Genetics of Congenital Heart Disease

Genetics of Congenital Heart Disease

Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important...

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Veröffentlicht in:Biomolecules (Basel, Switzerland) Switzerland), 2019-12, Vol.9 (12), p.879
Hauptverfasser: Williams, Kylia, Carson, Jason, Lo, Cecilia
Format: Artikel
Sprache:eng
Schlagworte:
Heart Defects, Congenital - diagnosis
Heart Defects, Congenital - etiology
Heart Defects, Congenital - genetics
Humans
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Zusammenfassung:Congenital heart disease (CHD) is one of the most common birth defects. Studies in animal models and humans have indicated a genetic etiology for CHD. About 400 genes have been implicated in CHD, encompassing transcription factors, cell signaling molecules, and structural proteins that are important for heart development. Recent studies have shown genes encoding chromatin modifiers, cilia related proteins, and cilia-transduced cell signaling pathways play important roles in CHD pathogenesis. Elucidating the genetic etiology of CHD will help improve diagnosis and the development of new therapies to improve patient outcomes.
ISSN:2218-273X
2218-273X
DOI:10.3390/biom9120879