A gene regulatory network explains RET–EDNRB epistasis in Hirschsprung disease
نویسندگان
چکیده
منابع مشابه
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 functionally independent CRE variants, one binding Gata2 and the other binding Rarb, also reduce Ret expr...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2019
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddz149