Epigenetic changes in specific embryonic cell types result in birth defects
Author:
Funder
U.S. Department of Health ; Human Services | National Institutes of Health
American Heart Association
The Japan Society for the Promotion of Science Overseas Research Fellowship
Publisher
Springer Science and Business Media LLC
Link
https://www.nature.com/articles/s44161-023-00396-7.pdf
Reference5 articles.
1. Liu, Y. et al. Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies. Int. J. Epidemiol. 48, 455–463 (2019). A systematic review and meta-analysis of the birth prevalence of CHD.
2. Jin, S. C. et al. Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. Nat. Genet. 49, 1593–1601 (2017). This paper reports CHD-associated genes identified by analysis of the Pediatric Cardiac Genomics Consortium database, one of the largest DNA sequencing efforts of CHD trios (parents and offspring).
3. Gifford, C. A. et al. Oligogenic inheritance of a human heart disease involving a genetic modifier. Science. 364, 865–870 (2019). This paper shows that rare gene variants can be inherited independently from both parents to cause oligogenic disease.
4. Basu, M. & Garg, V. Maternal hyperglycemia and fetal cardiac development: Clinical impact and underlying mechanisms. Birth Defects Res. 110, 1504–1516 (2018). A review article on the genetic, enviromental and epigenetic factors in CHD associated with PGDM.
5. Srivastava, D. Modeling human cardiac chambers with organoids. N. Engl. J. Med. 385, 847–849 (2021). A review article on human cardiac organoids and their potential application for understanding CHDs.
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