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Journal Abstract Search

239 related items for PubMed ID: 16081512

  • 1. 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
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  • 2. 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 01; 13(3):343-52. PubMed ID: 14662655
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  • 3. 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 01; 22(1):24-9. PubMed ID: 23173980
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  • 4. A prevalent mutation with founder effect in xeroderma pigmentosum group C from north Africa.
    Soufir N, Ged C, Bourillon A, Austerlitz F, Chemin C, Stary A, Armier J, Pham D, Khadir K, Roume J, Hadj-Rabia S, Bouadjar B, Taieb A, de Verneuil H, Benchiki H, Grandchamp B, Sarasin A.
    J Invest Dermatol; 2010 Jun 01; 130(6):1537-42. PubMed ID: 20054342
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  • 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 Jun 01; 2016():2180946. PubMed ID: 27413738
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  • 13. 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 04; 6(1):100-14. PubMed ID: 17079196
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  • 14. 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 04; 111(5):791-6. PubMed ID: 9804340
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  • 15. 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 04; 115(6):974-80. PubMed ID: 11121128
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  • 16. XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.
    Khan SG, Yamanegi K, Zheng ZM, Boyle J, Imoto K, Oh KS, Baker CC, Gozukara E, Metin A, Kraemer KH.
    Hum Mutat; 2010 Feb 04; 31(2):167-75. PubMed ID: 19953607
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  • 17. 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 01; 533(1):52-6. PubMed ID: 24135642
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  • 18. Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.
    Doubaj Y, Laarabi FZ, Elalaoui SC, Barkat A, Sefiani A.
    J Dermatol; 2012 Apr 01; 39(4):382-4. PubMed ID: 22211393
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  • 19. XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms.
    Khan SG, Oh KS, Emmert S, Imoto K, Tamura D, Digiovanna JJ, Shahlavi T, Armstrong N, Baker CC, Neuburg M, Zalewski C, Brewer C, Wiggs E, Schiffmann R, Kraemer KH.
    DNA Repair (Amst); 2009 Jan 01; 8(1):114-25. PubMed ID: 18955168
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