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References

These sources were used to develop the Genetics Home Reference gene summary on the TCOF1 gene.

Conte C, D'Apice MR, Rinaldi F, Gambardella S, Sangiuolo F, Novelli G. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome. BMC Med Genet. 2011 Sep 27;12:125. doi: 10.1186/1471-2350-12-125. PubMed citation
Dixon J, Jones NC, Sandell LL, Jayasinghe SM, Crane J, Rey JP, Dixon MJ, Trainor PA. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities. Proc Natl Acad Sci U S A. 2006 Sep 5;103(36):13403-8. Epub 2006 Aug 28. PubMed citation
Entrez Gene
Gene Review: Treacher Collins Syndrome
Gonzales B, Henning D, So RB, Dixon J, Dixon MJ, Valdez BC. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. Hum Mol Genet. 2005 Jul 15;14(14):2035-43. Epub 2005 Jun 1. PubMed citation
Horiuchi K, Ariga T, Fujioka H, Kawashima K, Yamamoto Y, Igawa H, Sugihara T, Sakiyama Y. Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. Am J Med Genet A. 2005 May 1;134(4):363-7. PubMed citation
Marszałek B, Wójcicki P, Kobus K, Trzeciak WH. Clinical features, treatment and genetic background of Treacher Collins syndrome. J Appl Genet. 2002;43(2):223-33. Review. PubMed citation
Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol. 2009 Jun;41(6):1229-32. doi: 10.1016/j.biocel.2008.10.026. Epub 2008 Nov 5. Review. PubMed citation
Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR. TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005 May;25(5):429-34. PubMed citation
Splendore A, Silva EO, Alonso LG, Richieri-Costa A, Alonso N, Rosa A, Carakushanky G, Cavalcanti DP, Brunoni D, Passos-Bueno MR. High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat. 2000 Oct;16(4):315-22. Review. PubMed citation
Valdez BC, Henning D, So RB, Dixon J, Dixon MJ. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. Proc Natl Acad Sci U S A. 2004 Jul 20;101(29):10709-14. Epub 2004 Jul 12. PubMed citation


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