Literature DB >> 34546788

Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations: Clinical Phenotypes and In Vitro Characterization.

Yanhui Li1,2, Jinhong Wei1, Wenting Guo1, Bo Sun1,3, John Paul Estillore1, Ruiwu Wang1, Ayhan Yoruk4, Thomas M Roston5, Shubhayan Sanatani6, Arthur A M Wilde7,8, Michael H Gollob9,10, Jason D Roberts11, Zian H Tseng4, Henrik K Jensen12, S R Wayne Chen1.   

Abstract

[Figure: see text].

Entities:  

Keywords:  caffeine; death; mutation; phenotype; ryanodine

Mesh：

Substances：

Year:  2021        PMID： 34546788     DOI： 10.1161/CIRCEP.121.010013

Source DB:  PubMed          Journal:  Circ Arrhythm Electrophysiol        ISSN： 1941-3084


  6 in total

Review 1.  The function and regulation of calsequestrin-2: implications in calcium-mediated arrhythmias.

Authors:  Elliot T Sibbles; Helen M M Waddell; Valeria Mereacre; Peter P Jones; Michelle L Munro
Journal:  Biophys Rev       Date:  2022-01-07

2.  European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Authors:  Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Back Sternick Eduardo; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong-Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti Mac Intyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Pablo Ochoa Juan; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke
Journal:  J Arrhythm       Date:  2022-05-31

3.  European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Authors:  Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Eduardo Back Sternick; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti MacIntyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Juan Pablo Ochoa; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke
Journal:  Europace       Date:  2022-09-01       Impact factor: 5.486

Review 4.  Therapeutic Approaches of Ryanodine Receptor-Associated Heart Diseases.

Authors:  Norbert Szentandrássy; Zsuzsanna É Magyar; Judit Hevesi; Tamás Bányász; Péter P Nánási; János Almássy
Journal:  Int J Mol Sci       Date:  2022-04-18       Impact factor: 6.208

Review 5.  Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

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

Review 6.  Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Authors:  Estefanía Martínez-Barrios; Sergi Cesar; José Cruzalegui; Clara Hernandez; Elena Arbelo; Victoria Fiol; Josep Brugada; Ramon Brugada; Oscar Campuzano; Georgia Sarquella-Brugada
Journal:  Biomedicines       Date:  2022-01-05
  6 in total

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