BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

316 related articles for article (PubMed ID: 31923348)

  • 1. 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]  

  • 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. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect.
    Ijaz A; Basit S; Gul A; Batool L; Hussain A; Afzal S; Ramzan K; Ahmad J; Wali A
    Congenit Anom (Kyoto); 2019 Jan; 59(1):18-21. PubMed ID: 29569758
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
    Nawal W; Ullah A; Ullah U; Farrakh K; Ahmad F; Khan H; Ahmad GS; Khan B; Ansar M; Kalsoom UE; Ahmad W
    Klin Padiatr; 2022 May; 234(3):123-129. PubMed ID: 34544175
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 130(6):1537-42. PubMed ID: 20054342
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 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. [Novel mutations of XPC gene detected in a family affected with xeroderma pigmentosum group C].
    Wang L; Huang S; Li J; Zou Y; Xu P; Gao M; Kang R; Xie H; Wei X; Niu Y; Liu X; Gao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):540-543. PubMed ID: 30098252
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.
    Senhaji MA; Abidi O; Nadifi S; Benchikhi H; Khadir K; Ben Rekaya M; Eloualid A; Messaoud O; Abdelhak S; Barakat A
    Arch Dermatol Res; 2013 Jan; 305(1):53-57. PubMed ID: 23143338
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.