180 related articles for article (PubMed ID: 19477635)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Molecular analysis of DNA polymerase eta gene in Japanese patients diagnosed as xeroderma pigmentosum variant type.
Tanioka M; Masaki T; Ono R; Nagano T; Otoshi-Honda E; Matsumura Y; Takigawa M; Inui H; Miyachi Y; Moriwaki S; Nishigori C
J Invest Dermatol; 2007 Jul; 127(7):1745-51. PubMed ID: 17344931
[TBL] [Abstract][Full Text] [Related]
7. [Genetic counseling and DNA testing in patients with increased risks for malignant melanoma].
Itin PH; Fistarol SK
Ther Umsch; 2003 Aug; 60(8):469-72. PubMed ID: 14502854
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Requirement for functional DNA polymerase eta in genome-wide repair of UV-induced DNA damage during S phase.
Auclair Y; Rouget R; Belisle JM; Costantino S; Drobetsky EA
DNA Repair (Amst); 2010 Jul; 9(7):754-64. PubMed ID: 20457011
[TBL] [Abstract][Full Text] [Related]
10. Association between DNA repair-deficiency and high level of p53 mutations in melanoma of Xeroderma pigmentosum.
Spatz A; Giglia-Mari G; Benhamou S; Sarasin A
Cancer Res; 2001 Mar; 61(6):2480-6. PubMed ID: 11289118
[TBL] [Abstract][Full Text] [Related]
11. Identification of Three Human POLH Germline Variants Defective in Complementing the UV- and Cisplatin-Sensitivity of POLH-Deficient Cells.
Yeom M; Hong JK; Shin JH; Lee Y; Guengerich FP; Choi JY
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982269
[TBL] [Abstract][Full Text] [Related]
12. The human POLH gene is not mutated, and is expressed in a cohort of patients with basal or squamous cell carcinoma of the skin.
Flanagan AM; Rafferty G; O'Neill A; Rynne L; Kelly J; McCann J; Carty MP
Int J Mol Med; 2007 Apr; 19(4):589-96. PubMed ID: 17334634
[TBL] [Abstract][Full Text] [Related]
13. DNA polymerase eta, the product of the xeroderma pigmentosum variant gene and a target of p53, modulates the DNA damage checkpoint and p53 activation.
Liu G; Chen X
Mol Cell Biol; 2006 Feb; 26(4):1398-413. PubMed ID: 16449651
[TBL] [Abstract][Full Text] [Related]
14. Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early-onset dementia.
Soares IFZ; Christofolini DM; Silva LG; Feder D; de Siqueira Carvalho AA
Mol Genet Genomic Med; 2020 Nov; 8(11):e1491. PubMed ID: 32935933
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.
Brambullo T; Colonna MR; Vindigni V; Piaserico S; Masciopinto G; Galeano M; Costa AL; Bassetto F
Biomed Res Int; 2022; 2022():8549532. PubMed ID: 35898688
[TBL] [Abstract][Full Text] [Related]
18. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
Nan H; Kraft P; Hunter DJ; Han J
Int J Cancer; 2009 Aug; 125(4):909-17. PubMed ID: 19384953
[TBL] [Abstract][Full Text] [Related]
19. Spotlight on 'xeroderma pigmentosum'.
Fassihi H
Photochem Photobiol Sci; 2013 Jan; 12(1):78-84. PubMed ID: 23132518
[TBL] [Abstract][Full Text] [Related]
20. Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case-control study.
Blankenburg S; König IR; Moessner R; Laspe P; Thoms KM; Krueger U; Khan SG; Westphal G; Berking C; Volkenandt M; Reich K; Neumann C; Ziegler A; Kraemer KH; Emmert S
Carcinogenesis; 2005 Jun; 26(6):1085-90. PubMed ID: 15731165
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]