BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

220 related articles for article (PubMed ID: 19931493)

  • 1. Trichothiodystrophy: from basic mechanisms to clinical implications.
    Stefanini M; Botta E; Lanzafame M; Orioli D
    DNA Repair (Amst); 2010 Jan; 9(1):2-10. PubMed ID: 19931493
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
    Hashimoto S; Egly JM
    Hum Mol Genet; 2009 Oct; 18(R2):R224-30. PubMed ID: 19808800
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Comparative study of nucleotide excision repair defects between XPD-mutated fibroblasts derived from trichothiodystrophy and xeroderma pigmentosum patients.
    Nishiwaki T; Kobayashi N; Iwamoto T; Yamamoto A; Sugiura S; Liu YC; Sarasin A; Okahashi Y; Hirano M; Ueno S; Mori T
    DNA Repair (Amst); 2008 Dec; 7(12):1990-8. PubMed ID: 18817897
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
    de Boer J; van Steeg H; Berg RJ; Garssen J; de Wit J; van Oostrum CT; Beems RB; van der Horst GT; van Kreijl CF; de Gruijl FR; Bootsma D; Hoeijmakers JH; Weeda G
    Cancer Res; 1999 Jul; 59(14):3489-94. PubMed ID: 10416615
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome.
    Chiganças V; Lima-Bessa KM; Stary A; Menck CF; Sarasin A
    Cancer Res; 2008 Aug; 68(15):6074-83. PubMed ID: 18676829
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
    Botta E; Nardo T; Orioli D; Guglielmino R; Ricotti R; Bondanza S; Benedicenti F; Zambruno G; Stefanini M
    Hum Mutat; 2009 Mar; 30(3):438-45. PubMed ID: 19085937
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.
    Itin PH; Sarasin A; Pittelkow MR
    J Am Acad Dermatol; 2001 Jun; 44(6):891-920; quiz 921-4. PubMed ID: 11369901
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships.
    Botta E; Offman J; Nardo T; Ricotti R; Zambruno G; Sansone D; Balestri P; Raams A; Kleijer WJ; Jaspers NG; Sarasin A; Lehmann AR; Stefanini M
    Hum Mutat; 2007 Jan; 28(1):92-6. PubMed ID: 16977596
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nucleotide excision repair/transcription gene defects in the fetus and impaired TFIIH-mediated function in transcription in placenta leading to preeclampsia.
    Moslehi R; Ambroggio X; Nagarajan V; Kumar A; Dzutsev A
    BMC Genomics; 2014 May; 15():373. PubMed ID: 24885447
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.
    Theil AF; Nonnekens J; Wijgers N; Vermeulen W; Giglia-Mari G
    Mol Cell Biol; 2011 Sep; 31(17):3630-8. PubMed ID: 21730288
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
    Weeda G; Eveno E; Donker I; Vermeulen W; Chevallier-Lagente O; Taïeb A; Stary A; Hoeijmakers JH; Mezzina M; Sarasin A
    Am J Hum Genet; 1997 Feb; 60(2):320-9. PubMed ID: 9012405
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A history of TFIIH: two decades of molecular biology on a pivotal transcription/repair factor.
    Egly JM; Coin F
    DNA Repair (Amst); 2011 Jul; 10(7):714-21. PubMed ID: 21592869
    [TBL] [Abstract][Full Text] [Related]  

  • 13. XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.
    Orioli D; Compe E; Nardo T; Mura M; Giraudon C; Botta E; Arrigoni L; Peverali FA; Egly JM; Stefanini M
    Hum Mol Genet; 2013 Mar; 22(6):1061-73. PubMed ID: 23221806
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.
    Giglia-Mari G; Coin F; Ranish JA; Hoogstraten D; Theil A; Wijgers N; Jaspers NG; Raams A; Argentini M; van der Spek PJ; Botta E; Stefanini M; Egly JM; Aebersold R; Hoeijmakers JH; Vermeulen W
    Nat Genet; 2004 Jul; 36(7):714-9. PubMed ID: 15220921
    [TBL] [Abstract][Full Text] [Related]  

  • 15. p8/TTD-A as a repair-specific TFIIH subunit.
    Coin F; Proietti De Santis L; Nardo T; Zlobinskaya O; Stefanini M; Egly JM
    Mol Cell; 2006 Jan; 21(2):215-26. PubMed ID: 16427011
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Transcriptional changes in trichothiodystrophy cells.
    Offman J; Jina N; Theron T; Pallas J; Hubank M; Lehmann A
    DNA Repair (Amst); 2008 Aug; 7(8):1364-71. PubMed ID: 18579452
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction.
    Wijnhoven SW; Beems RB; Roodbergen M; van den Berg J; Lohman PH; Diderich K; van der Horst GT; Vijg J; Hoeijmakers JH; van Steeg H
    DNA Repair (Amst); 2005 Nov; 4(11):1314-24. PubMed ID: 16115803
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New clinico-genetic classification of trichothiodystrophy.
    Morice-Picard F; Cario-André M; Rezvani H; Lacombe D; Sarasin A; Taïeb A
    Am J Med Genet A; 2009 Sep; 149A(9):2020-30. PubMed ID: 19681155
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.
    Singh A; Compe E; Le May N; Egly JM
    Am J Hum Genet; 2015 Feb; 96(2):194-207. PubMed ID: 25620205
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing.
    Nonnekens J; Perez-Fernandez J; Theil AF; Gadal O; Bonnart C; Giglia-Mari G
    Hum Mol Genet; 2013 Jul; 22(14):2881-93. PubMed ID: 23562818
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.