CDCA7 and HELLS mutations undermine nonhomologous end joining in centromeric instability syndrome

Mutations in CDCA7 and HELLS that respectively encode a CXXC-type zinc finger protein and an SNF2 family chromatin remodeler cause immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome types 3 and 4. Here, we demonstrate that the classical nonhomologous end joining (C-NHEJ)...

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Bibliografiske detaljer
Udgivet i:J Clin Invest
Main Authors: Unoki, Motoko, Funabiki, Hironori, Velasco, Guillaume, Francastel, Claire, Sasaki, Hiroyuki
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2018
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6307953/
https://ncbi.nlm.nih.gov/pubmed/30307408
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI99751
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