| 1 | NBN, TCOF1
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| Treacher Collins syndrome TCOF1 protein cooperates with NBS1 in the DNA damage response.
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| Ciccia A, Huang JW, Izhar L, Sowa ME, Harper JW, Elledge SJ.
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| Proc Natl Acad Sci U S A 111(52):18631-6. doi: 10.1073/pnas.1422488112. Epub 2014 Dec 15.
2014
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| 2 | NBN, TCOF1
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| The NBS1-Treacle complex controls ribosomal RNA transcription in response to DNA damage.
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| Larsen DH, Hari F, Clapperton JA, Gwerder M, Gutsche K, Altmeyer M, Jungmichel S, Toledo LI, Fink D, Rask MB, Grøfte M, Lukas C, Nielsen ML, Smerdon SJ, Lukas J, Stucki M.
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| Nat Cell Biol 16(8):792-803. doi: 10.1038/ncb3007. Epub 2014 Jul 27.
2014
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| 3 | POLR1D, TCOF1, TCS, TCSPD
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| Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome.
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| Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B.
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| Genet Med 16(9):720-4. doi: 10.1038/gim.2014.12. Epub 2014 Mar 6.
2014
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| 4 | CAMK2A, TCOF1
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| Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.
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| Vincent M, Collet C, Verloes A, Lambert L, Herlin C, Blanchet C, Sanchez E, Drunat S, Vigneron J, Laplanche JL, Puechberty J, Sarda P, Geneviève D.
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| Eur J Hum Genet 22(1):52-6. doi: 10.1038/ejhg.2013.98. Epub 2013 May 22.
2014
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| 5 | POLR1C, POLR1D, TCOF1
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| Treacher Collins Syndrome: the genetics of a craniofacial disease.
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| Kadakia S, Helman SN, Badhey AK, Saman M, Ducic Y.
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| Int J Pediatr Otorhinolaryngol 78(6):893-8. doi: 10.1016/j.ijporl.2014.03.006. Epub 2014 Mar 13. Review.
2014
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| 6 | PAX3, TCOF1
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| Tcof1 acts as a modifier of Pax3 during enteric nervous system development and in the pathogenesis of colonic aganglionosis.
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| Barlow AJ, Dixon J, Dixon M, Trainor PA.
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| Hum Mol Genet 22(6):1206-17. doi: 10.1093/hmg/dds528. Epub 2013 Jan 2.
2013
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| 7 | TCOF1, TCS
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| Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.
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| Bowman M, Oldridge M, Archer C, O'Rourke A, McParland J, Brekelmans R, Seller A, Lester T.
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| Eur J Hum Genet 20(7):769-77. doi: 10.1038/ejhg.2012.2. Epub 2012 Feb 8.
2012
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| 8 | PLK1, TCOF1
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| Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.
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| Sakai D, Dixon J, Dixon MJ, Trainor PA.
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| PLoS Genet 8(3):e1002566. doi: 10.1371/journal.pgen.1002566. Epub 2012 Mar 29.
2012
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| 9 | TCOF1, TCS
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| Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
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| Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G.
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| BMC Med Genet 12:125. doi: 10.1186/1471-2350-12-125.
2011
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| 10 | TCOF1, TCS
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| Defects in middle ear cavitation cause conductive hearing loss in the Tcof1 mutant mouse.
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| Richter CA, Amin S, Linden J, Dixon J, Dixon MJ, Tucker AS.
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| Hum Mol Genet 19(8):1551-60. Epub 2010 Jan 27.PMID: 20106873 2010
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| 11 | TCOF1, TCS
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| A synonymous mutation in TCOF1 causes Treacher Collins syndrome due to mis-splicing of a constitutive exon.
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| Macaya D, Katsanis SH, Hefferon TW, Audlin S, Mendelsohn NJ, Roggenbuck J, Cutting GR.
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| Am J Med Genet A 149A(8):1624-7.PMID: 19572402 2009
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| 12 | TCOF1, TCS
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| Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.
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| Masotti C, Ornelas CC, Splendore-Gordonos A, Moura R, Félix TM, Alonso N, Camargo AA, Passos-Bueno MR.
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| BMC Med Genet 10:136.PMID: 20003452 2009
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| 13 | TCOF1, TCS
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| Treacher Collins syndrome: etiology, pathogenesis and prevention.
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| Trainor PA, Dixon J, Dixon MJ.
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| Eur J Hum Genet 17(3):275-83. Epub 2008 Dec 24.PMID: 19107148 2009
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| 14 | TCOF1, TCS
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| Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
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| Sakai D, Trainor PA.
