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2009 2
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From Disease Description and Gene Discovery to Functional Cell Pathway: A Decade-Long Journey for TMCO1.
Batchelor-Regan H, Xin B, Zhou A, Wang H. Batchelor-Regan H, et al. Front Genet. 2021 May 20;12:652400. doi: 10.3389/fgene.2021.652400. eCollection 2021. Front Genet. 2021. PMID: 34093650 Free PMC article. Review.
The implication of previously uncharacterized TMCO1 within disease has instigated a 10-year journey to understand the function of TMCO1 protein in Ca(2+) homeostasis. ...This mini-review brings together the clinical and scientific advances made since the discovery o …
The implication of previously uncharacterized TMCO1 within disease has instigated a 10-year journey to understand the function of …
TMCO1 Is an ER Ca(2+) Load-Activated Ca(2+) Channel.
Wang QC, Zheng Q, Tan H, Zhang B, Li X, Yang Y, Yu J, Liu Y, Chai H, Wang X, Sun Z, Wang JQ, Zhu S, Wang F, Yang M, Guo C, Wang H, Zheng Q, Li Y, Chen Q, Zhou A, Tang TS. Wang QC, et al. Cell. 2016 Jun 2;165(6):1454-1466. doi: 10.1016/j.cell.2016.04.051. Epub 2016 May 19. Cell. 2016. PMID: 27212239 Free article.
TMCO1 knockout mice reproduce the main clinical features of human cerebrofaciothoracic (CFT) dysplasia spectrum, a developmental disorder linked to TMCO1 dysfunction, and exhibit severe mishandling of ER Ca(2+) in cells. Our findings indicate that TMCO1 provi …
TMCO1 knockout mice reproduce the main clinical features of human cerebrofaciothoracic (CFT) dysplasia spectrum, a developmental diso …
Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.
Mukamel RE, Handsaker RE, Sherman MA, Barton AR, Hujoel MLA, McCarroll SA, Loh PR. Mukamel RE, et al. Cell. 2023 Aug 17;186(17):3659-3673.e23. doi: 10.1016/j.cell.2023.07.002. Epub 2023 Jul 31. Cell. 2023. PMID: 37527660 Free article.
Association and statistical fine-mapping analyses identified 58 VNTRs that appeared to influence a complex trait in UK Biobank, 18 of which also appeared to modulate expression or splicing of a nearby gene. Non-coding VNTRs at TMCO1 and EIF3H appeared to generate th …
Association and statistical fine-mapping analyses identified 58 VNTRs that appeared to influence a complex trait in UK Biobank, 18 of which …
TMCO1 expression promotes cell proliferation and induces epithelial-mesenchymal transformation in human gliomas.
Gao L, Ye Z, Liu JH, Yang JA, Li Y, Cai JY, Wang YX, Tong SA, Deng G, Zhang S, Chen QX. Gao L, et al. Med Oncol. 2022 May 15;39(5):90. doi: 10.1007/s12032-022-01687-y. Med Oncol. 2022. PMID: 35568751
However, the role of TMCO1 in gliomas remains unclear. The purpose of this study was to detect the role of TMCO1 in the pathogenesis and progression of gliomas. ...Knockdown of TMCO1 inhibited the proliferation and induced apoptosis of U87 and U251 cells. ...
