Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene-Reference-Cited by-同舟云学术

Cantú Syndrome Resulting from Activating Mutation in theKCNJ8Gene

Published:2014-05-06 Issue:7 Volume:35 Page:809-813
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Cooper Paige E.¹,Reutter Heiko²³,Woelfle Joachim⁴,Engels Hartmut³,Grange Dorothy K.⁵,van Haaften Gijs⁶,van Bon Bregje W.⁷,Hoischen Alexander⁷,Nichols Colin G.¹

Affiliation:

1. Department of Cell Biology and Physiology, and Center for the Investigation of Membrane Excitability Diseases; Washington University School of Medicine; St. Louis Missouri

2. Department of Neonatology; Children's Hospital, University of Bonn; Bonn Germany

3. Institute of Human Genetics; University of Bonn; Bonn Germany

4. Pediatric Endocrinology Division; Children's Hospital, University of Bonn; Bonn Germany

5. Department of Pediatrics; Washington University School of Medicine; St. Louis Missouri

6. Department of Medical Genetics; University Medical Center Utrecht; Utrecht The Netherlands

7. Department of Human Genetics; Nijmegen Center for Molecular Life Sciences, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Center; Nijmegen The Netherlands

Funder

NIH

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. The mitochondrial bioenergetic phenotype for protection from cardiac ischemia in SUR2 mutant mice;Aggarwal;Am J Physiol Heart Circ Physiol,2010

2. Echocardiography monitoring for diazoxide induced pericardial effusion;Avatapalle;BMJ Case Rep,2012

3. Unique properties of the ATP-sensitive K channel in the mouse ventricular cardiac conduction system;Bao;Circ Arrhythm Electrophysiol,2011

4. Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8;Barajas-Martinez;Heart Rhythm,2011

5. Mutation of KCNJ8 in a patient with Cantu syndrome with unique vascular abnormalities-support for the role of K(ATP) channels in this condition;Brownstein;Eur J Med Genet,2013

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