BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

277 related articles for article (PubMed ID: 17552945)

  • 1. Treacher Collins syndrome.
    Dixon J; Trainor P; Dixon MJ
    Orthod Craniofac Res; 2007 May; 10(2):88-95. PubMed ID: 17552945
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation.
    Gonzales B; Henning D; So RB; Dixon J; Dixon MJ; Valdez BC
    Hum Mol Genet; 2005 Jul; 14(14):2035-43. PubMed ID: 15930015
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Treacher Collins syndrome: unmasking the role of Tcof1/treacle.
    Sakai D; Trainor PA
    Int J Biochem Cell Biol; 2009 Jun; 41(6):1229-32. PubMed ID: 19027870
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome.
    Dixon J; Brakebusch C; Fässler R; Dixon MJ
    Hum Mol Genet; 2000 Jun; 9(10):1473-80. PubMed ID: 10888597
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities.
    Dixon J; Jones NC; Sandell LL; Jayasinghe SM; Crane J; Rey JP; Dixon MJ; Trainor PA
    Proc Natl Acad Sci U S A; 2006 Sep; 103(36):13403-8. PubMed ID: 16938878
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
    Su PH; Chen JY; Chen SJ; Yu JS
    J Formos Med Assoc; 2006 Jun; 105(6):518-21. PubMed ID: 16801042
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Treacher Collins Syndrome: the genetics of a craniofacial disease.
    Kadakia S; Helman SN; Badhey AK; Saman M; Ducic Y
    Int J Pediatr Otorhinolaryngol; 2014 Jun; 78(6):893-8. PubMed ID: 24690222
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle.
    Marsh KL; Dixon J; Dixon MJ
    Hum Mol Genet; 1998 Oct; 7(11):1795-800. PubMed ID: 9736782
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders.
    Calo E; Gu B; Bowen ME; Aryan F; Zalc A; Liang J; Flynn RA; Swigut T; Chang HY; Attardi LD; Wysocka J
    Nature; 2018 Feb; 554(7690):112-117. PubMed ID: 29364875
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical features, treatment and genetic background of Treacher Collins syndrome.
    Marszałek B; Wójcicki P; Kobus K; Trzeciak WH
    J Appl Genet; 2002; 43(2):223-33. PubMed ID: 12080178
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Craniofacial development: current concepts in the molecular basis of Treacher Collins syndrome.
    van Gijn DR; Tucker AS; Cobourne MT
    Br J Oral Maxillofac Surg; 2013 Jul; 51(5):384-8. PubMed ID: 23036831
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product.
    Gonzales B; Yang H; Henning D; Valdez BC
    Gene; 2005 Oct; 359():73-80. PubMed ID: 16125876
    [TBL] [Abstract][Full Text] [Related]  

  • 13. POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
    Sanchez E; Laplace-Builhé B; Mau-Them FT; Richard E; Goldenberg A; Toler TL; Guignard T; Gatinois V; Vincent M; Blanchet C; Boland A; Bihoreau MT; Deleuze JF; Olaso R; Nephi W; Lüdecke HJ; Verheij JBGM; Moreau-Lenoir F; Denoyelle F; Rivière JB; Laplanche JL; Willing M; Captier G; Apparailly F; Wieczorek D; Collet C; Djouad F; Geneviève D
    Genet Med; 2020 Mar; 22(3):547-556. PubMed ID: 31649276
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Genetic background has a major effect on the penetrance and severity of craniofacial defects in mice heterozygous for the gene encoding the nucleolar protein Treacle.
    Dixon J; Dixon MJ
    Dev Dyn; 2004 Apr; 229(4):907-14. PubMed ID: 15042714
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome.
    Isaac C; Marsh KL; Paznekas WA; Dixon J; Dixon MJ; Jabs EW; Meier UT
    Mol Biol Cell; 2000 Sep; 11(9):3061-71. PubMed ID: 10982400
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.
    Jones NC; Lynn ML; Gaudenz K; Sakai D; Aoto K; Rey JP; Glynn EF; Ellington L; Du C; Dixon J; Dixon MJ; Trainor PA
    Nat Med; 2008 Feb; 14(2):125-33. PubMed ID: 18246078
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor.
    Valdez BC; Henning D; So RB; Dixon J; Dixon MJ
    Proc Natl Acad Sci U S A; 2004 Jul; 101(29):10709-14. PubMed ID: 15249688
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Detection of a novel silent deletion, a missense mutation and a nonsense mutation in TCOF1.
    Fujioka H; Ariga T; Horiuchi K; Ishikiriyama S; Oyama K; Otsu M; Kawashima K; Yamamoto Y; Sugihara T; Sakiyama Y
    Pediatr Int; 2008 Dec; 50(6):806-9. PubMed ID: 19067896
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins Syndrome throughout its coding region.
    Wise CA; Chiang LC; Paznekas WA; Sharma M; Musy MM; Ashley JA; Lovett M; Jabs EW
    Proc Natl Acad Sci U S A; 1997 Apr; 94(7):3110-5. PubMed ID: 9096354
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel mutations of TCOF1 gene in European patients with Treacher Collins syndrome.
    Conte C; D'Apice MR; Rinaldi F; Gambardella S; Sangiuolo F; Novelli G
    BMC Med Genet; 2011 Sep; 12():125. PubMed ID: 21951868
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.