Terms: = Skin cancer AND ERCC2, TTD, 2068, ENSG00000104884, COFS2, P18074, MGC102762, XPD, MGC126219, MGC126218, EM9
171 results:
1. Genetic Polymorphisms of XPC, xpd, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck cancer Patients: A Hospital Based Study from Maharashtra.
Gudur AK; Kale SR; Gudur RA; Bhosale SJ; Datkhile KD
Asian Pac J Cancer Prev; 2024 Jan; 25(1):191-199. PubMed ID: 38285784
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2. Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
Theil AF; Pines A; Kalayci T; Heredia-Genestar JM; Raams A; Rietveld MH; Sridharan S; Tanis SE; Mulder KW; Büyükbabani N; Karaman B; Uyguner ZO; Kayserili H; Hoeijmakers JH; Lans H; Demmers JA; Pothof J; Altunoglu U; El Ghalbzouri A; Vermeulen W
EMBO Mol Med; 2023 Nov; 15(11):e17973. PubMed ID: 37800682
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3. Codelivery of ercc2 small interfering RNA and cisplatin with macrophage-derived mimetic nanovesicles for enhanced bladder cancer treatment.
Zhou Q; Wu H; Miao F; Cao Y; Liang L; Huang J; Qian Z
Anticancer Drugs; 2023 Oct; 34(9):1046-1057. PubMed ID: 37578814
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4. Real-World Evaluation of the Management, Treatment Pathways and Outcome of Melanoma Patients with Target Therapies in Italy.
Marcon IG; Valsecchi D; Durso L; Premoli E; Sangiorgi D; Perrone V; Catena L; Degli Esposti L
Adv Ther; 2023 Sep; 40(9):3875-3895. PubMed ID: 37368101
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5. Periocular Microcystic Adnexal Carcinoma: A Case Report and a Major Review.
Cheung J; Rabinowitz MP; Tuluc M; Milman T
Ophthalmic Plast Reconstr Surg; 2023 Nov-Dec 01; 39(6):533-541. PubMed ID: 37279021
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6. Investigating the impact of tumor location and size on the risk of recurrence for papillary thyroid carcinoma in the isthmus.
Zhu F; Li F; Xie X; Wu Y; Wang W
Cancer Med; 2023 Jun; 12(12):13290-13299. PubMed ID: 37132252
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7. The concomitant use of proton pump inhibitors and BRAF/MEK inhibitors in metastatic melanoma.
Poizeau F; Balusson F; Lemaitre F; Tron C; Pracht M; Russo D; Dinulescu M; Lesimple T; Oger E; Dupuy A
Br J Dermatol; 2023 Mar; 188(4):482-490. PubMed ID: 36760148
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8. Debilitating hip degeneration in trichothiodystrophy: Association with ercc2/xpd mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis.
DiGiovanna JJ; Randall G; Edelman A; Allawh R; Xiong M; Tamura D; Khan SG; Rizza ERH; Reynolds JC; Paul SM; Hill SC; Kraemer KH
Am J Med Genet A; 2022 Dec; 188(12):3448-3462. PubMed ID: 36103153
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9. Establishment of a human induced pluripotent stem cell line, KMUGMCi003-A, from a patient with trichothiodystrophy 1 (ttd1) bearing compound heterozygous missense mutations in the ercc2 gene.
Ura H; Togi S; Hatanaka H; Niida Y
Stem Cell Res; 2022 Oct; 64():102885. PubMed ID: 35944311
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10. 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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11. Association of polymorphisms in nucleotide excision repair pathway genes with susceptibility to cutaneous melanoma.
Hashemzehi A; Ghadyani M; Asadian F; Dastgheib SA; Kargar S; Neamatzadeh H; Akbarian E; Emarati A
Klin Onkol; 2021; 34(5):350-355. PubMed ID: 34702042
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12. 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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13. Metronidazole-Induced Hepatitis in a Teenager With Xeroderma Pigmentosum and Trichothiodystrophy Overlap.
Abiona A; Cordeiro N; Fawcett H; Tamura D; Khan SG; DiGiovanna JJ; Lehmann AR; Fassihi H
Pediatrics; 2021 Oct; 148(4):. PubMed ID: 34593652
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14. Cutaneous Melanoma: Mutational Status and Potential Links to Tertiary Lymphoid Structure Formation.
Salem D; Chelvanambi M; Storkus WJ; Fecek RJ
Front Immunol; 2021; 12():629519. PubMed ID: 33746966
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15. Expansion of the clinical and molecular spectrum of an xpd-related disorder linked to biallelic mutations in ercc2 gene.
Agolini E; Botta E; Lodi M; Digilio MC; Rinelli M; Bellacchio E; Alesi V; Nardo T; Zambruno G; Orioli D; Alessi I; Boccuto L; Rossi S; Carai A; Colafati GS; Cacchione A; Dallapiccola B; Novelli A; Mastronuzzi A
Clin Genet; 2021 Jun; 99(6):842-848. PubMed ID: 33733458
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16. Echis carinatus snake venom metalloprotease-induced toxicities in mice: Therapeutic intervention by a repurposed drug, Tetraethyl thiuram disulfide (Disulfiram).
Rudresha GV; Urs AP; Manjuprasanna VN; Milan Gowda MD; Jayachandra K; Rajaiah R; Vishwanath BS
PLoS Negl Trop Dis; 2021 Feb; 15(2):e0008596. PubMed ID: 33529194
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17. Identification of prognostic alternative splicing signatures in uveal melanoma.
Xie X; Zheng X; Xie T; Cai J; Yao Y
Int Ophthalmol; 2021 Apr; 41(4):1347-1362. PubMed ID: 33479809
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18. 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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19. 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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20. Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM; Castro LP; Neto JPD; de Nóbrega AF; Pinto CAL; Ashton-Prolla P; Pinto E Vairo F; de Medeiros PFV; Ribeiro EM; Ribeiro BFR; do Valle FF; Doriqui MJR; Leite CHB; Rocha RM; Moura LMS; Munford V; Galante PAF; Menck CFM; Rogatto SR; Achatz MI
J Eur Acad Dermatol Venereol; 2020 Oct; 34(10):2392-2401. PubMed ID: 32239545
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