Epigenetics and Human Disease.
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ABSTRACT:
SUBMITTER: Zoghbi HY
PROVIDER: S-EPMC4743078 | biostudies-literature | 2016 Feb
REPOSITORIES: biostudies-literature
Publications
Epigenetics and Human Disease.
Zoghbi Huda Y HY Beaudet Arthur L AL
Cold Spring Harbor perspectives in biology 20160201 2
Genetic causes for human disorders are being discovered at an unprecedented pace. A growing subclass of disease-causing mutations involves changes in the epigenome or in the abundance and activity of proteins that regulate chromatin structure. This article focuses on research that has uncovered human diseases that stem from such epigenetic deregulation. Disease may be caused by direct changes in epigenetic marks, such as DNA methylation, commonly found to affect imprinted gene regulation. Also d ...[more]
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