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Literature DB >> 9354783

KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

E Schulze-Bahr, Q Wang, H Wedekind, W Haverkamp, Q Chen, Y Sun, C Rubie, M Hördt, J A Towbin, M Borggrefe, G Assmann, X Qu, J C Somberg, G Breithardt, C Oberti, H Funke.

Abstract

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：

Year: 1997 PMID： 9354783 DOI： 10.1038/ng1197-267

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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83 in total

1. A new spontaneous mouse mutation in the Kcne1 gene.

Authors: V A Letts; A Valenzuela; C Dunbar; Q Y Zheng; K R Johnson; W N Frankel
Journal: Mamm Genome Date: 2000-10 Impact factor: 2.957

Review 2. Genetic basis for the origin of cardiac arrhythmias: implications for therapy.

Authors: Mackenzi Mbai; Sridharan Rajamani; Brian P Delisle; Blake D Anson; Corey Anderson; Jonathan C Makielski; Craig T January
Journal: Curr Cardiol Rep Date: 2002-09 Impact factor: 2.931

Review 3. Drug-induced long QT syndrome.

Authors: Prince Kannankeril; Dan M Roden; Dawood Darbar
Journal: Pharmacol Rev Date: 2010-12 Impact factor: 25.468

4. Identification of Glycosylation Sites Essential for Surface Expression of the CaVα2δ1 Subunit and Modulation of the Cardiac CaV1.2 Channel Activity.

Authors: Marie-Philippe Tétreault; Benoîte Bourdin; Julie Briot; Emilie Segura; Sylvie Lesage; Céline Fiset; Lucie Parent
Journal: J Biol Chem Date: 2016-01-07 Impact factor: 5.157

KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

1. A new spontaneous mouse mutation in the Kcne1 gene.

Review 2. Genetic basis for the origin of cardiac arrhythmias: implications for therapy.

Review 3. Drug-induced long QT syndrome.

4. Identification of Glycosylation Sites Essential for Surface Expression of the CaVα2δ1 Subunit and Modulation of the Cardiac CaV1.2 Channel Activity.

Review 5. Chloride channel diseases resulting from impaired transepithelial transport or vesicular function.

Review 6. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential.

7. Serial perturbation of MinK in IKs implies an alpha-helical transmembrane span traversing the channel corpus.

8. Auto-phosphorylation of a voltage-gated K+ channel controls non-associative learning.

9. Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport.

10. Clinical and genetic analysis of long QT syndrome in children from six families in Saudi Arabia: are they different?