BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

200 related articles for article (PubMed ID: 36308430)

  • 1. TFIIH mutations can impact on translational fidelity of the ribosome.
    Khalid F; Phan T; Qiang M; Maity P; Lasser T; Wiese S; Penzo M; Alupei M; Orioli D; Scharffetter-Kochanek K; Iben S
    Hum Mol Genet; 2023 Mar; 32(7):1102-1113. PubMed ID: 36308430
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
    Boyle J; Ueda T; Oh KS; Imoto K; Tamura D; Jagdeo J; Khan SG; Nadem C; Digiovanna JJ; Kraemer KH
    Hum Mutat; 2008 Oct; 29(10):1194-208. PubMed ID: 18470933
    [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. Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.
    Zhou X; Khan SG; Tamura D; Ueda T; Boyle J; Compe E; Egly JM; DiGiovanna JJ; Kraemer KH
    Eur J Hum Genet; 2013 Aug; 21(8):831-7. PubMed ID: 23232694
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Hot topics in DNA repair: the molecular basis for different disease states caused by mutations in TFIIH and XPG.
    Schärer OD
    DNA Repair (Amst); 2008 Feb; 7(2):339-44. PubMed ID: 18077223
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.
    Kuschal C; Botta E; Orioli D; Digiovanna JJ; Seneca S; Keymolen K; Tamura D; Heller E; Khan SG; Caligiuri G; Lanzafame M; Nardo T; Ricotti R; Peverali FA; Stephens R; Zhao Y; Lehmann AR; Baranello L; Levens D; Kraemer KH; Stefanini M
    Am J Hum Genet; 2016 Apr; 98(4):627-42. PubMed ID: 26996949
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo-sensitive trichothiodystrophy.
    Lanzafame M; Nardo T; Ricotti R; Pantaleoni C; D'Arrigo S; Stanzial F; Benedicenti F; Thomas MA; Stefanini M; Orioli D; Botta E
    Hum Mutat; 2022 Dec; 43(12):2222-2233. PubMed ID: 36259739
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Reduced levels of prostaglandin I
    Lombardi A; Arseni L; Carriero R; Compe E; Botta E; Ferri D; Uggè M; Biamonti G; Peverali FA; Bione S; Orioli D
    Proc Natl Acad Sci U S A; 2021 Jun; 118(26):. PubMed ID: 34155103
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
    Phan T; Maity P; Ludwig C; Streit L; Michaelis J; Tsesmelis M; Scharffetter-Kochanek K; Iben S
    Nucleic Acids Res; 2021 Nov; 49(19):11197-11210. PubMed ID: 34581812
    [TBL] [Abstract][Full Text] [Related]  

  • 17. XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.
    Fuss JO; Tainer JA
    DNA Repair (Amst); 2011 Jul; 10(7):697-713. PubMed ID: 21571596
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Phenotype-specific adverse effects of XPD mutations on human prenatal development implicate impairment of TFIIH-mediated functions in placenta.
    Moslehi R; Kumar A; Mills JL; Ambroggio X; Signore C; Dzutsev A
    Eur J Hum Genet; 2012 Jun; 20(6):626-31. PubMed ID: 22234153
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.