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...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Texto
Lenguaje:English
Publicado: 2011
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102765/
https://www.ncbi.nlm.nih.gov/pubmed/21532572
http://dx.doi.org/10.1038/ng.830

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