Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD

BACKGROUND: Facioscapulohumeral dystrophy (FSHD) is commonly associated with contraction of the D4Z4 macro-satellite repeat on chromosome 4q35 (FSHD1) or mutations in the SMCHD1 gene (FSHD2). Recent studies have shown that the clinical manifestation of FSHD1 can be modified by mutations in the SMCHD...

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Detalles Bibliográficos
Publicado en:Hum Genomics
Main Authors: Mayes, Mary B., Morgan, Taniesha, Winston, Jincy, Buxton, Daniel S., Kamat, Mihir Anant, Smith, Debbie, Williams, Maggie, Martin, Rebecca L., Kleinjan, Dirk A., Cooper, David N., Upadhyaya, Meena, Chuzhanova, Nadia
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
Assuntos:
Primary Research
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4597391/
https://ncbi.nlm.nih.gov/pubmed/26446085
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-015-0047-x
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