Literature DB >> 14764649

Inherited arrhythmogenic diseases: the complexity beyond monogenic disorders.

Silvia G Priori1.   

Abstract

Twelve years after the identification of the molecular bases of the long-QT syndrome, it is now possible to express some considerations on the impact that genetic findings have had in the understanding of inherited arrhythmogenic diseases. Along with the excitement for the emerging data on genotype/phenotype correlation and for the development of the first recommendations for gene-specific management of patients, it is also important to acknowledge the unexpected complexity that has emerged. The focus of this article is to analyze the elusive aspects of the relationship between genetic defects and clinical manifestations and to propose some research directions that may provide the needed answers to move forward in the understanding of the genetics of heart rhythm abnormalities.

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Year:  2004        PMID: 14764649     DOI: 10.1161/01.RES.0000115750.12807.7E

Source DB:  PubMed          Journal:  Circ Res        ISSN: 0009-7330            Impact factor:   17.367


  16 in total

1.  Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms.

Authors:  Ling-Ping Lai; Yi-Ning Su; Fu-Tien Chiang; Jyh-Ming Juang; Yen-Bin Liu; Yi-Lwun Ho; Wen-Jone Chen; San-Jou Yeh; Chun-Chieh Wang; Yu-Lin Ko; Tsu-Juey Wu; Kwo-Chang Ueng; Meng-Huan Lei; Hsuan-Ming Tsao; Shih-Ann Chen; Tin-Kwang Lin; Mei-Hwan Wu; Huey-Ming Lo; Shoei K Stephen Huang; Jiunn-Lee Lin
Journal:  J Hum Genet       Date:  2005-09-10       Impact factor: 3.172

2.  Targeting a Braf/Mapk pathway rescues podocyte lipid peroxidation in CoQ-deficiency kidney disease.

Authors:  Eriene-Heidi Sidhom; Choah Kim; Maria Kost-Alimova; May Theng Ting; Keith Keller; Julian Avila-Pacheco; Andrew Jb Watts; Katherine A Vernon; Jamie L Marshall; Estefanía Reyes-Bricio; Matthew Racette; Nicolas Wieder; Giulio Kleiner; Elizabeth J Grinkevich; Fei Chen; Astrid Weins; Clary B Clish; Jillian L Shaw; Catarina M Quinzii; Anna Greka
Journal:  J Clin Invest       Date:  2021-03-01       Impact factor: 14.808

Review 3.  Potassium-channel mutations and cardiac arrhythmias--diagnosis and therapy.

Authors:  John R Giudicessi; Michael J Ackerman
Journal:  Nat Rev Cardiol       Date:  2012-01-31       Impact factor: 32.419

4.  Molecular mechanisms of inherited arrhythmias.

Authors:  Cordula M Wolf; Charles I Berul
Journal:  Curr Genomics       Date:  2008-05       Impact factor: 2.236

5.  The genetics of cardiomyopathy: genotyping and genetic counseling.

Authors:  Steven J Fowler; Carlo Napolitano; Silvia G Priori
Journal:  Curr Treat Options Cardiovasc Med       Date:  2009-12

6.  Rate dependency of beta-adrenergic modulation of repolarizing currents in the guinea-pig ventricle.

Authors:  M Rocchetti; V Freli; V Perego; C Altomare; G Mostacciuolo; A Zaza
Journal:  J Physiol       Date:  2006-02-16       Impact factor: 5.182

Review 7.  Cardiac ankyrins in health and disease.

Authors:  Seyed M Hashemi; Thomas J Hund; Peter J Mohler
Journal:  J Mol Cell Cardiol       Date:  2009-04-24       Impact factor: 5.000

Review 8.  Sodium channel mutations and arrhythmias.

Authors:  Yanfei Ruan; Nian Liu; Silvia G Priori
Journal:  Nat Rev Cardiol       Date:  2009-05       Impact factor: 32.419

9.  KCNQ potassium channel mutations cause cardiac arrhythmias in Drosophila that mimic the effects of aging.

Authors:  Karen Ocorr; Nick L Reeves; Robert J Wessells; Martin Fink; H-S Vincent Chen; Takeshi Akasaka; Soichiro Yasuda; Joseph M Metzger; Wayne Giles; James W Posakony; Rolf Bodmer
Journal:  Proc Natl Acad Sci U S A       Date:  2007-02-28       Impact factor: 11.205

10.  Common candidate gene variants are associated with QT interval duration in the general population.

Authors:  A Marjamaa; C Newton-Cheh; K Porthan; A Reunanen; P Lahermo; H Väänänen; A Jula; H Karanko; H Swan; L Toivonen; M S Nieminen; M Viitasalo; L Peltonen; L Oikarinen; A Palotie; K Kontula; V Salomaa
Journal:  J Intern Med       Date:  2009-10-25       Impact factor: 8.989

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