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2010 1
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Page 1
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 …
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 …
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 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 …
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 …
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 …
The RNA exosome and RNA exosome-linked disease.
Morton DJ, Kuiper EG, Jones SK, Leung SW, Corbett AH, Fasken MB. Morton DJ, et al. RNA. 2018 Feb;24(2):127-142. doi: 10.1261/rna.064626.117. Epub 2017 Nov 1. RNA. 2018. PMID: 29093021 Free PMC article. Review.
Mutations in genes that encode RNA exosome cofactors also cause tissue-specific diseases with complex phenotypes. How mutations in these genes give rise to distinct, tissue-specific diseases is not clear. ...
Mutations in genes that encode RNA exosome cofactors also cause tissue-specific diseases with complex phenotypes. How mutations in th …
Expanding the clinical spectrum in trichohepatoenteric syndrome.
Dorum S, Gorukmez O. Dorum S, et al. Am J Med Genet A. 2021 Oct;185(10):2873-2877. doi: 10.1002/ajmg.a.62354. Epub 2021 May 26. Am J Med Genet A. 2021. PMID: 34037310
Concerning one of the patients, we described a novel variation (c.2114 + 5G > A) in the TTC37 gene and a mild clinical course; meanwhile, the other one was clinically diagnosed with THES at 17 years of age, but they had seizures and died suddenly. ...
Concerning one of the patients, we described a novel variation (c.2114 + 5G > A) in the TTC37 gene and a mild clinical cour …
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Chong JH, et al. Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Eur J Pediatr. 2015. PMID: 25976726 Review.
For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T>G;p.Y1169X and c.3601C>T;p.R1201X in case 1 and c.3507T>G;p.Y1169X and c.154G>T;p.E52X in case 2), suggesting a diagnosis of THE- …
For both cases, routine investigations were inconclusive. WES in both cases showed biallelic truncating mutations in TTC37 (c.3507T&g …
41 results