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

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

Abstract 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 enr...

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Main Authors: Andrea Ciolfi, Erfan Aref‐Eshghi, Simone Pizzi, Lucia Pedace, Evelina Miele, Jennifer Kerkhof, Elisabetta Flex, Simone Martinelli, Francesca Clementina Radio, Claudia Ruivenkamp, Gijs W.E. Santen, Emilia Bijlsma, Daniela Q.C.M. Barge‐Schaapveld, Katrin Õunap, Victoria Mok Siu, R. Frank Kooy, Bruno Dallapiccola, Bekim Sadiković, Marco Tartaglia
Format: Artigo
Language:English
Published: 2020
Online Access:https://doi.org/10.1186/s13148-019-0804-0
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0804-0
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https://doi.org/10.1186/s13148-019-0804-0
https://clinicalepigeneticsjournal.biomedcentral.com/track/pdf/10.1186/s13148-019-0804-0

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