BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

145 related articles for article (PubMed ID: 33733458)

  • 1. Expansion of the clinical and molecular spectrum of an XPD-related disorder linked to biallelic mutations in ERCC2 gene.
    Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A
    Clin Genet; 2021 Jun; 99(6):842-848. PubMed ID: 33733458
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
    Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
    Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cerebro-oculo-facio-skeletal syndrome caused by the homozygous pathogenic variant Gly47Arg in ERCC2.
    Reunert J; van den Heuvel A; Rust S; Marquardt T
    Am J Med Genet A; 2021 Mar; 185(3):930-936. PubMed ID: 33369099
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
    Calmels N; Greff G; Obringer C; Kempf N; Gasnier C; Tarabeux J; Miguet M; Baujat G; Bessis D; Bretones P; Cavau A; Digeon B; Doco-Fenzy M; Doray B; Feillet F; Gardeazabal J; Gener B; Julia S; Llano-Rivas I; Mazur A; Michot C; Renaldo-Robin F; Rossi M; Sabouraud P; Keren B; Depienne C; Muller J; Mandel JL; Laugel V
    Orphanet J Rare Dis; 2016 Mar; 11():26. PubMed ID: 27004399
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
    Falik-Zaccai TC; Erel-Segal R; Horev L; Bitterman-Deutsch O; Koka S; Chaim S; Keren Z; Kalfon L; Gross B; Segal Z; Orgal S; Shoval Y; Slor H; Spivak G; Hanawalt PC
    Environ Mol Mutagen; 2012 Aug; 53(7):505-14. PubMed ID: 22826098
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
    Frederick GD; Amirkhan RH; Schultz RA; Friedberg EC
    Hum Mol Genet; 1994 Oct; 3(10):1783-8. PubMed ID: 7849702
    [TBL] [Abstract][Full Text] [Related]  

  • 9. ERCC2/XPD Lys751Gln alter DNA repair efficiency of platinum-induced DNA damage through P53 pathway.
    Zhang G; Guan Y; Zhao Y; van der Straaten T; Xiao S; Xue P; Zhu G; Liu Q; Cai Y; Jin C; Yang J; Wu S; Lu X
    Chem Biol Interact; 2017 Feb; 263():55-65. PubMed ID: 28027876
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterogeneity and overlaps in nucleotide excision repair disorders.
    Ferri D; Orioli D; Botta E
    Clin Genet; 2020 Jan; 97(1):12-24. PubMed ID: 30919937
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The ERCC2/XPD Lys751Gln polymorphism affects DNA repair of benzo[a]pyrene induced damage, tested in an in vitro model.
    Xiao S; Cui S; Lu X; Guan Y; Li D; Liu Q; Cai Y; Jin C; Yang J; Wu S; van der Straaten T
    Toxicol In Vitro; 2016 Aug; 34():300-308. PubMed ID: 27139774
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis.
    Zhao H; Wang LE; Li D; Chamberlain RM; Sturgis EM; Wei Q
    Carcinogenesis; 2008 Aug; 29(8):1560-6. PubMed ID: 18635523
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cerebro-oculo-facio-skeletal syndrome.
    Suzumura H; Arisaka O
    Adv Exp Med Biol; 2010; 685():210-4. PubMed ID: 20687508
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 56(23):5450-6. PubMed ID: 8968100
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
    Gözükara EM; Parris CN; Weber CA; Salazar EP; Seidman MM; Watkins JF; Prakash L; Kraemer KH
    Cancer Res; 1994 Jul; 54(14):3837-44. PubMed ID: 8033104
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
    Mezzina M; Eveno E; Chevallier-Lagente O; Benoit A; Carreau M; Vermeulen W; Hoeijmakers JH; Stefanini M; Lehmann AR; Weber CA
    Carcinogenesis; 1994 Aug; 15(8):1493-8. PubMed ID: 8055625
    [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. XRCC3 and XPD/ERCC2 single nucleotide polymorphisms and the risk of cancer: a HuGE review.
    Manuguerra M; Saletta F; Karagas MR; Berwick M; Veglia F; Vineis P; Matullo G
    Am J Epidemiol; 2006 Aug; 164(4):297-302. PubMed ID: 16707649
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Polymorphisms of DNA repair genes: ERCC1 G19007A and ERCC2/XPD C22541A in a northeastern Chinese population.
    Yin J; Li J; Vogel U; Wang H
    Biochem Genet; 2005 Oct; 43(9-10):543-8. PubMed ID: 16341770
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.