BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

199 related articles for article (PubMed ID: 28669926)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. [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]  

  • 8. 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; 8(1):114-25. PubMed ID: 18955168
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Readthrough of stop codons by use of aminoglycosides in cells from xeroderma pigmentosum group C patients.
    Kuschal C; Khan SG; Enk B; DiGiovanna JJ; Kraemer KH
    Exp Dermatol; 2015 Apr; 24(4):296-7. PubMed ID: 25651777
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
    Kuschal C; DiGiovanna JJ; Khan SG; Gatti RA; Kraemer KH
    Proc Natl Acad Sci U S A; 2013 Nov; 110(48):19483-8. PubMed ID: 24218596
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Centrin 2 stimulates nucleotide excision repair by interacting with xeroderma pigmentosum group C protein.
    Nishi R; Okuda Y; Watanabe E; Mori T; Iwai S; Masutani C; Sugasawa K; Hanaoka F
    Mol Cell Biol; 2005 Jul; 25(13):5664-74. PubMed ID: 15964821
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Atypical Clinical Presentation of Xeroderma Pigmentosum in a Patient Harboring a Novel Missense Mutation in the XPC Gene: The Importance of Clinical Suspicion.
    Meneses M; Chavez-Bourgeois M; Badenas C; Villablanca S; Aguilera P; Bennàssar A; Alos L; Puig S; Malvehy J; Carrera C
    Dermatology; 2015; 231(3):217-21. PubMed ID: 26278556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel missense variant and multiexon deletion causing a delayed presentation of xeroderma pigmentosum, group C.
    Macke EL; Morales-Rosado JA; Gupta A; Schmitz CT; Kruisselbrink T; Lanpher B; Klee EW
    Cold Spring Harb Mol Case Stud; 2020 Aug; 6(4):. PubMed ID: 32843428
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 10.