Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

DNA methyltransferase 1 (DNMT1) is crucial for maintenance of methylation, gene regulation and chromatin stability(1-3). DNA mismatch repair, cell cycle regulation in post-mitotic neurons(4,5) and neurogenesis(6) are influenced by DNA methylation. Here we show mutations in DNMT1 cause both central a...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Klein, Christopher J., Botuyan, Maria-Victoria, Wu, Yanhong, Ward, Christopher J., Nicholson, Garth A., Hammans, Simon, Hojo, Kaori, Yamanishi, Hiromitch, Karpf, Adam R., Wallace, Douglas C., Simon, Mariella, Lander, Cecilie, Boardman, Lisa A., Cunningham, Julie M., Smith, Glenn E., Litchy, William J., Boes, Benjamin, Atkinson, Elizabeth J., Middha, Sumit, Dyck, P. James, Parisi, Joseph E., Mer, Georges, Smith, David I., Dyck, Peter J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2011
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3102765/
https://ncbi.nlm.nih.gov/pubmed/21532572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.830
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