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Journal Abstract Search

191 related items for PubMed ID: 22617342

  • 1. 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; 20(12):1308-10. PubMed ID: 22617342
    [Abstract] [Full Text] [Related]

  • 2. 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
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  • 6. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
    Schäfer A, Gratchev A, Seebode C, Hofmann L, Schubert S, Laspe P, Apel A, Ohlenbusch A, Tzvetkov M, Weishaupt C, Oji V, Schön MP, Emmert S.
    Exp Dermatol; 2013 Jul; 22(7):486-9. PubMed ID: 23800062
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  • 7. 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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  • 8. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
    Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.
    Proc Natl Acad Sci U S A; 1997 Aug 05; 94(16):8658-63. PubMed ID: 9238033
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  • 9. 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 Aug 05; 43(3):323-7. PubMed ID: 23884229
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  • 10. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models.
    van de Ven M, Andressoo JO, van der Horst GT, Hoeijmakers JH, Mitchell JR.
    DNA Repair (Amst); 2012 Nov 01; 11(11):874-83. PubMed ID: 23046824
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  • 11. High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.
    Tamura D, Merideth M, DiGiovanna JJ, Zhou X, Tucker MA, Goldstein AM, Brooks BP, Khan SG, Oh KS, Ueda T, Boyle J, Moslehi R, Kraemer KH.
    Prenat Diagn; 2011 Nov 01; 31(11):1046-53. PubMed ID: 21800331
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  • 12. 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 05; 96(2):194-207. PubMed ID: 25620205
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  • 13. XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
    Fan L, Fuss JO, Cheng QJ, Arvai AS, Hammel M, Roberts VA, Cooper PK, Tainer JA.
    Cell; 2008 May 30; 133(5):789-800. PubMed ID: 18510924
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  • 14. 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 30; 43(12):2222-2233. PubMed ID: 36259739
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  • 15. Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
    Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M.
    Am J Hum Genet; 1998 Oct 30; 63(4):1036-48. PubMed ID: 9758621
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  • 16. Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
    Abiona A, Cordeiro N, Fawcett H, Tamura D, Khan SG, DiGiovanna JJ, Lehmann AR, Fassihi H.
    Pediatrics; 2021 Oct 30; 148(4):. PubMed ID: 34593652
    [Abstract] [Full Text] [Related]

  • 17. Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
    Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA.
    Am J Hum Genet; 1996 Feb 30; 58(2):263-70. PubMed ID: 8571952
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  • 18. Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD.
    Guzder SN, Sung P, Prakash S, Prakash L.
    J Biol Chem; 1995 Jul 28; 270(30):17660-3. PubMed ID: 7629061
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  • 19. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
    Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR.
    Cancer Res; 2000 Jan 15; 60(2):431-8. PubMed ID: 10667598
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  • 20. A Japanese trichothiodystrophy patient with XPD mutations.
    Usuda T, Saijo M, Tanaka K, Sato N, Uchiyama M, Kobayashi T.
    J Hum Genet; 2011 Jan 15; 56(1):77-9. PubMed ID: 20944642
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