Citations for
1CFSMR, TMCO1
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia.
Pehlivan D, Karaca E, Aydin H, Beck CR, Gambin T, Muzny DM, Bilge Geckinli B, Karaman A, Jhangiani SN; Centers for Mendelian Genomics, Gibbs RA, Lupski JR.
Eur J Hum Genet 22(9):1145-8. doi: 10.1038/ejhg.2013.291. Epub 2014 Jan 15. 2014
2CFSMR, TMCO1
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.
Am J Med Genet A 164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Review. 2014
3CFSMR, TMCO1
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.
Clin Genet 84(4):394-5. doi: 10.1111/cge.12088. Epub 2013 Feb 20. No abstract available. 2013
4TMCO1
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.
Invest Ophthalmol Vis Sci 53(8):4917-25. doi: 10.1167/iovs.11-9047. 2012
5TMCO1
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.
Mol Biol Rep 37(3):1611-8. Epub 2009 May 16.PMID: 19449125 2010
6CFSMR, TMCO1
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.
Proc Natl Acad Sci U S A 107(1):258-63. Epub 2009 Dec 14.PMID: 20018682 2010
7ACPL2, ALKAL1, ALKAL2, ALKBH7, AMICA1, APOO, B4GALT4, BRD9, BTNL3, C10orf99, C17orf48, C19orf41, C1QTNF6, C1orf56, C1orf91, C2orf66, CA11, CCBE1, CCDC126, CD276, CHODL, CHRDL2, CHSY1, CLEC2A, COLEC10, COLEC11, CYP20A1, DEFB123, DHRS13, DPEP2, DPEP3, EMC10, ESPNL, FAM174A, FAM20A, FAM55D, FKBP7, GLT8D2, GNP3, GOLT1B, GPN2, GPR78, GRAMD1B, HEPACAM2, HSD17B13, IL17RE, IL22RA1, LRRC28, LYPD2, MPZL2, NXPH1, NXPH2, NXPH3, NXPH4, OLFML1, PAOX, PATE-M, PEF1, PLXNA4, RELL2, SARAF, SCRG1, SHISA4, SIDT2, SLC35E3, SLC35F5, SLITRK1, SPOCK3, SPON2, SUSD1, SUSD2, SUSD3, TEX101, TMCO1, TMEM50A, TMEM9B, TMPRSS4, TMPRSS6, TRHDE, TTC14, UNQ9391, WFIKKN2, YME1L1, ZDHHC24
The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A.
Genome Res 13(10):2265-70. Epub 2003 Sep 15. Erratum in: Genome Res. 2003 Dec;13(12):2759. 2003
8TMCO1
Multi-ubiquitination of a nascent membrane protein produced in a rabbit reticulocyte lysate.
Iwamuro S, Saeki M, Kato S.
J Biochem 126(1):48-53. 1999
9ABCB6, ADCK2, ANAPC7, ANKRD46, ASPHD1, AVPI1, AZIN1, BRINP2, C12orf24, C14orf79, C17orf90, C17orf91, C5orf15, C9orf127, C9orf25, C9orf82, CNIH3, COG3, COG7, CREB3L1, CSRNP2, DHX29, DHX57, DLAT, EIF2B2, ERI3, FAM13C1, FAM35A, FAM54B, FLAD1, GHITM, GRIP2, GRPEL1, HMGCLL1, IP6K2, IP6K2, ITGB1BP1, KCMF1, KIFC2, LRP10, MDM1, MFN1, NAPG, NCALD, NECAB2, NIPAL4, NPTN, NTNG2, PASK, PCDHB10, PDIA6, PHPT1, PI4K2A, PNPLA2, POGK, PTOV1, RNF13, RNF41, SAC3D1, SDCBP2, SELT, SLC38A6, SLC39A3, SMURF1, SPRED2, SUCLG2, TMCO1, TMEM183A, TP53I11, TRPC4AP, TSC22D3, TUBB, TXNDC12, UTP18, WDR40A, WDR77, WSB2, ZMIZ1
Large-scale concatenation cDNA sequencing.
Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY,Wentland MA, Lennon G, Gibbs RA.
Genome Res 7(4):353-8. 1997