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Journal Abstract Search

162 related items for PubMed ID: 35615778

  • 1. Trichothiodystrophy hair shafts display distinct ultrastructural features.
    Ioannidis AD, Khan SG, Tamura D, DiGiovanna JJ, Rizza E, Kraemer KH, Rice RH.
    Exp Dermatol; 2022 Aug; 31(8):1270-1275. PubMed ID: 35615778
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  • 2. Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay syndrome.
    Lambert WC, Gagna CE, Lambert MW.
    Adv Exp Med Biol; 2010 Aug; 685():106-10. PubMed ID: 20687499
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  • 3. 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
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  • 4. Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene.
    Marionnet C, Quilliet X, Benoit A, Armier J, Sarasin A, Stary A.
    Cancer Res; 1996 Dec 01; 56(23):5450-6. PubMed ID: 8968100
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  • 5. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
    Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR.
    Hum Mol Genet; 2001 Oct 15; 10(22):2539-47. PubMed ID: 11709541
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  • 7. 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 01; 7(12):1990-8. PubMed ID: 18817897
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  • 11. 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 01; 30(3):438-45. PubMed ID: 19085937
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  • 12. Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
    Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.
    Eur J Hum Genet; 2012 Dec 01; 20(12):1308-10. PubMed ID: 22617342
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  • 13. Analysis of mutations in the XPD gene in a patient with brittle hair.
    Shin S, Kim J, Kim Y, Sun JY, Yoo JH, Lee KA.
    Ann Clin Lab Sci; 2013 Dec 01; 43(3):323-7. PubMed ID: 23884229
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  • 15. 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 15; 59(14):3489-94. PubMed ID: 10416615
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  • 16. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
    Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA.
    Hum Mutat; 1997 Jul 15; 9(6):519-25. PubMed ID: 9195225
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