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Williams K, Carson J, Lo C. Genetics of Congenital Heart Disease. Biomolecules. 2019;9(12)doi: 10.3390/biom9120879.
Williams, K., Carson, J., & Lo, C. (2019). Genetics of Congenital Heart Disease. Biomolecules, 9(12), . https://doi.org/10.3390/biom9120879
Williams, Kylia, et al. "Genetics of Congenital Heart Disease." Biomolecules vol. 9,12 (2019). doi: https://doi.org/10.3390/biom9120879
Williams K, Carson J, Lo C. Genetics of Congenital Heart Disease. Biomolecules. 2019 Dec 16;9(12). doi: 10.3390/biom9120879. PMID: 31888141; PMCID: PMC6995556.
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Biomolecules. 2019 Dec 16;9(12). doi: 10.3390/biom9120879.

Genetics of Congenital Heart Disease.

Biomolecules

Kylia Williams, Jason Carson, Cecilia Lo

Affiliations

  1. Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15201, USA.

PMID: 31888141 PMCID: PMC6995556 DOI: 10.3390/biom9120879

Abstract

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.

Keywords: chromatin modification; ciliary function; congenital heart disease; heart development; signaling pathways; transcription factors

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