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dc.contributor.authorAygun, Deniz
dc.contributor.authorBjornsson, Hans T
dc.date.accessioned2019-12-19T10:09:37Z
dc.date.available2019-12-19T10:09:37Z
dc.date.issued2019-11-20
dc.date.submitted2019-12
dc.identifier.citationAygun D, Bjornsson HT. Clinical epigenetics: a primer for the practitioner. Dev Med Child Neurol. 2020;62(2):192–200. doi:10.1111/dmcn.14398en_US
dc.identifier.pmid31749156
dc.identifier.doi10.1111/dmcn.14398
dc.identifier.urihttp://hdl.handle.net/2336/621245
dc.descriptionTo access publisher's full text version of this article click on the hyperlink belowen_US
dc.description.abstractDisruption of epigenetic modifications and the factors that maintain these modifications is rapidly emerging as a cause of developmental disorders. Here we summarize some of the major principles of epigenetics including how epigenetic modifications are: (1) normally reset in the germ line, (2) form an additional layer of interindividual variation, (3) are environmentally sensitive, and (4) change over time in humans. We also briefly discuss the disruption of growth and intellect associated with the Mendelian disorders of the epigenetic machinery and the classical imprinting disorders (such as Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Prader-Willi syndrome, and Angelman syndrome), as well as suggesting some diagnostic considerations for the clinicians taking care of these patients. Finally, we discuss novel therapeutic strategies targeting epigenetic modifications, which may offer a safe alternative to up and coming genome editing strategies for the treatment of genetic diseases. This review provides a starting point for clinicians interested in epigenetics and the role epigenetic disruption plays in human disease.en_US
dc.description.sponsorshipUnited States Department of Health & Human Services National Institutes of Health (NIH) - USA Icelandic Research Fund Louma G. Foundationen_US
dc.language.isoenen_US
dc.publisherWileyen_US
dc.relation.urlhttps://onlinelibrary.wiley.com/doi/full/10.1111/dmcn.14398en_US
dc.rights© 2019 Mac Keith Press.
dc.subjectErfðasjúkdómaren_US
dc.subject.meshEpigenomicsen_US
dc.subject.meshGenetic Diseases, Inbornen_US
dc.titleClinical epigenetics: a primer for the practitioner.en_US
dc.typeArticleen_US
dc.typeOtheren_US
dc.identifier.eissn1469-8749
dc.contributor.department1 School of Arts and Sciences, Tufts University, Medford, MA, USA. 2 McKusick-Nathans Institute of Genetic Medicine, Baltimore, MD, USA. 3 Department of Pediatrics, Johns Hopkins University, Baltimore, MD, USA. 4 Department of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland. 5 Faculty of Medicine, University of Iceland, Reykjavik, Iceland.en_US
dc.identifier.journalDevelopmental Medicine and Child Neurologyen_US
dc.rights.accessNational Consortium - Landsaðganguren_US
dc.departmentcodeMAB12
dc.source.journaltitleDevelopmental medicine and child neurology
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryUnited States
dc.source.countryEngland


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