Associated Papers
Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P et al.
Human Mutation, 2018
A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre A et al.
American Journal of Medical Genetics. Part A, 2018
The RNA exosome and RNA exosome-linked disease.
Morton DJ et al.
Rna (new York, N.y.), 2018
29093021 (PubMed )
Supplement: supp_064626.117_Supplemental_Tables_S1-S2.docx
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.
Lee WI et al.
Medicine, 2016
The SKIV2L RNA exosome limits activation of the RIG-I-like receptors.
Eckard SC et al.
Nature Immunology, 2014
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A et al.
Orphanet Journal of Rare Diseases, 2013
Trichohepatoenteric syndrome: founder mutation in asian indians.
Kotecha UH et al.
Molecular Syndromology, 2012
Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).
Hartley JL et al.
Gastroenterology, 2010
SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses.
Tomecki R et al.
Wiley Interdisciplinary Reviews. Rna, 0
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