Genetics of congenital heart defects: A candidate gene approach

Lagendijk, Anne Karine, Smith, Kelly A. and Bakkers, Jeroen (2010) Genetics of congenital heart defects: A candidate gene approach. Trends in Cardiovascular Medicine, 20 4: 124-128. doi:10.1016/j.tcm.2010.10.003

Author Lagendijk, Anne Karine
Smith, Kelly A.
Bakkers, Jeroen
Title Genetics of congenital heart defects: A candidate gene approach
Journal name Trends in Cardiovascular Medicine   Check publisher's open access policy
ISSN 1050-1738
Publication date 2010-05
Sub-type Article (original research)
DOI 10.1016/j.tcm.2010.10.003
Volume 20
Issue 4
Start page 124
End page 128
Total pages 5
Place of publication Philadelphia, PA, United States
Publisher Elsevier
Collection year 2011
Language eng
Abstract By using a candidate gene approach, we have identified novel single-nucleotide polymorphisms specific to patients diagnosed with atrioventricular valve and septum defects. Here we discuss how the gene products, in which these polymorphisms were found, functionally interact to regulate endocardial cushion formation during embryo development. These findings support a model in which mutations in different genes but regulating the same process can cause or make one more susceptible to developing atrioventricular valve and septum defects. © 2010 Elsevier Inc.
Keyword Cardiac-valve formation
Developing mouse heart
Cushion formation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
Institute for Molecular Bioscience - Publications
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Citation counts: TR Web of Science Citation Count  Cited 7 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 8 times in Scopus Article | Citations
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Created: Sun, 20 Mar 2011, 00:01:01 EST