BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

379 related articles for article (PubMed ID: 17079196)

  • 1. 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]  

  • 2. 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]  

  • 3. High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.
    Ben Rekaya M; Messaoud O; Talmoudi F; Nouira S; Ouragini H; Amouri A; Boussen H; Boubaker S; Mokni M; Mokthar I; Abdelhak S; Zghal M
    J Hum Genet; 2009 Jul; 54(7):426-9. PubMed ID: 19478817
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.
    States JC; McDuffie ER; Myrand SP; McDowell M; Cleaver JE
    Hum Mutat; 1998; 12(2):103-13. PubMed ID: 9671271
    [TBL] [Abstract][Full Text] [Related]  

  • 5. XPA A23G, XPC Lys939Gln, XPD Lys751Gln and XPD Asp312Asn polymorphisms, interactions with smoking, alcohol and dietary factors, and risk of colorectal cancer.
    Hansen RD; Sørensen M; Tjønneland A; Overvad K; Wallin H; Raaschou-Nielsen O; Vogel U
    Mutat Res; 2007 Jun; 619(1-2):68-80. PubMed ID: 17363013
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.
    Messaoud O; Ben Rekaya M; Cherif W; Talmoudi F; Boussen H; Mokhtar I; Boubaker S; Amouri A; Abdelhak S; Zghal M
    Int J Dermatol; 2010 May; 49(5):544-8. PubMed ID: 20534089
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal.
    Espi P; Parajuli S; Benfodda M; Lebre AS; Paudel U; Grange A; Grybek V; Grange T; Soufir N; Grange F
    J Eur Acad Dermatol Venereol; 2018 May; 32(5):832-839. PubMed ID: 29178624
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Validation of XP-C pathogenic variations in archival material from a live XP patient.
    McDaniel LD; Rivera-Begeman A; Doughty AT; Schultz RA; Friedberg EC
    DNA Repair (Amst); 2007 Jan; 6(1):115-20. PubMed ID: 17084680
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.
    Bensenouci S; Louhibi L; De Verneuil H; Mahmoudi K; Saidi-Mehtar N
    Biomed Res Int; 2016; 2016():2180946. PubMed ID: 27413738
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A new XPC gene splicing mutation has lead to the highest worldwide prevalence of xeroderma pigmentosum in black Mahori patients.
    Cartault F; Nava C; Malbrunot AC; Munier P; Hebert JC; N'guyen P; Djeridi N; Pariaud P; Pariaud J; Dupuy A; Austerlitz F; Sarasin A
    DNA Repair (Amst); 2011 Jun; 10(6):577-85. PubMed ID: 21482201
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.
    Kobayashi T; Uchiyama M; Fukuro S; Tanaka K
    Am J Med Genet; 2002 Jul; 110(3):248-52. PubMed ID: 12116233
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Diagnosing xeroderma pigmentosum group C by immunohistochemistry.
    de Feraudy S; Boubakour-Azzouz I; Fraitag S; Berneburg M; Chan L; Chew K; Clericuzio CL; Cunningham B; Tope WD; Cleaver JE
    Am J Dermatopathol; 2010 Apr; 32(2):109-17. PubMed ID: 19915453
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Combinations of polymorphisms in XPD, XPC and XPA in relation to risk of lung cancer.
    Vogel U; Overvad K; Wallin H; Tjønneland A; Nexø BA; Raaschou-Nielsen O
    Cancer Lett; 2005 May; 222(1):67-74. PubMed ID: 15837542
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mouse models for xeroderma pigmentosum group A and group C show divergent cancer phenotypes.
    Melis JP; Wijnhoven SW; Beems RB; Roodbergen M; van den Berg J; Moon H; Friedberg E; van der Horst GT; Hoeijmakers JH; Vijg J; van Steeg H
    Cancer Res; 2008 Mar; 68(5):1347-53. PubMed ID: 18316597
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.
    Amr K; Messaoud O; El Darouti M; Abdelhak S; El-Kamah G
    Gene; 2014 Jan; 533(1):52-6. PubMed ID: 24135642
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
    Zeng L; Quilliet X; Chevallier-Lagente O; Eveno E; Sarasin A; Mezzina M
    Gene Ther; 1997 Oct; 4(10):1077-84. PubMed ID: 9415314
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Polymorphisms of the DNA repair gene XPA and XPC and its correlation with gastric cardiac adenocarcinoma in a high incidence population in North China.
    Dong Z; Guo W; Zhou R; Wan L; Li Y; Wang N; Kuang G; Wang S
    J Clin Gastroenterol; 2008 Sep; 42(8):910-5. PubMed ID: 18645534
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 19.