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| Int J Biochem Cell Biol 41(6):1229-32. Epub 2008 Nov 5. Review.PMID: 19027870 2009
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| 15 | TCOF1, UBTF
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| Treacle recruits RNA polymerase I complex to the nucleolus that is independent of UBF.
|
| Lin CI, Yeh NH.
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| Biochem Biophys Res Commun 386(2):396-401. doi: 10.1016/j.bbrc.2009.06.050. Epub 2009 Jun 13.
2009
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| 16 | TCOF1
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| Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
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| Jones NC, Lynn ML, Gaudenz K, Sakai D, Aoto K, Rey JP, Glynn EF, Ellington L, Du C, Dixon J, Dixon MJ, Trainor PA.
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| Nat Med 14(2):125-33. Epub 2008 Feb 3. 2008
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| 17 | TCOF1, TCS
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| Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
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| Sull JW, Liang KY, Hetmanski JB, Fallin MD, Ingersoll RG, Park JW, Wu-Chou YH, Chen PK, Chong SS, Cheah F, Yeow V, Park BY, Jee SH, Jabs EW, Redett R, Scott AF, Beaty TH.
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| Am J Med Genet A 146A(18):2327-31. 2008
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| 18 | DEL2Q31, HOXD@ , TCOF1
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| Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
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| Stevenson DA, Bleyl SB, Maxwell T, Brothman AR, South ST.
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| Am J Med Genet A 143(10):1053-9. 2007
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| 19 | TCOF1
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| Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
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| Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA.
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| Proc Natl Acad Sci U S A 103(36):13403-8. Epub 2006 Aug 28. 2006
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| 20 | TCOF1
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| TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature.
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| Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR.
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| Hum Mutat 25(5):429-34. 2005
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| 21 | TCOF1
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| The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
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| Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC.
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| Hum Mol Genet 14(14):2035-43. Epub 2005 Jun 1. 2005
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| 22 | TCOF1
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| A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction.
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| Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR.
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| Gene 359:44-52. 2005
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| 23 | TCOF1, TCS
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| Identification of mutations in TCOF1: Use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
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| Dixon J, Ellis I, Bottani A, Temple K, Dixon MJ.
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| Am J Med Genet 127A(3):244-8. 2004
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| 24 | TCOF1
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| Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.
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| Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sakiyama Y, Sugihara T.
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| Am J Med Genet 128A(2):173-5. 2004
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| 25 | TCOF1, UBTF
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| The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
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| Valdez BC, Henning D, So RB, Dixon J, Dixon MJ.
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| Proc Natl Acad Sci U S A 101(29):10709-14. Epub 2004 Jul 12. 2004
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| 26 | TCOF1
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| Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons.
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| So RB, Gonzales B, Henning D, Dixon J, Dixon MJ, Valdez BC.
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| Gene 328:49-57. 2004
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| 27 | TCOF1, TCS
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| Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
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| Teber OA, Gillessen-Kaesbach G, Fischer S, Bohringer S, Albrecht B, Albert A, Arslan-Kirchner M, Haan E, Hagedorn-Greiwe M, Hammans C, Henn W, Hinkel GK, Konig R, Kunstmann E, Kunze J, Neumann LM, Prott EC, Rauch A, Rott HD, Seidel H, Spranger S, Sprengel M, Zoll B, Lohmann DR, Wieczorek D.
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| Eur J Hum Genet 12(11):879-90. 2004
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| 28 | AIC, AXR2, CCA, CDG1D, DHOF, DPYD, HPE2, JBTS1, MCIA, MCOPCB2, MKS1, MRXS28, NBCCS2, NS1, OFCD, ONCR, OOD1, OPD2, RBP4, RIEG1, RSTS, TCOF1, WLKWS1, ZEB2
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| Ocular coloboma: a reassessment in the age of molecular neuroscience.
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| Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
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| J Med Genet 41(12):881-91. 2004
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| 29 | TCOF1
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| Parental origin of mutations in sporadic cases of Treacher Collins syndrome.
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| Splendore A, Jabs EW, Felix TM, Passos-Bueno MR.
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| Eur J Hum Genet 11(9):718-22. 2003
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| 30 | TCOF1
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| Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome.
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| Marszalek B, Wisniewski SA, Wojcicki P, Kobus K, Trzeciak WH.
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| Am J Med Genet 123A(2):169-71. 2003
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| 31 | MKLN1, OFD1, TAF5, TBL1X, TCOF1
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| A new sequence motif linking lissencephaly, Treacher Collins and oral-facial-digital type 1 syndromes, microtubule dynamics and cell migration.
|
| Emes RD, Ponting CP.
