Literature DB >> 29120076

Sequencing of uncertain significance.

J Kevin Donahue1.   

Abstract

Entities:  

Keywords:  basic: molecular; biology/genetics; clinical: electrophysiology - long-QT syndrome

Mesh：

Year:  2017        PMID： 29120076      PMCID： PMC5777870          DOI： 10.1111/jce.13384

Source DB:  PubMed          Journal:  J Cardiovasc Electrophysiol        ISSN： 1045-3873


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  13 in total

1.  Prevalence of the congenital long-QT syndrome.

Authors:  Peter J Schwartz; Marco Stramba-Badiale; Lia Crotti; Matteo Pedrazzini; Alessandra Besana; Giuliano Bosi; Fulvio Gabbarini; Karine Goulene; Roberto Insolia; Savina Mannarino; Fabio Mosca; Luigi Nespoli; Alessandro Rimini; Enrico Rosati; Patrizia Salice; Carla Spazzolini
Journal:  Circulation       Date:  2009-10-19       Impact factor: 29.690

2.  Properties of HERG channels stably expressed in HEK 293 cells studied at physiological temperature.

Authors:  Z Zhou; Q Gong; B Ye; Z Fan; J C Makielski; G A Robertson; C T January
Journal:  Biophys J       Date:  1998-01       Impact factor: 4.033

3.  New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

Authors:  H Li; Q Chen; A J Moss; J Robinson; V Goytia; J C Perry; G M Vincent; S G Priori; M H Lehmann; S W Denfield; D Duff; S Kaine; W Shimizu; P J Schwartz; Q Wang; J A Towbin
Journal:  Circulation       Date:  1998-04-07       Impact factor: 29.690

4.  Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

Authors:  J Chen; A Zou; I Splawski; M T Keating; M C Sanguinetti
Journal:  J Biol Chem       Date:  1999-04-09       Impact factor: 5.157

5.  Functional effects of mutations in KvLQT1 that cause long QT syndrome.

Authors:  Z Wang; M Tristani-Firouzi; Q Xu; M Lin; M T Keating; M C Sanguinetti
Journal:  J Cardiovasc Electrophysiol       Date:  1999-06

6.  Modelling the long QT syndrome with induced pluripotent stem cells.

Authors:  Ilanit Itzhaki; Leonid Maizels; Irit Huber; Limor Zwi-Dantsis; Oren Caspi; Aaron Winterstern; Oren Feldman; Amira Gepstein; Gil Arbel; Haim Hammerman; Monther Boulos; Lior Gepstein
Journal:  Nature       Date:  2011-01-16       Impact factor: 49.962

7.  Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

Authors:  Alessandra Moretti; Milena Bellin; Andrea Welling; Christian Billy Jung; Jason T Lam; Lorenz Bott-Flügel; Tatjana Dorn; Alexander Goedel; Christian Höhnke; Franz Hofmann; Melchior Seyfarth; Daniel Sinnecker; Albert Schömig; Karl-Ludwig Laugwitz
Journal:  N Engl J Med       Date:  2010-07-21       Impact factor: 91.245

8.  Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

Authors:  Q Wang; M E Curran; I Splawski; T C Burn; J M Millholland; T J VanRaay; J Shen; K W Timothy; G M Vincent; T de Jager; P J Schwartz; J A Toubin; A J Moss; D L Atkinson; G M Landes; T D Connors; M T Keating
Journal:  Nat Genet       Date:  1996-01       Impact factor: 38.330

9.  Re-evaluating pathogenicity of variants associated with the long QT syndrome.

Authors:  Jonathan R Kaltman; Frank Evans; Yi-Ping Fu
Journal:  J Cardiovasc Electrophysiol       Date:  2017-11-01

10.  A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

Authors:  M E Curran; I Splawski; K W Timothy; G M Vincent; E D Green; M T Keating
Journal:  Cell       Date:  1995-03-10       Impact factor: 41.582
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