Literature DB >> 34542608

Does knowledge of the mutation in hereditary long QT syndrome aid risk stratification?

Andrew Tinker1.   

Abstract

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Year:  2021        PMID： 34542608      PMCID： PMC8651157          DOI： 10.1093/eurheartj/ehab668

Source DB:  PubMed          Journal:  Eur Heart J        ISSN： 0195-668X            Impact factor:   35.855


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  15 in total

1.  An mRNA surveillance mechanism that eliminates transcripts lacking termination codons.

Authors:  Pamela A Frischmeyer; Ambro van Hoof; Kathryn O'Donnell; Anthony L Guerrerio; Roy Parker; Harry C Dietz
Journal:  Science       Date:  2002-03-22       Impact factor: 47.728

2.  A recessive C-terminal Jervell and Lange-Nielsen mutation of the KCNQ1 channel impairs subunit assembly.

Authors:  N Schmitt; M Schwarz; A Peretz; I Abitbol; B Attali; O Pongs
Journal:  EMBO J       Date:  2000-02-01       Impact factor: 11.598

3.  Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

Authors:  Paul A Brink; Lia Crotti; Valerie Corfield; Althea Goosen; Glenda Durrheim; Paula Hedley; Marshall Heradien; Gerhard Geldenhuys; Emilio Vanoli; Sara Bacchini; Carla Spazzolini; Andrew L Lundquist; Dan M Roden; Alfred L George; Peter J Schwartz
Journal:  Circulation       Date:  2005-10-25       Impact factor: 29.690

4.  Compound mutations: a common cause of severe long-QT syndrome.

Authors:  Peter Westenskow; Igor Splawski; Katherine W Timothy; Mark T Keating; Michael C Sanguinetti
Journal:  Circulation       Date:  2004-03-29       Impact factor: 29.690

5.  Probing the contribution of IKs to canine ventricular repolarization: key role for beta-adrenergic receptor stimulation.

Authors:  Paul G A Volders; Milan Stengl; Jurren M van Opstal; Uwe Gerlach; Roel L H M G Spätjens; Jet D M Beekman; Karin R Sipido; Marc A Vos
Journal:  Circulation       Date:  2003-05-19       Impact factor: 29.690

Review 6.  Inherited cardiac arrhythmias.

Authors:  Peter J Schwartz; Michael J Ackerman; Charles Antzelevitch; Connie R Bezzina; Martin Borggrefe; Bettina F Cuneo; Arthur A M Wilde
Journal:  Nat Rev Dis Primers       Date:  2020-07-16       Impact factor: 52.329

7.  NOS1AP is a genetic modifier of the long-QT syndrome.

Authors:  Lia Crotti; Maria Cristina Monti; Roberto Insolia; Anna Peljto; Althea Goosen; Paul A Brink; David A Greenberg; Peter J Schwartz; Alfred L George
Journal:  Circulation       Date:  2009-10-12       Impact factor: 29.690

8.  Low penetrance in the long-QT syndrome: clinical impact.

Authors:  S G Priori; C Napolitano; P J Schwartz
Journal:  Circulation       Date:  1999-02-02       Impact factor: 29.690

9.  Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

Authors:  Peter J Schwartz; Cristina Moreno; Maria-Christina Kotta; Matteo Pedrazzini; Lia Crotti; Federica Dagradi; Silvia Castelletti; Kristina H Haugaa; Isabelle Denjoy; Maria A Shkolnikova; Paul A Brink; Marshall J Heradien; Sandrine R M Seyen; Roel L H M G Spätjens; Carla Spazzolini; Paul G A Volders
Journal:  Eur Heart J       Date:  2021-12-07       Impact factor: 29.983
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