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| Hum Mol Genet 10(24):2813-20. 2001
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| 32 | TCOF1, TCS
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| Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
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| Dixon J, Brakebusch C, Fassler R, Dixon MJ.
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| Hum Mol Genet 9(10):1473-80. 2000
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| 33 | TCOF1
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| High mutation detection rate in TCOF1 among treacher collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes.
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| Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR.
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| Hum Mutat 16(4):315-22. 2000
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| 34 | NOLC1, TCOF1
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| Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
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| Isaac C, Marsh KL, Paznekas WA, Dixon J, Dixon MJ, Jabs EW, Meier UT.
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| Mol Biol Cell 11(9):3061-71. 2000
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| 35 | TCOF1
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| Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle.
|
| Jones NC, et al.
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| Hum Mol Genet 8(12):2239-2245 1999
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| 36 | CSF1R, D5S2360, D5S2908, D5S2909, D5S2910, D5S2911, D5S2912, D5S2913, D5S2914, D5S2915, D5S2916, D5S2917, D5S2918, D5S2919, D5S2920, D5S2921, D5S2923, D5S2924, GABRA1, GRIA1, IL12B, TCOF1
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| Integrated physical and transcript map of 5q31.3-qter.
|
| Kostrzewa M, et al.
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| Eur J Hum Genet 6 : 266-274. 1998
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| 37 | TCOF1
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| Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
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| Marsh KL, et al.
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| Hum Mol Genet 7 : 1795-1800. 1998
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| 38 | TCOF1
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| The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus.
|
| Winokur ST, et al.
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| Hum Mol Genet 7 : 1947-1952. 1998
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| 39 | TCOF1, TCS
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| The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
|
| Edwards SJ, et al.
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| Am J Hum Genet 60 : 515-524. 1997
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| 40 | TCOF1, TCOF1
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| TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region.
|
| Wise CA, et al.
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| Proc Natl Acad Sci U S A 94 : 3110-3115. 1997
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| 41 | TCOF1, TCS
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| Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene.
|
| Dixon J, et al.
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| Genome Res 7 : 223-234. 1997
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| 42 | TCOF1
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| Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1.
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| Dixon J, Hovanes K, Shiang R, Dixon MJ.
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| Hum Mol Genet 6(5):727-37. 1997
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| 43 | TCOF1
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| Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome.
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| The Treacher Collins Syndrome Collaborative Group.
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| Nat Genet 12 : 130-136. 1996
|
| 44 | NDST1, TCOF1
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| Transcriptional map of the Treacher Collins candidate gene region.
|
| Loftus SK, et al.
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| Genome Res 6 : 26-34. 1996
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| 45 | TCOF1, TCOF1
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| Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene.
|
| Gladwin AJ, et al.
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| Hum Mol Genet 5 : 1533-1538. 1996
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| 46 | TCOF1
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| Treacher Collins syndrome : correlation between clinical and genetic linkage studies.
|
| Dixon MJ, et al.
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| Clin Dysmorphol 3 : 96-103. 1994
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| 47 | TCOF1
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| Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.
|
| Edery P, et al.
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| Am J Med Genet 52 : 174-177. 1994
|
| 48 | TCOF1
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| A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
|
| Dixon J, et al.
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| Am J Hum Genet 55 : 372-378. 1994
|
| 49 | TCOF1
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| A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q.
|
| Loftus SK, et al.
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| Hum Mol Genet 2 : 1785-1792. 1993
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| 50 | TCOF1
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| Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1.
|
| Dixon MJ, et al.
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| Am J Hum Genet 52 : 907-914. 1993
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| 51 | TCOF1
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| Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region.
|
| Jabs EW, et al.
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| Genomics 18 : 7-13. 1993
|
| 52 | TCOF1
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| Genetic and physical mapping of the Treacher Collins syndrome locus : refinement of the localization to chromosome 5q32-33.2.
|
| Dixon M, et al.
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| Hum Mol Genet 1 : 249-253. 1992
|
| 53 | TCOF1
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| Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3.
|
| Jabs EW, et al.
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| Genomics 11 : 193-198. 1991
|
| 54 | TCOF1
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| Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11 : exclusion of the locus from these candidate regions.
|
| Dixon MJ, et al.
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| Am J Hum Genet 48 : 274-280. 1991
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| 55 | LGMD1A, TCOF1, TCS
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| The gene for Treacher Collins syndrome maps to the long arm of chromosome 5.
|
| Dixon MJ, Read AP, Donnai D, Colley A, Dixon J, Williamson R.
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| Am J Hum Genet 49(1):17-22. 1991
|