Aberrant signature methylome by DNMT1 hot spot mutation in hereditary sensory and autonomic neuropathy 1E

DNA methyltransferase 1 (DNMT1) is essential for DNA methylation, gene regulation and chromatin stability. We previously discovered DNMT1 mutations cause hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss (HSAN1E; OMIM 614116). HSAN1E is the first adult-onset neurodege...

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Bibliografiska uppgifter
Huvudupphovsmän: Sun, Zhifu, Wu, Yanhong, Ordog, Tamas, Baheti, Saurabh, Nie, Jinfu, Duan, Xiaohui, Hojo, Kaori, Kocher, Jean-Pierre, Dyck, Peter J, Klein, Christopher J
Materialtyp: Artigo
Språk:Inglês
Publicerad: Landes Bioscience 2014
Ämnen:
Research Paper
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4164503/
https://ncbi.nlm.nih.gov/pubmed/25033457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4161/epi.29676
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