Frameshift mutations at the C-terminus of HIST1H1E result in a specific DNA hypomethylation signature

BACKGROUND: We previously associated HIST1H1E mutations causing Rahman syndrome with a specific genome-wide methylation pattern. RESULTS: Methylome analysis from peripheral blood samples of six affected subjects led us to identify a specific hypomethylated profile. This “episignature” was enriched f...

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Detalles Bibliográficos
Autores principales: Ciolfi, Andrea, Aref-Eshghi, Erfan, Pizzi, Simone, Pedace, Lucia, Miele, Evelina, Kerkhof, Jennifer, Flex, Elisabetta, Martinelli, Simone, Radio, Francesca Clementina, Ruivenkamp, Claudia A. L., Santen, Gijs W. E., Bijlsma, Emilia, Barge-Schaapveld, Daniela, Ounap, Katrin, Siu, Victoria Mok, Kooy, R. Frank, Dallapiccola, Bruno, Sadikovic, Bekim, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947958/
https://www.ncbi.nlm.nih.gov/pubmed/31910894
http://dx.doi.org/10.1186/s13148-019-0804-0

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