ArticleAmerican journal of human genetics2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 85 papers.
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Who cites it
85 citing papers in PubMed, 157 citations in OpenAlex.
- Review
- Article
- Sterile activation of RNA-sensing pathways in autoimmunity.Journal of molecular cell biology · 2024Review
- Trichohepatoenteric Syndrome: A Report of Two Children From Bahrain With a Novel Mutation and a Literature Review.Cureus · 2024Article
- Human SKI component SKIV2L regulates telomeric DNA-RNA hybrids and prevents telomere fragility.iScience · 2024Article
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Diet management in congenital diarrheas and enteropathies - general concepts and disease-specific approach, a narrative review.The American journal of clinical nutrition · 2024Review
- Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.Molecular biology reports · 2024Article
- Humoral immune response and safety of SARS-CoV-2 vaccination in very early onset inflammatory bowel disease.Journal of pediatric gastroenterology and nutrition · 2024Article
- Article
- Conserved Residues at the Mtr4 C-Terminus Coordinate Helicase Activity and Exosome Interactions.Biochemistry · 2024Article
- Cellular functions of eukaryotic RNA helicases and their links to human diseases.Nature reviews. Molecular cell biology · 2023Review
- Genome-Wide Characterization of the RNA Exosome Complex in Relation to Growth, Development, and Pathogenicity of Fusarium graminearum.Microbiology spectrum · 2023Article
- Type I Interferonopathies in Childhood.Balkan medical journal · 2023Article
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Management of Enteritis Associated With Tricohepatoenteric Syndrome due toJPGN reports · 2022Article
- Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis.Nature genetics · 2022Article
- RNA exosome drives early B cell development via noncoding RNA processing mechanisms.Science immunology · 2022Article
- The mammalian SKIV2L RNA exosome is essential for early B cell development.Science immunology · 2022Article
- The human SKI complex regulates channeling of ribosome-bound RNA to the exosome via an intrinsic gatekeeping mechanism.Molecular cell · 2022Article
25 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 the decay of nonfunctional mRNA. Considering the fact that TTC37 is homologous to Ski3p, we explored a gene encoding another Ski-complex cofactor, SKIV2L, in six individuals presenting with typical syndromic diarrhea without variation in TTC37. We identified mutations in all six individuals. Our results show that mutations in genes encoding cofactors of the human Ski complex cause syndromic diarrhea, establishing a link between defects of the human exosome complex and a Mendelian disease.
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