Literature DB >> 12114482

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle.

A Splendore, E W Jabs, M R Passos-Bueno.   

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Year:  2002        PMID： 12114482      PMCID： PMC1735178          DOI： 10.1136/jmg.39.7.493

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  16 in total

1.  Gross deletions in TCOF1 are a cause of Treacher-Collins-Franceschetti syndrome.

Authors:  Michael Bowman; Michael Oldridge; Caroline Archer; Anthony O'Rourke; Joanna McParland; Roel Brekelmans; Anneke Seller; Tracy Lester
Journal:  Eur J Hum Genet       Date:  2012-02-08       Impact factor: 4.246

Review 2.  Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses.

Authors:  Karla Terrazas; Jill Dixon; Paul A Trainor; Michael J Dixon
Journal:  Wiley Interdiscip Rev Dev Biol       Date:  2017-02-10       Impact factor: 5.814

3.  Mutation screening of Chinese Treacher Collins syndrome patients identified novel TCOF1 mutations.

Authors:  Ying Chen; Luo Guo; Chen-Long Li; Jing Shan; Hai-Song Xu; Jie-Ying Li; Shan Sun; Shao-Juan Hao; Lei Jin; Gang Chai; Tian-Yu Zhang
Journal:  Mol Genet Genomics       Date:  2017-12-11       Impact factor: 3.291

4.  First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.

Authors:  J Beygo; K Buiting; S Seland; H-J Lüdecke; U Hehr; C Lich; B Prager; D R Lohmann; D Wieczorek
Journal:  Mol Syndromol       Date:  2012-01-26

5.  The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.

Authors:  Benigno C Valdez; Dale Henning; Rolando B So; Jill Dixon; Michael J Dixon
Journal:  Proc Natl Acad Sci U S A       Date:  2004-07-12       Impact factor: 11.205

6.  A novel silent deletion, an insertion mutation and a nonsense mutation in the TCOF1 gene found in two Chinese cases of Treacher Collins syndrome.

Authors:  Yan Wang; Xiao-Juan Yin; Tao Han; Wei Peng; Hong-Lin Wu; Xin Liu; Zhi-Chun Feng
Journal:  Mol Genet Genomics       Date:  2014-07-04       Impact factor: 3.291

7.  Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression.

Authors:  Kathryn H Shows; Rita Shiang
Journal:  DNA Cell Biol       Date:  2008-11       Impact factor: 3.311

8.  Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Authors:  Marie Vincent; David Geneviève; Agnès Ostertag; Sandrine Marlin; Didier Lacombe; Dominique Martin-Coignard; Christine Coubes; Albert David; Stanislas Lyonnet; Catheline Vilain; Anne Dieux-Coeslier; Sylvie Manouvrier; Bertrand Isidor; Marie-Line Jacquemont; Sophie Julia; Valérie Layet; Sophie Naudion; Sylvie Odent; Laurent Pasquier; Sybille Pelras; Nicole Philip; Geneviève Pierquin; Fabienne Prieur; Nisrine Aboussair; Tania Attie-Bitach; Geneviève Baujat; Patricia Blanchet; Catherine Blanchet; Hélène Dollfus; Bérénice Doray; Elise Schaefer; Patrick Edery; Fabienne Giuliano; Alice Goldenberg; Cyril Goizet; Agnès Guichet; Christian Herlin; Laetitia Lambert; Bruno Leheup; Jelena Martinovic; Sandra Mercier; Cyril Mignot; Marie-Laure Moutard; Marie-José Perez; Lucile Pinson; Jacques Puechberty; Marjolaine Willems; Hanitra Randrianaivo; Kateline Szakszon; Kateline Szaskon; Annick Toutain; Alain Verloes; Jacqueline Vigneron; Elodie Sanchez; Pierre Sarda; Jean-Louis Laplanche; Corinne Collet
Journal:  Genet Med       Date:  2015-03-19       Impact factor: 8.822

9.  Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.

Authors:  Chiara Conte; Maria Rosaria D'Apice; Fabrizio Rinaldi; Stefano Gambardella; Federica Sangiuolo; Giuseppe Novelli
Journal:  BMC Med Genet       Date:  2011-09-27       Impact factor: 2.103

10.  Reduced transcription of TCOF1 in adult cells of Treacher Collins syndrome patients.

Authors:  Cibele Masotti; Camila C Ornelas; Alessandra Splendore-Gordonos; Ricardo Moura; Têmis M Félix; Nivaldo Alonso; Anamaria A Camargo; Maria Rita Passos-Bueno
Journal:  BMC Med Genet       Date:  2009-12-14       Impact factor: 2.103
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