Mendelian disorders of the epigenetic machinery: postnatal malleability and therapeutic prospects
نویسندگان
چکیده
منابع مشابه
The Mendelian disorders of the epigenetic machinery.
The Mendelian disorders of the epigenetic machinery are genetic disorders that involve disruption of the various components of the epigenetic machinery (writers, erasers, readers, and remodelers) and are thus expected to have widespread downstream epigenetic consequences. Studying this group may offer a unique opportunity to learn about the role of epigenetics in health and disease. Among these...
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Mendelian disorders of the epigenetic machinery are a newly delineated group of multiple congenital anomaly and intellectual disability syndromes resulting from mutations in genes encoding components of the epigenetic machinery. The gene products affected in these inherited conditions act in trans and are expected to have widespread epigenetic consequences. Many of these syndromes demonstrate p...
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Copyright © 2010 Massachusetts Medical Society. Progress in the treatment of genetic disorders has derived from insight into their causes and has focused on nutritional limitation of a substrate, the purging of a toxic metabolite, or compensatory expression of a protein whose deficiency causes disease, through gene delivery. In this review, I focus on therapeutic strategies that exploit a preci...
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Mendelian randomization: prospects, potentials, and limitations.
Mendelian randomization is the term applied to the random assortment of alleles at the time of gamete formation. This results in population distributions of genetic variants that are generally independent of behavioural and environmental factors that typically confound epidemiological associations between putative risk factors and disease. In some circumstances this can provide a study design a...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2019
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddz174