Literature DB >> 22450718

Genetics of ion-channel disorders.

Marina Cerrone1, Carlo Napolitano, Silvia G Priori.   

Abstract

PURPOSE OF REVIEW: In this article, we summarize the main features of the most common inherited channelopathies, focusing on the findings that advanced the field in the last few years. RECENT
FINDINGS: The progress in genetics prompted the discovery of several new genes associated with ion-channel disorders, elucidating new molecular pathways and new arrhythmogenic mechanisms. The diffusion and availability of genetic screening gave a new relevance to the application of genetics not only for diagnosis, but also for risk assessment and therapeutic decisions. As a consequence, the present challenge in the field is represented by the need to use genetic data to develop personalized clinical approaches.
SUMMARY: Over a few years, the field of inherited arrhythmogenic diseases has rapidly expanded, thus reshaping clinical management for these conditions. It is now clear that to handle these patients a specialized expertise is needed, able to translate the discoveries derived from basic science studies into the clinical care of the patients.

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Year:  2012        PMID: 22450718     DOI: 10.1097/HCO.0b013e328352429d

Source DB:  PubMed          Journal:  Curr Opin Cardiol        ISSN: 0268-4705            Impact factor:   2.161


  16 in total

Review 1.  Ion channel macromolecular complexes in cardiomyocytes: roles in sudden cardiac death.

Authors:  Hugues Abriel; Jean-Sébastien Rougier; José Jalife
Journal:  Circ Res       Date:  2015-06-05       Impact factor: 17.367

2.  Functional characterization of CaVα2δ mutations associated with sudden cardiac death.

Authors:  Benoîte Bourdin; Behzad Shakeri; Marie-Philippe Tétreault; Rémy Sauvé; Sylvie Lesage; Lucie Parent
Journal:  J Biol Chem       Date:  2014-12-19       Impact factor: 5.157

3.  Cardiovascular science: opportunities for translating research into improved care.

Authors:  Eugene Braunwald
Journal:  J Clin Invest       Date:  2013-01-02       Impact factor: 14.808

4.  Copy number variants and the genetic enigma of congenital heart disease.

Authors:  Ali J Marian
Journal:  Circ Res       Date:  2014-10-24       Impact factor: 17.367

Review 5.  Genetics and disease of ventricular muscle.

Authors:  Diane Fatkin; Christine E Seidman; Jonathan G Seidman
Journal:  Cold Spring Harb Perspect Med       Date:  2014-01-01       Impact factor: 6.915

6.  RNA interference-based therapeutics for inherited long QT syndrome.

Authors:  Guoliang Li; Shuting Ma; Chaofeng Sun
Journal:  Exp Ther Med       Date:  2015-06-12       Impact factor: 2.447

7.  Non optical semi-conductor next generation sequencing of the main cardiac QT-interval duration genes in pooled DNA samples.

Authors:  Juan Gómez; Julian R Reguero; César Morís; Victoria Alvarez; Eliecer Coto
Journal:  J Cardiovasc Transl Res       Date:  2013-11-05       Impact factor: 4.132

8.  Essential role of the zinc finger transcription factor Casz1 for mammalian cardiac morphogenesis and development.

Authors:  Zhihui Liu; Wenling Li; Xuefei Ma; Nancy Ding; Francesco Spallotta; Eileen Southon; Lino Tessarollo; Carlo Gaetano; Yoh-Suke Mukouyama; Carol J Thiele
Journal:  J Biol Chem       Date:  2014-09-04       Impact factor: 5.157

9.  Distinct Cellular Basis for Early Cardiac Arrhythmias, the Cardinal Manifestation of Arrhythmogenic Cardiomyopathy, and the Skin Phenotype of Cardiocutaneous Syndromes.

Authors:  Jennifer Karmouch; Qiong Q Zhou; Christina Y Miyake; Raffaella Lombardi; Kai Kretzschmar; Marie Bannier-Hélaouët; Hans Clevers; Xander H T Wehrens; James T Willerson; Ali J Marian
Journal:  Circ Res       Date:  2017-10-10       Impact factor: 17.367

10.  Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.

Authors:  Marina Cerrone; Xianming Lin; Mingliang Zhang; Esperanza Agullo-Pascual; Anna Pfenniger; Halina Chkourko Gusky; Valeria Novelli; Changsung Kim; Tiara Tirasawadichai; Daniel P Judge; Eli Rothenberg; Huei-Sheng Vincent Chen; Carlo Napolitano; Silvia G Priori; Mario Delmar
Journal:  Circulation       Date:  2013-12-18       Impact factor: 29.690

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