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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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Detaylı Bibliyografya
Yayımlandı:Hum Genomics
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2015
Konular:
Online Erişim: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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