tang; Xixi Tian; Ruiwu Wang; Michael Fill; S R Wayne Chen
Journal:  Circ Res       Date:  2012-02-28       Impact factor: 17.367

Review 2.  Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.

Authors:  Elizabeth M McNally; Luisa Mestroni
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

Review 3.  Classification, Epidemiology, and Global Burden of Cardiomyopathies.

Authors:  William J McKenna; Barry J Maron; Gaetano Thiene
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

4.  Exon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction.

Authors:  Seiko Ohno; Masato Omura; Mihoko Kawamura; Hiromi Kimura; Hideki Itoh; Takeru Makiyama; Hiroya Ushinohama; Naomasa Makita; Minoru Horie
Journal:  Europace       Date:  2014-01-06       Impact factor: 5.214

5.  The incidence of pediatric cardiomyopathy in two regions of the United States.

Authors:  Steven E Lipshultz; Lynn A Sleeper; Jeffrey A Towbin; April M Lowe; E John Orav; Gerald F Cox; Paul R Lurie; Kristina L McCoy; Melissa A McDonald; Jane E Messere; Steven D Colan
Journal:  N Engl J Med       Date:  2003-04-24       Impact factor: 91.245

6.  Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.

Authors:  Zahurul A Bhuiyan; Maarten P van den Berg; J Peter van Tintelen; Margreet T E Bink-Boelkens; Ans C P Wiesfeld; Marielle Alders; Alex V Postma; Irene van Langen; Marcel M A M Mannens; Arthur A M Wilde
Journal:  Circulation       Date:  2007-09-17       Impact factor: 29.690

7.  Hypersensitivity of excitation-contraction coupling in dystrophic cardiomyocytes.

Authors:  Nina D Ullrich; Mohammed Fanchaouy; Konstantin Gusev; Natalia Shirokova; Ernst Niggli
Journal:  Am J Physiol Heart Circ Physiol       Date:  2009-09-25       Impact factor: 4.733

8.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

Review 9.  The structural basis of ryanodine receptor ion channel function.

Authors:  Gerhard Meissner
Journal:  J Gen Physiol       Date:  2017-11-09       Impact factor: 4.086

10.  Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor.

Authors:  Marina Cerrone; Barbara Colombi; Massimo Santoro; Marina Raffaele di Barletta; Mario Scelsi; Laura Villani; Carlo Napolitano; Silvia G Priori
Journal:  Circ Res       Date:  2005-05-12       Impact factor: 17.367
  10 in total
  4 in total

Review 1.  Understanding the molecular basis of cardiomyopathy.

Authors:  Marie-Louise Bang; Julius Bogomolovas; Ju Chen
Journal:  Am J Physiol Heart Circ Physiol       Date:  2021-11-19       Impact factor: 5.125

2.  RyR2 Gain-of-Function and Not So Sudden Cardiac Death.

Authors:  Shanna Hamilton; Dmitry Terentyev
Journal:  Circ Res       Date:  2021-07-22       Impact factor: 23.213

Review 3.  Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

Authors:  Ewan Douglas Fowler; Spyros Zissimopoulos
Journal:  Biomolecules       Date:  2022-07-26

Review 4.  State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

Authors:  Viraj Patel; Babken Asatryan; Bhurint Siripanthong; Patricia B Munroe; Anjali Tiku-Owens; Luis R Lopes; Mohammed Y Khanji; Alexandros Protonotarios; Pasquale Santangeli; Daniele Muser; Francis E Marchlinski; Peter A Brady; C Anwar A Chahal
Journal:  Int J Mol Sci       Date:  2020-09-10       Impact factor: 5.923
  4 in total

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