Transcription factors and congenital heart defects. Annu Rev Physiol 2006;68:97-121
Date
02/08/2006Pubmed ID
16460268DOI
10.1146/annurev.physiol.68.040104.113828Scopus ID
2-s2.0-33645957354 (requires institutional sign-in at Scopus site) 138 CitationsAbstract
Although there have been important advances in diagnostic modalities and therapeutic strategies for congenital heart defects (CHD), these malformations still lead to significant morbidity and mortality in the human population. Over the past 10 years, characterization of the genetic causes of CHD has begun to elucidate some of the molecular causes of these defects. Linkage analysis and candidate-gene approaches have been used to identify gene mutations that are associated with both familial and sporadic cases of CHD. Complementation of the human studies with developmental studies in mouse models provides information for the roles of these genes in normal development as well as indications for disease pathogenesis. Biochemical analysis of these gene mutations has provided further insight into the molecular effects of these genetic mutations. Here we review genetic, developmental, and biochemical studies of six cardiac transcription factors that have been identified as genetic causes for CHD in humans.
Author List
Clark KL, Yutzey KE, Benson DWMESH terms used to index this publication - Major topics in bold
AnimalsGene Expression Regulation, Developmental
Heart
Heart Conduction System
Heart Defects, Congenital
Humans
Neural Crest
Pericardium
Transcription Factors