BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

327 related articles for article (PubMed ID: 11121128)

  • 1. Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.
    Slor H; Batko S; Khan SG; Sobe T; Emmert S; Khadavi A; Frumkin A; Busch DB; Albert RB; Kraemer KH
    J Invest Dermatol; 2000 Dec; 115(6):974-80. PubMed ID: 11121128
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.
    Gozukara EM; Khan SG; Metin A; Emmert S; Busch DB; Shahlavi T; Coleman DM; Miller M; Chinsomboon N; Stefanini M; Kraemer KH
    J Invest Dermatol; 2001 Aug; 117(2):197-204. PubMed ID: 11511294
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.
    Emmert S; Slor H; Busch DB; Batko S; Albert RB; Coleman D; Khan SG; Abu-Libdeh B; DiGiovanna JJ; Cunningham BB; Lee MM; Crollick J; Inui H; Ueda T; Hedayati M; Grossman L; Shahlavi T; Cleaver JE; Kraemer KH
    J Invest Dermatol; 2002 Jun; 118(6):972-82. PubMed ID: 12060391
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.
    Khan SG; Levy HL; Legerski R; Quackenbush E; Reardon JT; Emmert S; Sancar A; Li L; Schneider TD; Cleaver JE; Kraemer KH
    J Invest Dermatol; 1998 Nov; 111(5):791-6. PubMed ID: 9804340
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Identification of a novel protein truncating mutation p.Asp98* in XPC associated with xeroderma pigmentosum in a consanguineous Pakistani family.
    Ali MZ; Blatterer J; Khan MA; Schaflinger E; Petek E; Ahmad S; Khan E; Windpassinger C
    Mol Genet Genomic Med; 2020 Feb; 8(2):e1060. PubMed ID: 31923348
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.
    Schäfer A; Hofmann L; Gratchev A; Laspe P; Schubert S; Schürer A; Ohlenbusch A; Tzvetkov M; Hallermann C; Reichrath J; Schön MP; Emmert S
    Exp Dermatol; 2013 Jan; 22(1):24-9. PubMed ID: 23173980
    [TBL] [Abstract][Full Text] [Related]  

  • 8. DNA repair and ultraviolet mutagenesis in cells from a new patient with xeroderma pigmentosum group G and cockayne syndrome resemble xeroderma pigmentosum cells.
    Moriwaki S; Stefanini M; Lehmann AR; Hoeijmakers JH; Robbins JH; Rapin I; Botta E; Tanganelli B; Vermeulen W; Broughton BC; Kraemer KH
    J Invest Dermatol; 1996 Oct; 107(4):647-53. PubMed ID: 8823375
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F.
    Yagi T; Tatsumi-Miyajima J; Sato M; Kraemer KH; Takebe H
    Cancer Res; 1991 Jun; 51(12):3177-82. PubMed ID: 2039995
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
    Khan SG; Metin A; Gozukara E; Inui H; Shahlavi T; Muniz-Medina V; Baker CC; Ueda T; Aiken JR; Schneider TD; Kraemer KH
    Hum Mol Genet; 2004 Feb; 13(3):343-52. PubMed ID: 14662655
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
    Khan SG; Oh KS; Shahlavi T; Ueda T; Busch DB; Inui H; Emmert S; Imoto K; Muniz-Medina V; Baker CC; DiGiovanna JJ; Schmidt D; Khadavi A; Metin A; Gozukara E; Slor H; Sarasin A; Kraemer KH
    Carcinogenesis; 2006 Jan; 27(1):84-94. PubMed ID: 16081512
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A unique chromosomal in-frame deletion identified among seven XP-C patients.
    Schubert S; Rieper P; Ohlenbusch A; Seebode C; Lehmann J; Gratchev A; Emmert S
    Photodermatol Photoimmunol Photomed; 2016 Sep; 32(5-6):276-283. PubMed ID: 27387384
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.
    Doubaj Y; Smaili W; Laarabi FZ; Sefiani A
    J Med Case Rep; 2017 Jun; 11(1):158. PubMed ID: 28615033
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
    Broughton BC; Thompson AF; Harcourt SA; Vermeulen W; Hoeijmakers JH; Botta E; Stefanini M; King MD; Weber CA; Cole J
    Am J Hum Genet; 1995 Jan; 56(1):167-74. PubMed ID: 7825573
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Expression of a transfected DNA repair gene (XPA) in xeroderma pigmentosum group A cells restores normal DNA repair and mutagenesis of UV-treated plasmids.
    Levy DD; Saijo M; Tanaka K; Kraemer KH
    Carcinogenesis; 1995 Jul; 16(7):1557-63. PubMed ID: 7614689
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.
    Chavanne F; Broughton BC; Pietra D; Nardo T; Browitt A; Lehmann AR; Stefanini M
    Cancer Res; 2000 Apr; 60(7):1974-82. PubMed ID: 10766188
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage.
    Nishigori C; Fujisawa H; Uyeno K; Kawaguchi T; Takebe H
    Photodermatol Photoimmunol Photomed; 1991 Aug; 8(4):146-50. PubMed ID: 1814424
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism.
    Khan SG; Metter EJ; Tarone RE; Bohr VA; Grossman L; Hedayati M; Bale SJ; Emmert S; Kraemer KH
    Carcinogenesis; 2000 Oct; 21(10):1821-5. PubMed ID: 11023539
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant.
    Gu Y; Chang X; Dai S; Song Q; Zhao H; Lei P
    Gene; 2017 Sep; 628():162-169. PubMed ID: 28669926
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.