Enhancer variants synergistically drive dysfunction of a gene regulatory network in Hirschsprung disease

Common sequence variants in cis-regulatory elements (CREs) are suspected etiological causes of complex disorders. We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold. We now show that two other function...

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Vydáno v:Cell
Hlavní autoři: Chatterjee, Sumantra, Kapoor, Ashish, Akiyama, Jennifer A., Auer, Dallas R., Lee, Dongwon, Gabriel, Stacey, Berrios, Courtney, Pennacchio, Len A., Chakravarti, Aravinda
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5113733/
https://ncbi.nlm.nih.gov/pubmed/27693352
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.cell.2016.09.005
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