However, the role of TMCO1 in gliomas remains unclear. The purpose of this study was to detect the role of TMCO1 in the pathog …
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #614132). TMCO1-defect syndrome shares many features with CFT. This study supports the fact that "TMCO1-defect syndrome," initial …
Another founder TMCO1 mutation has recently been reported to cause a unique genetic condition, TMCO1-defect syndrome (OMIM #61 …
Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
Sharma S, Burdon KP, Chidlow G, Klebe S, Crawford A, Dimasi DP, Dave A, Martin S, Javadiyan S, Wood JP, Casson R, Danoy P, Griggs K, Hewitt AW, Landers J, Mitchell P, Mackey DA, Craig JE. Sharma S, et al. Invest Ophthalmol Vis Sci. 2012 Jul 24;53(8):4917-25. doi: 10.1167/iovs.11-9047. Invest Ophthalmol Vis Sci. 2012. PMID: 22714896
METHODS: Association of SNP rs4656461 with five clinical parameters was assessed in 1420 POAG cases using linear regression. The TMCO1 gene was screened for mutations in 95 cases with a strong family history and advanced disease. ...CONCLUSIONS: This study shows a r …
METHODS: Association of SNP rs4656461 with five clinical parameters was assessed in 1420 POAG cases using linear regression. The TMCO1 …
Molecular cloning, expression patterns and subcellular localization of porcine TMCO1 gene.
Zhang Z, Mo D, Cong P, He Z, Ling F, Li A, Niu Y, Zhao X, Zhou C, Chen Y. Zhang Z, et al. Mol Biol Rep. 2010 Mar;37(3):1611-8. doi: 10.1007/s11033-009-9573-8. Epub 2009 May 16. Mol Biol Rep. 2010. PMID: 19449125
The product of transmembrane and coiled-coil domains 1 (TMCO1) gene is a member of DUF841 superfamily of several eukaryotic proteins with unknown function. ...This data provides an important basis for conducing further studies on the functions and regulatory mechani …
The product of transmembrane and coiled-coil domains 1 (TMCO1) gene is a member of DUF841 superfamily of several eukaryotic pr …
SNP located in an AluJb repeat downstream of TMCO1, rs4657473, is protective for POAG in African Americans.
Verkuil L, Danford I, Pistilli M, Collins DW, Gudiseva HV, Trachtman BT, He J, Rathi S, Haider N, Ying GS, Chavali VRM, O'Brien JM. Verkuil L, et al. Br J Ophthalmol. 2019 Oct;103(10):1530-1536. doi: 10.1136/bjophthalmol-2018-313086. Epub 2019 Mar 12. Br J Ophthalmol. 2019. PMID: 30862618 Free PMC article.
AIMS: To determine the association of single nucleotide polymorphisms (SNPs) downstream from the TMCO1 gene with primary open-angle glaucoma (POAG) in African Americans (AA). ...CONCLUSION: Our results demonstrate that a SNP downstream of TMCO1, rs4657473, is …
AIMS: To determine the association of single nucleotide polymorphisms (SNPs) downstream from the TMCO1 gene with primary open- …
A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.
Sharkia R, Zalan A, Jabareen-Masri A, Hengel H, Schöls L, Kessel A, Azem A, Mahajnah M. Sharkia R, et al. Am J Med Genet A. 2019 Jul;179(7):1338-1345. doi: 10.1002/ajmg.a.61168. Epub 2019 May 18. Am J Med Genet A. 2019. PMID: 31102500
The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial dysmorphism, multiple malformations of the vertebrae and ribs, and intellectual disability. Recently, a TMCO1 gene mutation was …
The main clinical features of cerebro-facio-thoracic dysplasia (CFTD) syndrome, which were described over four decades ago, include facial d …
High Expression of Long Non-Coding RNA TMCO1-AS1 is Associated With Poor Prognosis of Hepatocellular Carcinoma.
Huang X, Zhu S, Zhang K, Tan W, Chen Y, Shang C. Huang X, et al. Front Mol Biosci. 2022 Jan 24;9:814058. doi: 10.3389/fmolb.2022.814058. eCollection 2022. Front Mol Biosci. 2022. PMID: 35141283 Free PMC article.
A survival prognostic model was established combining TMCO1-AS1 expression and other clinical characteristics. Results: Bioinformatics analysis showed the aberrant high expression of TMCO1-AS1 in HCC tissue. ...Moreover, survival analysis found a significant inverse …
A survival prognostic model was established combining TMCO1-AS1 expression and other clinical characteristics. Results: Bioinformatic …
52 results