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Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs

Prader-Willi syndrome (PWS), a disorder of genomic imprinting, is characterized by neonatal hypotonia, hypogonadism, small hands and feet, hyperphagia and obesity in adulthood. PWS results from the loss of paternal copies of the cluster of SNORD116 C/D box snoRNAs and their host transcript, 116HG, o...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Cruvinel, Estela, Budinetz, Tara, Germain, Noelle, Chamberlain, Stormy, Lalande, Marc, Martins-Taylor, Kristen
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2014
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4481691/
https://ncbi.nlm.nih.gov/pubmed/24760766
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu187
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