These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

331 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.