BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

221 related articles for article (PubMed ID: 11511294)

  • 21. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
    Oh KS; Khan SG; Jaspers NG; Raams A; Ueda T; Lehmann A; Friedmann PS; Emmert S; Gratchev A; Lachlan K; Lucassan A; Baker CC; Kraemer KH
    Hum Mutat; 2006 Nov; 27(11):1092-103. PubMed ID: 16947863
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
    Bernardes de Jesus BM; Bjørås M; Coin F; Egly JM
    Mol Cell Biol; 2008 Dec; 28(23):7225-35. PubMed ID: 18809580
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan.
    Nishigori C; Moriwaki S; Takebe H; Tanaka T; Imamura S
    Arch Dermatol; 1994 Feb; 130(2):191-7. PubMed ID: 7905727
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Complementation of the DNA repair deficiency in human xeroderma pigmentosum group a and C cells by recombinant adenovirus-mediated gene transfer.
    Muotri AR; Marchetto MC; Zerbini LF; Libermann TA; Ventura AM; Sarasin A; Menck CF
    Hum Gene Ther; 2002 Oct; 13(15):1833-44. PubMed ID: 12396616
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Xeroderma pigmentosum variant heterozygotes show reduced levels of recovery of replicative DNA synthesis in the presence of caffeine after ultraviolet irradiation.
    Itoh T; Linn S; Kamide R; Tokushige H; Katori N; Hosaka Y; Yamaizumi M
    J Invest Dermatol; 2000 Dec; 115(6):981-5. PubMed ID: 11121129
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.
    Carreau M; Quilliet X; Eveno E; Salvetti A; Danos O; Heard JM; Mezzina M; Sarasin A
    Hum Gene Ther; 1995 Oct; 6(10):1307-15. PubMed ID: 8590735
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Efficient repair of cyclobutane pyrimidine dimers at mutational hot spots is restored in complemented Xeroderma pigmentosum group C and trichothiodystrophy/xeroderma pigmentosum group D cells.
    Zhou NY; Bates SE; Bouziane M; Stary A; Sarasin A; O'Connor TR
    J Mol Biol; 2003 Sep; 332(2):337-51. PubMed ID: 12948486
    [TBL] [Abstract][Full Text] [Related]  

  • 28. A novel XPC pathogenic variant detected in archival material from a patient diagnosed with Xeroderma Pigmentosum: a case report and review of the genetic variants reported in XPC.
    Rivera-Begeman A; McDaniel LD; Schultz RA; Friedberg EC
    DNA Repair (Amst); 2007 Jan; 6(1):100-14. PubMed ID: 17079196
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Genotype-specific Trp53 mutational analysis in ultraviolet B radiation-induced skin cancers in Xpc and Xpc Trp53 mutant mice.
    Reis AM; Cheo DL; Meira LB; Greenblatt MS; Bond JP; Nahari D; Friedberg EC
    Cancer Res; 2000 Mar; 60(6):1571-9. PubMed ID: 10749125
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Effects of XPD mutations on ultraviolet-induced apoptosis in relation to skin cancer-proneness in repair-deficient syndromes.
    Queille S; Drougard C; Sarasin A; Daya-Grosjean L
    J Invest Dermatol; 2001 Nov; 117(5):1162-70. PubMed ID: 11710928
    [TBL] [Abstract][Full Text] [Related]  

  • 31. DNA repair processes protect human beings from premature solar skin damage: evidence from studies on xeroderma pigmentosum.
    Robbins JH; Moshell AN
    J Invest Dermatol; 1979 Jul; 73(1):102-7. PubMed ID: 448168
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.
    Seo JI; Nishigori C; Ahn JJ; Ryu JY; Lee J; Lee MH; Kim SK; Jeong KH
    Medicina (Kaunas); 2023 Apr; 59(4):. PubMed ID: 37109656
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
    Kobayashi T; Kuraoka I; Saijo M; Nakatsu Y; Tanaka A; Someda Y; Fukuro S; Tanaka K
    Hum Mutat; 1997; 9(4):322-31. PubMed ID: 9101292
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
    Emmert S; Wetzig T; Imoto K; Khan SG; Oh KS; Laspe P; Zachmann K; Simon JC; Kraemer KH
    J Invest Dermatol; 2006 Nov; 126(11):2542-4. PubMed ID: 16794584
    [No Abstract]   [Full Text] [Related]  

  • 35. 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]  

  • 36. In vivo destabilization and functional defects of the xeroderma pigmentosum C protein caused by a pathogenic missense mutation.
    Yasuda G; Nishi R; Watanabe E; Mori T; Iwai S; Orioli D; Stefanini M; Hanaoka F; Sugasawa K
    Mol Cell Biol; 2007 Oct; 27(19):6606-14. PubMed ID: 17682058
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
    Liu X; Zhang X; Qiao J; Fang H
    Int J Med Sci; 2013; 10(6):766-70. PubMed ID: 23630442
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Chromosomal localization of three repair genes: the xeroderma pigmentosum group C gene and two human homologs of yeast RAD23.
    van der Spek PJ; Smit EM; Beverloo HB; Sugasawa K; Masutani C; Hanaoka F; Hoeijmakers JH; Hagemeijer A
    Genomics; 1994 Oct; 23(3):651-8. PubMed ID: 7851894
    [TBL] [Abstract][Full Text] [Related]  

  • 39. The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.
    Lalle P; Nouspikel T; Constantinou A; Thorel F; Clarkson SG
    J Invest Dermatol; 2002 Feb; 118(2):344-51. PubMed ID: 11841555
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical, genetic and DNA repair studies on a consecutive series of patients with xeroderma pigmentosum.
    Pawsey SA; Magnus IA; Ramsay CA; Benson PF; Giannelli F
    Q J Med; 1979 Apr; 48(190):179-210. PubMed ID: 504548
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.