Publication

Genetics of Congenital Heart Defects: A Candidate Gene Approach

Lagendijk, A. K., Smith, K. A. & Bakkers, J., May-2010, In : TRENDS IN CARDIOVASCULAR MEDICINE. 20, 4, p. 124-128 5 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • Anne Karine Lagendijk
  • Kelly A. Smith
  • Jeroen Bakkers

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. (Trends Cardiovasc Med 2010;20:124-128) (C) 2010, Elsevier Inc. All rights reserved.

Original languageEnglish
Pages (from-to)124-128
Number of pages5
JournalTRENDS IN CARDIOVASCULAR MEDICINE
Volume20
Issue number4
Publication statusPublished - May-2010
Externally publishedYes

    Keywords

  • CARDIAC-VALVE FORMATION, DEVELOPING MOUSE HEART, GROWTH-FACTOR, CUSHION FORMATION, TUMOR-CELLS, DISEASE, VALVULOGENESIS, MORPHOGENESIS, MESENCHYME, EXPRESSION

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