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Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.
Bourgeois P, Esteve C, Chaix C, Béroud C, Lévy N; THES clinical consortium; Fabre A, Badens C. Bourgeois P, et al. Hum Mutat. 2018 Jun;39(6):774-789. doi: 10.1002/humu.23418. Epub 2018 Mar 25. Hum Mutat. 2018. PMID: 29527791 Review.
Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or SKIV2L genes. Very little is known of these two gene products in mammals nor of the pathophysiology of the disease. ...Here, …
Tricho-Hepato-Enteric syndrome (THES) is a very rare autosomal recessive syndromic enteropathy caused by mutations of either TTC37 or …
Syndromic diarrhea/Tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Goulet O, Badens C. Fabre A, et al. Orphanet J Rare Dis. 2013 Jan 9;8:5. doi: 10.1186/1750-1172-8-5. Orphanet J Rare Dis. 2013. PMID: 23302111 Free PMC article. Review.
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37, 2 genes encoding subunits of the putative human SKI complex. ...The diagnosis SD/THE is initially based on clinical findings and …
Syndromic diarrhea/Tricho-hepato-enteric syndrome (SD/THE) is a rare and severe bowel disorder caused by mutation in SKIV2L or in TTC37
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea.
Poulton C, Pathak G, Mina K, Lassman T, Azmanov DN, McCormack E, Broley S, Dreyer L, Gration D, Taylor E, OSullivan M, Siafarikis A, Ravikumara M, Dawkins H, Pachter N, Baynam G. Poulton C, et al. Gene. 2019 May 30;699:110-114. doi: 10.1016/j.gene.2019.02.059. Epub 2019 Mar 4. Gene. 2019. PMID: 30844479 Free PMC article. Review.
Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically presents in the neonatal period with intractable diarrhoea, intra-uterine growth retardation (IUGR), facial dysmorphism, and hair and skin …
Tricho-hepatic-enteric syndrome (THES) is a genetically heterogeneous rare syndrome (OMIM: 222470 (THES1) and 614602 (THES2)) that typically …
Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome.
Lee WS, Teo KM, Ng RT, Chong SY, Kee BP, Chua KH. Lee WS, et al. Gene. 2016 Jul 15;586(1):1-6. doi: 10.1016/j.gene.2016.03.049. Epub 2016 Apr 12. Gene. 2016. PMID: 27050310
The exons of SKIV2L and TTC37 genes were amplified and sequenced by bi-directional sequencing to identify the point mutations within the coding sequence. ...In family-1, two point mutations were identified in the SKIV2L gene (c.1891G>A and c.3187C>T). I …
The exons of SKIV2L and TTC37 genes were amplified and sequenced by bi-directional sequencing to identify the point mutations …
Ski3/TTC37 deficiency associated with trichohepatoenteric syndrome causes mitochondrial dysfunction in Drosophila.
Ohnuma K, Kishita Y, Nyuzuki H, Kohda M, Ohtsu Y, Takeo S, Asano T, Sato-Miyata Y, Ohtake A, Murayama K, Okazaki Y, Aigaki T. Ohnuma K, et al. FEBS Lett. 2020 Apr 15. doi: 10.1002/1873-3468.13792. Online ahead of print. FEBS Lett. 2020. PMID: 32294252 Free article.
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). ...Here, we characterize the phenotype of a Drosophila model in which ski3, a homolog of TTC37, is disrupted. The mutant flies are pupal lethal, and the pu …
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). ...Here, we characteri …
Novel TTC37 mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.
Gao J, Hu X, Hu W, Sun X, Chen L. Gao J, et al. Transl Pediatr. 2022 Jun;11(6):1050-1057. doi: 10.21037/tp-21-574. Transl Pediatr. 2022. PMID: 35800280 Free PMC article.
BACKGROUND: Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in TTC37 or SKIV2L gene. The presentation is variable, including intractable diarrhea, woolly hair abnormality, immune dysfunction, intrauter …
BACKGROUND: Trichohepatoenteric syndrome (THES) is a rare autosomal recessive genetic disease caused by pathogenic mutations in TTC37
Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.
Fabre A, Martinez-Vinson C, Roquelaure B, Missirian C, André N, Breton A, Lachaux A, Odul E, Colomb V, Lemale J, Cézard JP, Goulet O, Sarles J, Levy N, Badens C. Fabre A, et al. Hum Mutat. 2011 Mar;32(3):277-81. doi: 10.1002/humu.21420. Epub 2011 Feb 17. Hum Mutat. 2011. PMID: 21120949
Concurrently, we investigated the pattern of TTC37 expression in a panel of normal human tissues and showed that this gene is widely expressed, with high levels in vascular tissues, lymph node, pituitary, lung, and intestine. In contrast, TTC37 is not express …
Concurrently, we investigated the pattern of TTC37 expression in a panel of normal human tissues and showed that this gene is …
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, Huang JL, Chen CC, Lin JL, Wu RC, Jaing TH, Ou LS. Lee WI, et al. Medicine (Baltimore). 2016 Mar;95(9):e2918. doi: 10.1097/MD.0000000000002918. Medicine (Baltimore). 2016. PMID: 26945392 Free PMC article.
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs de …
Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutatio …
Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.
Kristal E, Nahum A, Ling G, Broides A, Shubinsky G, Eskin-Schwartz M, Hadar N, Progador O, Birk O. Kristal E, et al. Immunol Res. 2022 Dec;70(6):775-780. doi: 10.1007/s12026-022-09305-9. Epub 2022 Jul 1. Immunol Res. 2022. PMID: 35776314
THES is caused by mutations of either Tetratricopeptide Repeat Domain 37 (TTC37) or Ski2 like RNA Helicase (SKIV2L), genes that encode two components of the human SKI complex. Here, we report a patient with a TTC37 homozygous mutation phenotypically typical f …
THES is caused by mutations of either Tetratricopeptide Repeat Domain 37 (TTC37) or Ski2 like RNA Helicase (SKIV2L), genes tha …
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome.
Rider NL, Boisson B, Jyonouchi S, Hanson EP, Rosenzweig SD, Cassanova JL, Orange JS. Rider NL, et al. Front Pediatr. 2015 Jan 30;3:2. doi: 10.3389/fped.2015.00002. eCollection 2015. Front Pediatr. 2015. PMID: 25688341 Free PMC article.
Whole exome sequencing identified compound heterozygous mutations in the TTC37 gene, a known cause of the trichohepatoenteric syndrome (THES). ...
Whole exome sequencing identified compound heterozygous mutations in the TTC37 gene, a known cause of the trichohepatoenteric …
39 results