Ontology highlight
ABSTRACT:
SUBMITTER: Fabre A
PROVIDER: S-EPMC3322239 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Fabre Alexandre A Charroux Bernard B Martinez-Vinson Christine C Roquelaure Bertrand B Odul Egritas E Sayar Ersin E Smith Hilary H Colomb Virginie V Andre Nicolas N Hugot Jean-Pierre JP Goulet Olivier O Lacoste Caroline C Sarles Jacques J Royet Julien J Levy Nicolas N Badens Catherine C
American journal of human genetics 20120322 4
Syndromic diarrhea (or trichohepatoenteric syndrome) is a rare congenital bowel disorder characterized by intractable diarrhea and woolly hair, and it has recently been associated with mutations in TTC37. Although databases report TTC37 as being the human ortholog of Ski3p, one of the yeast Ski-complex cofactors, this lead was not investigated in initial studies. The Ski complex is a multiprotein complex required for exosome-mediated RNA surveillance, including the regulation of normal mRNA and ...[more]