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Genetics of Congenital Heart Disease

Williams, Kylia and Carson, Jason and Lo, Cecilia (2019) Genetics of Congenital Heart Disease. Biomolecules, 9 (12). p. 879. ISSN 2218-273X

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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.


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Item Type: Article
Status: Published
CreatorsEmailPitt UsernameORCID
Williams, Kyliakyw13@pitt.edukyw13
Carson, Jason
Lo, Ceciliacel36@pitt.educel36
Date: 16 December 2019
Date Type: Publication
Journal or Publication Title: Biomolecules
Volume: 9
Number: 12
Publisher: MDPI AG
Page Range: p. 879
DOI or Unique Handle: 10.3390/biom9120879
Schools and Programs: School of Medicine > Developmental Biology
Refereed: Yes
Uncontrolled Keywords: congenital heart disease; heart development; transcription factors; signaling pathways; chromatin modification; ciliary function
ISSN: 2218-273X
Official URL:
Article Type: Review
Date Deposited: 26 May 2021 16:32
Last Modified: 26 May 2021 16:32


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