BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

140 related articles for article (PubMed ID: 34030998)

  • 1. Xeroderma pigmentosum variant: squamous cell carcinoma of the lower lip harboring exon 11 mutation of POLH.
    Pereira TDSF; Castro LP; Menck CFM; Maia MHT; Souza LL; Fonseca FP; Pontes HAR; Pontes FSC; Gomez RS
    Oral Surg Oral Med Oral Pathol Oral Radiol; 2021 Sep; 132(3):e97-e105. PubMed ID: 34030998
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Rare exon 10 deletion in POLH gene in a family with xeroderma pigmentosum variant correlating with protein expression by immunohistochemistry.
    Borroni RG; Diegoli M; Grasso M; Concardi M; Agozzino M; Vignini M; Arbustini E
    G Ital Dermatol Venereol; 2020 Jun; 155(3):349-354. PubMed ID: 32635709
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
    Opletalova K; Bourillon A; Yang W; Pouvelle C; Armier J; Despras E; Ludovic M; Mateus C; Robert C; Kannouche P; Soufir N; Sarasin A
    Hum Mutat; 2014 Jan; 35(1):117-28. PubMed ID: 24130121
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Recurrent squamous cell carcinoma and a novel mutation in a patient with xeroderma pigmentosum: a case report.
    Şahin EA; Taşkıran EZ; Kiper PÖŞ; Aydın B; Utine E
    J Med Case Rep; 2022 Jul; 16(1):306. PubMed ID: 35902966
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Sunlight, Vitamin D, and Xeroderma Pigmentosum.
    Martens MC; Emmert S; Boeckmann L
    Adv Exp Med Biol; 2020; 1268():319-331. PubMed ID: 32918226
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a novel nonsense mutation in POLH in a Chinese pedigree with xeroderma pigmentosum, variant type.
    Liu X; Zhang X; Qiao J; Fang H
    Int J Med Sci; 2013; 10(6):766-70. PubMed ID: 23630442
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene.
    De Palma A; Morren MA; Ged C; Pouvelle C; Taïeb A; Aoufouchi S; Sarasin A
    Am J Med Genet A; 2017 Sep; 173(9):2511-2516. PubMed ID: 28688171
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of Frameshift Variants in
    Zamani GY; Khan R; Karim N; Ahmed ZM; Naeem M
    Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328096
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A case of lip squamous cell carcinoma with a familial history of Xeroderma pigmentosum.
    Dartaha R; Benmelouka AY; Jobran AWM
    Oral Oncol; 2020 Dec; 111():104896. PubMed ID: 32654871
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Molecular genetics of Xeroderma pigmentosum variant.
    Gratchev A; Strein P; Utikal J; Sergij G
    Exp Dermatol; 2003 Oct; 12(5):529-36. PubMed ID: 14705792
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Spotlight on 'xeroderma pigmentosum'.
    Fassihi H
    Photochem Photobiol Sci; 2013 Jan; 12(1):78-84. PubMed ID: 23132518
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Xeroderma pigmentosum: from symptoms and genetics to gene-based skin therapy.
    Magnaldo T; Sarasin A
    Cells Tissues Organs; 2004; 177(3):189-98. PubMed ID: 15388993
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure.
    Bowden NA; Beveridge NJ; Ashton KA; Baines KJ; Scott RJ
    Int J Mol Sci; 2015 Jul; 16(7):15985-96. PubMed ID: 26184184
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
    Castro LP; Sahbatou M; Kehdy FSG; Farias AA; Yurchenko AA; de Souza TA; Rosa RCA; Mendes-Junior CT; Borda V; Munford V; Zanardo ÉA; Chehimi SN; Kulikowski LD; Aquino MM; Leal TP; Tarazona-Santos E; Chaibub SC; Gener B; Calmels N; Laugel V; Sarasin A; Menck CFM
    Mutat Res Genet Toxicol Environ Mutagen; 2020 Apr; 852():503164. PubMed ID: 32265042
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk.
    Di Lucca J; Guedj M; Lacapère JJ; Fargnoli MC; Bourillon A; Dieudé P; Dupin N; Wolkenstein P; Aegerter P; Saiag P; Descamps V; Lebbe C; Basset-Seguin N; Peris K; Grandchamp B; Soufir N
    Eur J Cancer; 2009 Dec; 45(18):3228-36. PubMed ID: 19477635
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Specific UV-induced mutation spectrum in the p53 gene of skin tumors from DNA-repair-deficient xeroderma pigmentosum patients.
    Dumaz N; Drougard C; Sarasin A; Daya-Grosjean L
    Proc Natl Acad Sci U S A; 1993 Nov; 90(22):10529-33. PubMed ID: 8248141
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Cockayne syndrome and xeroderma pigmentosum.
    Rapin I; Lindenbaum Y; Dickson DW; Kraemer KH; Robbins JH
    Neurology; 2000 Nov; 55(10):1442-9. PubMed ID: 11185579
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
    Boyle J; Ueda T; Oh KS; Imoto K; Tamura D; Jagdeo J; Khan SG; Nadem C; Digiovanna JJ; Kraemer KH
    Hum Mutat; 2008 Oct; 29(10):1194-208. PubMed ID: 18470933
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Replication of damaged DNA: molecular defect in xeroderma pigmentosum variant cells.
    Cordonnier AM; Fuchs RP
    Mutat Res; 1999 Oct; 435(2):111-9. PubMed ID: 10556591
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.