Literature DB >> 21907427

A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward).

John J Ryan, Matthew Kalscheur, Lisa Dellefave, Elizabeth McNally, Stephen L Archer.   

Abstract

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Year:  2011        PMID： 21907427      PMCID： PMC3253314          DOI： 10.1016/j.ijcard.2011.08.022

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


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  7 in total

1.  A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype.

Authors:  E Schulze-Bahr; M Schwarz; S Hauenschild; H Wedekind; H Funke; W Haverkamp; G Breithardt; O Pongs; D Isbrandt; S Hoffman
Journal:  J Mol Med (Berl)       Date:  2001-09       Impact factor: 4.599

2.  S38G single-nucleotide polymorphism at the KCNE1 locus is associated with heart failure.

Authors:  Cinzia Fatini; Elena Sticchi; Rossella Marcucci; Valerio Verdiani; Carlo Nozzoli; Cristina Vassallo; Michele Emdin; Rosanna Abbate; Gian Franco Gensini
Journal:  Heart Rhythm       Date:  2009-12-02       Impact factor: 6.343

3.  Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

Authors:  I Splawski; J Shen; K W Timothy; M H Lehmann; S Priori; J L Robinson; A J Moss; P J Schwartz; J A Towbin; G M Vincent; M T Keating
Journal:  Circulation       Date:  2000-09-05       Impact factor: 29.690

4.  Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

Authors:  Jamie D Kapplinger; David J Tester; Benjamin A Salisbury; Janet L Carr; Carole Harris-Kerr; Guido D Pollevick; Arthur A M Wilde; Michael J Ackerman
Journal:  Heart Rhythm       Date:  2009-06-23       Impact factor: 6.343

Review 5.  Long QT syndrome.

Authors:  Ilan Goldenberg; Arthur J Moss
Journal:  J Am Coll Cardiol       Date:  2008-06-17       Impact factor: 24.094

6.  High efficacy of beta-blockers in long-QT syndrome type 1: contribution of noncompliance and QT-prolonging drugs to the occurrence of beta-blocker treatment "failures".

Authors:  G Michael Vincent; Peter J Schwartz; Isabelle Denjoy; Heikki Swan; Candice Bithell; Carla Spazzolini; Lia Crotti; Kirsi Piippo; Jean-Marc Lupoglazoff; Elizabeth Villain; Silvia G Priori; Carlo Napolitano; Li Zhang
Journal:  Circulation       Date:  2008-12-31       Impact factor: 29.690

7.  An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Authors:  Philipp G Sand; Alexander Luettich; Tobias Kleinjung; Goeran Hajak; Berthold Langguth
Journal:  Genes (Basel)       Date:  2010-04-28       Impact factor: 4.096
  7 in total
  2 in total

1.  Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Authors:  Rabia Faridi; Risa Tona; Alessandra Brofferio; Michael Hoa; Rafal Olszewski; Isabelle Schrauwen; Muhammad Z K Assir; Akhtar A Bandesha; Asma A Khan; Atteeq U Rehman; Carmen Brewer; Wasim Ahmed; Suzanne M Leal; Sheikh Riazuddin; Steven E Boyden; Thomas B Friedman
Journal:  Hum Mutat       Date:  2018-12-12       Impact factor: 4.878

Review 2.  Molecular Pathophysiology of Congenital Long QT Syndrome.

Authors:  M S Bohnen; G Peng; S H Robey; C Terrenoire; V Iyer; K J Sampson; R S Kass
Journal:  Physiol Rev       Date:  2017-01       Impact factor: 37.312
  2 in total

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