PubMed (OMIM) for id: 54499

Year	Number of Results
1975	1
1992	1
1996	1
1999	1
2004	1
2007	1
2009	2
2010	2
2011	1
2013	2
2014	1
2016	1
2018	1
2019	2
2024	0

1

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

2

Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.

Michael Yates T, Ng OH, Offiah AC, Willoughby J, Berg JN; DDD Study; Johnson DS. Michael Yates T, et al. Am J Med Genet A. 2019 Jan;179(1):43-49. doi: 10.1002/ajmg.a.60678. Epub 2018 Dec 17. Am J Med Genet A. 2019. PMID: 30556256 Free article.

3

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.

4

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.

5

Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.

Caglayan AO, Per H, Akgumus G, Gumus H, Baranoski J, Canpolat M, Calik M, Yikilmaz A, Bilguvar K, Kumandas S, Gunel M. Caglayan AO, et al. Clin Genet. 2013 Oct;84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20. Clin Genet. 2013. PMID: 23320496 Free PMC article. No abstract available.

6

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.

Burdon KP, Macgregor S, Hewitt AW, Sharma S, Chidlow G, Mills RA, Danoy P, Casson R, Viswanathan AC, Liu JZ, Landers J, Henders AK, Wood J, Souzeau E, Crawford A, Leo P, Wang JJ, Rochtchina E, Nyholt DR, Martin NG, Montgomery GW, Mitchell P, Brown MA, Mackey DA, Craig JE. Burdon KP, et al. Nat Genet. 2011 Jun;43(6):574-8. doi: 10.1038/ng.824. Epub 2011 May 1. Nat Genet. 2011. PMID: 21532571

7

Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.

Xin B, Puffenberger EG, Turben S, Tan H, Zhou A, Wang H. Xin B, et al. Proc Natl Acad Sci U S A. 2010 Jan 5;107(1):258-63. doi: 10.1073/pnas.0908457107. Epub 2009 Dec 14. Proc Natl Acad Sci U S A. 2010. PMID: 20018682 Free PMC article.

8

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

9

Cerebro-facio-thoracic dysplasia: expanding the phenotype.

Cilliers D, Alanay Y, Boduroglu K, Utine E, Tunçbilek E, Clayton-Smith J. Cilliers D, et al. Clin Dysmorphol. 2007 Apr;16(2):121-125. doi: 10.1097/MCD.0b013e328012e292. Clin Dysmorphol. 2007. PMID: 17351359

10

Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings.

Kanaka-Gantenbein C, Fryssira H, Chrousos G, Mastorakos G. Kanaka-Gantenbein C, et al. Am J Med Genet A. 2004 Sep 1;129A(3):330. doi: 10.1002/ajmg.a.30151. Am J Med Genet A. 2004. PMID: 15326640 No abstract available.

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