Terms: = Skin cancer AND XPA, XPAC, 7507, ENSG00000136936, XP1, P23025
129 results:
1. A disease-associated xpa allele interferes with TFIIH binding and primarily affects transcription-coupled nucleotide excision repair.
van den Heuvel D; Kim M; Wondergem AP; van der Meer PJ; Witkamp M; Lambregtse F; Kim HS; Kan F; Apelt K; Kragten A; González-Prieto R; Vertegaal ACO; Yeo JE; Kim BG; van Doorn R; Schärer OD; Luijsterburg MS
Proc Natl Acad Sci U S A; 2023 Mar; 120(11):e2208860120. PubMed ID: 36893274
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2. Homozygous CRISPR/Cas9 Knockout Generated a Novel Functionally Active Exon 1 Skipping xpa Variant in Melanoma Cells.
Banicka V; Martens MC; Panzer R; Schrama D; Emmert S; Boeckmann L; Thiem A
Int J Mol Sci; 2022 Oct; 23(19):. PubMed ID: 36232946
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3. Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD
Cordts I; Önder D; Traschütz A; Kobeleva X; Karin I; Minnerop M; Koertvelyessy P; Biskup S; Forchhammer S; Binder J; Tzschach A; Meiss F; Schmidt A; Kreiß M; Cremer K; Mensah MA; Park J; Rautenberg M; Deininger N; Sturm M; Lingor P; Klopstock T; Weiler M; Marxreiter F; Synofzik M; Posch C; Sirokay J; Klockgether T; Haack TB; Deschauer M
Mov Disord; 2022 Aug; 37(8):1707-1718. PubMed ID: 35699229
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4. Multiple pilomatricomas in a child with xeroderma pigmentosum: Coincidence or association?
Palacios-Diaz RD; Navarro-Mira MÁ; Ballester-Sánchez R; Calle-Andrino A; de Unamuno-Bustos B; Botella-Estrada R
Pediatr Dermatol; 2022 May; 39(3):478-480. PubMed ID: 35178751
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5. Differences in peripheral neuropathy in xeroderma pigmentosum complementation groups A and D as evaluated by nerve conduction studies.
Lehky TJ; Sackstein P; Tamura D; Quezado M; Wu T; Khan SG; Patronas NJ; Wiggs E; Brewer CC; DiGiovanna JJ; Kraemer KH
BMC Neurol; 2021 Oct; 21(1):393. PubMed ID: 34627174
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6. Molecular analysis directs the prognosis, management and treatment of patients with xeroderma pigmentosum.
Lehmann AR; Fassihi H
DNA Repair (Amst); 2020 Sep; 93():102907. PubMed ID: 33087273
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7. 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
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8. Sunlight, Vitamin D, and Xeroderma Pigmentosum.
Martens MC; Emmert S; Boeckmann L
Adv Exp Med Biol; 2020; 1268():319-331. PubMed ID: 32918226
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9. xpa deficiency affects the ubiquitin-proteasome system function.
de Sousa Leal AM; de Azevedo Medeiros LB; Muñoz-Cadavid CO; de Paula Oliveira R; de Souza Timóteo AR; de Oliveira AHS; Luis Fonseca Faustino A; da Silva VL; de Souza SJ; Braz Petta Lajus T; de Melo Campos JTA; Agnez-Lima LF
DNA Repair (Amst); 2020 Oct; 94():102937. PubMed ID: 32693352
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10. 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
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11. Novel mutation identified in the DDB2 gene in patients with xeroderma pigmentosum group-E.
Karagün E; Eroz R; Gamsızkan M; Baysak S; Eyup Y; Ozcan Y
Int J Dermatol; 2020 Aug; 59(8):989-996. PubMed ID: 32530099
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12. Identification of a novel DDB2 mutation in a Chinese Han family with Xeroderma pigmentosum group E:a case report and literature review.
Yang R; Kong Q; Duan Y; Li W; Sang H
BMC Med Genet; 2020 Mar; 21(1):67. PubMed ID: 32228487
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13. Analysis of somatic mutations identifies signs of selection during in vitro aging of primary dermal fibroblasts.
Narisu N; Rothwell R; Vrtačnik P; Rodríguez S; Didion J; Zöllner S; Erdos MR; Collins FS; Eriksson M
Aging Cell; 2019 Dec; 18(6):e13010. PubMed ID: 31385397
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14. [Xeroderma Pigmentosum].
Nishigori C
Brain Nerve; 2019 Apr; 71(4):394-399. PubMed ID: 30988228
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15. Increased risk of skin cancer in Japanese heterozygotes of xeroderma pigmentosum group A.
Hirai Y; Noda A; Kodama Y; Cordova KA; Cullings HM; Yonehara S; Fujihara M; Moriwaki SI; Nishigori C; Mabuchi K; Kraemer KH; Nakamura N
J Hum Genet; 2018 Nov; 63(11):1181-1184. PubMed ID: 30089811
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16. 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
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17. CXCL1 Inhibition Regulates UVB-Induced skin Inflammation and Tumorigenesis in xpa-Deficient Mice.
Kunisada M; Hosaka C; Takemori C; Nakano E; Nishigori C
J Invest Dermatol; 2017 Sep; 137(9):1975-1983. PubMed ID: 28528167
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18. Association study of genetic variation in DNA repair pathway genes and risk of basal cell carcinoma.
Lin Y; Chahal HS; Wu W; Cho HG; Ransohoff KJ; Song F; Tang JY; Sarin KY; Han J
Int J Cancer; 2017 Sep; 141(5):952-957. PubMed ID: 28510302
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19. Impact of the Circadian Clock on UV-Induced DNA Damage Response and Photocarcinogenesis.
Dakup P; Gaddameedhi S
Photochem Photobiol; 2017 Jan; 93(1):296-303. PubMed ID: 27861965
[TBL] [Abstract] [Full Text] [Related]
20. Transcriptional and Posttranslational Regulation of Nucleotide Excision Repair: The Guardian of the Genome against Ultraviolet Radiation.
Park JM; Kang TH
Int J Mol Sci; 2016 Nov; 17(11):. PubMed ID: 27827925
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