237 related articles for article (PubMed ID: 30165384)
1. Repair protein persistence at DNA lesions characterizes XPF defect with Cockayne syndrome features.
Sabatella M; Theil AF; Ribeiro-Silva C; Slyskova J; Thijssen K; Voskamp C; Lans H; Vermeulen W
Nucleic Acids Res; 2018 Oct; 46(18):9563-9577. PubMed ID: 30165384
[TBL] [Abstract][Full Text] [Related]
2. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.
Kashiyama K; Nakazawa Y; Pilz DT; Guo C; Shimada M; Sasaki K; Fawcett H; Wing JF; Lewin SO; Carr L; Li TS; Yoshiura K; Utani A; Hirano A; Yamashita S; Greenblatt D; Nardo T; Stefanini M; McGibbon D; Sarkany R; Fassihi H; Takahashi Y; Nagayama Y; Mitsutake N; Lehmann AR; Ogi T
Am J Hum Genet; 2013 May; 92(5):807-19. PubMed ID: 23623389
[TBL] [Abstract][Full Text] [Related]
3. Mislocalization of XPF-ERCC1 nuclease contributes to reduced DNA repair in XP-F patients.
Ahmad A; Enzlin JH; Bhagwat NR; Wijgers N; Raams A; Appledoorn E; Theil AF; J Hoeijmakers JH; Vermeulen W; J Jaspers NG; Schärer OD; Niedernhofer LJ
PLoS Genet; 2010 Mar; 6(3):e1000871. PubMed ID: 20221251
[TBL] [Abstract][Full Text] [Related]
4. ERCC1-XPF targeting to psoralen-DNA crosslinks depends on XPA and FANCD2.
Sabatella M; Pines A; Slyskova J; Vermeulen W; Lans H
Cell Mol Life Sci; 2020 May; 77(10):2005-2016. PubMed ID: 31392348
[TBL] [Abstract][Full Text] [Related]
5. The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex.
Faridounnia M; Wienk H; Kovačič L; Folkers GE; Jaspers NG; Kaptein R; Hoeijmakers JH; Boelens R
J Biol Chem; 2015 Aug; 290(33):20541-55. PubMed ID: 26085086
[TBL] [Abstract][Full Text] [Related]
6. Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.
Cooper PK; Nouspikel T; Clarkson SG; Leadon SA
Science; 1997 Feb; 275(5302):990-3. PubMed ID: 9020084
[TBL] [Abstract][Full Text] [Related]
7. Cryo-EM structures of the XPF-ERCC1 endonuclease reveal how DNA-junction engagement disrupts an auto-inhibited conformation.
Jones M; Beuron F; Borg A; Nans A; Earl CP; Briggs DC; Snijders AP; Bowles M; Morris EP; Linch M; McDonald NQ
Nat Commun; 2020 Feb; 11(1):1120. PubMed ID: 32111838
[TBL] [Abstract][Full Text] [Related]
8. Human XPG nuclease structure, assembly, and activities with insights for neurodegeneration and cancer from pathogenic mutations.
Tsutakawa SE; Sarker AH; Ng C; Arvai AS; Shin DS; Shih B; Jiang S; Thwin AC; Tsai MS; Willcox A; Her MZ; Trego KS; Raetz AG; Rosenberg D; Bacolla A; Hammel M; Griffith JD; Cooper PK; Tainer JA
Proc Natl Acad Sci U S A; 2020 Jun; 117(25):14127-14138. PubMed ID: 32522879
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.
Soltys DT; Rocha CR; Lerner LK; de Souza TA; Munford V; Cabral F; Nardo T; Stefanini M; Sarasin A; Cabral-Neto JB; Menck CF
Hum Mutat; 2013 Mar; 34(3):481-9. PubMed ID: 23255472
[TBL] [Abstract][Full Text] [Related]
11. Heterogeneity and overlaps in nucleotide excision repair disorders.
Ferri D; Orioli D; Botta E
Clin Genet; 2020 Jan; 97(1):12-24. PubMed ID: 30919937
[TBL] [Abstract][Full Text] [Related]
12. Physical interaction between SLX4 (FANCP) and XPF (FANCQ) proteins and biological consequences of interaction-defective missense mutations.
Hashimoto K; Wada K; Matsumoto K; Moriya M
DNA Repair (Amst); 2015 Nov; 35():48-54. PubMed ID: 26453996
[TBL] [Abstract][Full Text] [Related]
13. Lack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.
Zhu Q; Wani G; Sharma N; Wani A
DNA Repair (Amst); 2012 Dec; 11(12):942-50. PubMed ID: 23083890
[TBL] [Abstract][Full Text] [Related]
14. Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Oh KS; Khan SG; Jaspers NG; Raams A; Ueda T; Lehmann A; Friedmann PS; Emmert S; Gratchev A; Lachlan K; Lucassan A; Baker CC; Kraemer KH
Hum Mutat; 2006 Nov; 27(11):1092-103. PubMed ID: 16947863
[TBL] [Abstract][Full Text] [Related]
15. 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
[TBL] [Abstract][Full Text] [Related]
16. Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Kraemer KH; Patronas NJ; Schiffmann R; Brooks BP; Tamura D; DiGiovanna JJ
Neuroscience; 2007 Apr; 145(4):1388-96. PubMed ID: 17276014
[TBL] [Abstract][Full Text] [Related]
17. Xeroderma pigmentosum and molecular cloning of DNA repair genes.
Boulikas T
Anticancer Res; 1996; 16(2):693-708. PubMed ID: 8687116
[TBL] [Abstract][Full Text] [Related]
18. ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients.
Apelt K; White SM; Kim HS; Yeo JE; Kragten A; Wondergem AP; Rooimans MA; González-Prieto R; Wiegant WW; Lunke S; Flanagan D; Pantaleo S; Quinlan C; Hardikar W; van Attikum H; Vertegaal ACO; Wilson BT; Wolthuis RMF; Schärer OD; Luijsterburg MS
J Exp Med; 2021 Mar; 218(3):. PubMed ID: 33315086
[TBL] [Abstract][Full Text] [Related]
19. Functional Comparison of XPF Missense Mutations Associated to Multiple DNA Repair Disorders.
Marín M; Ramírez MJ; Carmona MA; Jia N; Ogi T; Bogliolo M; Surrallés J
Genes (Basel); 2019 Jan; 10(1):. PubMed ID: 30658521
[TBL] [Abstract][Full Text] [Related]
20. ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.
Mori T; Yousefzadeh MJ; Faridounnia M; Chong JX; Hisama FM; Hudgins L; Mercado G; Wade EA; Barghouthy AS; Lee L; Martin GM; Nickerson DA; Bamshad MJ; ; Niedernhofer LJ; Oshima J
Hum Mutat; 2018 Feb; 39(2):255-265. PubMed ID: 29105242
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]