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- Title
Editorial: Epigenetic Mechanisms and Their Involvement in Rare Diseases.
- Authors
Rastegar, Mojgan; Yasui, Dag H.
- Abstract
A connection between Helsmoortel-Van der Aa syndrome and other neurodevelopmental disorders such as Prader-Willi and Rubenstein-Taybi syndromes was suggested by common symptoms of intellectual disability and dysmorphic features. Epigenetics and rare diseases, MeCP2 isoforms and rett syndrome (RTT), DNA methylation and histone modifications, ATRX and gene regulatory mechanisms, activity dependent neuroprotective protein (ADNP) and chromatin remodeling, Beckwith-Wiedemann Syndrome (BWS) and Prader-Willi Syndrome (PWS), O-linked-D-N-acetylglucosamine (O-GlcNAc), MYCN-related epigenetic factors and non-coding regulatory RNAs Keywords: epigenetics and rare diseases; MeCP2 isoforms and rett syndrome (RTT); DNA methylation and histone modifications; ATRX and gene regulatory mechanisms; activity dependent neuroprotective protein (ADNP) and chromatin remodeling; Beckwith-Wiedemann Syndrome (BWS) and Prader-Willi Syndrome (PWS); O-linked-D-N-acetylglucosamine (O-GlcNAc); MYCN-related epigenetic factors and non-coding regulatory RNAs EN epigenetics and rare diseases MeCP2 isoforms and rett syndrome (RTT) DNA methylation and histone modifications ATRX and gene regulatory mechanisms activity dependent neuroprotective protein (ADNP) and chromatin remodeling Beckwith-Wiedemann Syndrome (BWS) and Prader-Willi Syndrome (PWS) O-linked-D-N-acetylglucosamine (O-GlcNAc) MYCN-related epigenetic factors and non-coding regulatory RNAs 1 3 3 09/06/21 20210901 NES 210901 Epigenetic mechanisms are diverse modes of gene regulation, acting independent of genetic sequences.
- Subjects
RARE diseases; EPIGENETICS; GENETIC mutation; PRADER-Willi syndrome
- Publication
Frontiers in Genetics, 2021, Vol 12, p1
- ISSN
1664-8021
- Publication type
Editorial
- DOI
10.3389/fgene.2021.755076