497 related articles for article (PubMed ID: 27004399)
1. Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.
Calmels N; Greff G; Obringer C; Kempf N; Gasnier C; Tarabeux J; Miguet M; Baujat G; Bessis D; Bretones P; Cavau A; Digeon B; Doco-Fenzy M; Doray B; Feillet F; Gardeazabal J; Gener B; Julia S; Llano-Rivas I; Mazur A; Michot C; Renaldo-Robin F; Rossi M; Sabouraud P; Keren B; Depienne C; Muller J; Mandel JL; Laugel V
Orphanet J Rare Dis; 2016 Mar; 11():26. PubMed ID: 27004399
[TBL] [Abstract][Full Text] [Related]
2. Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling.
Baer S; Obringer C; Julia S; Chelly J; Capri Y; Gras D; Baujat G; Felix TM; Doray B; Sanchez Del Pozo J; Ramos LM; Burglen L; Laugel V; Calmels N
Clin Genet; 2020 Sep; 98(3):251-260. PubMed ID: 32557569
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
Graham JM; Anyane-Yeboa K; Raams A; Appeldoorn E; Kleijer WJ; Garritsen VH; Busch D; Edersheim TG; Jaspers NG
Am J Hum Genet; 2001 Aug; 69(2):291-300. PubMed ID: 11443545
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. [The metabolic and molecular bases of Cockayne syndrome].
Flores-Alvarado LJ; Ramirez-Garcia SA; Núñez-Reveles NY
Rev Invest Clin; 2010; 62(5):480-90. PubMed ID: 21416736
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.
Armelini MG; Muotri AR; Marchetto MC; de Lima-Bessa KM; Sarasin A; Menck CF
Cancer Gene Ther; 2005 Apr; 12(4):389-96. PubMed ID: 15650764
[TBL] [Abstract][Full Text] [Related]
14. Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein.
Iyer N; Reagan MS; Wu KJ; Canagarajah B; Friedberg EC
Biochemistry; 1996 Feb; 35(7):2157-67. PubMed ID: 8652557
[TBL] [Abstract][Full Text] [Related]
15. Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.
Schäfer A; Gratchev A; Seebode C; Hofmann L; Schubert S; Laspe P; Apel A; Ohlenbusch A; Tzvetkov M; Weishaupt C; Oji V; Schön MP; Emmert S
Exp Dermatol; 2013 Jul; 22(7):486-9. PubMed ID: 23800062
[TBL] [Abstract][Full Text] [Related]
16. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology.
Jaarsma D; van der Pluijm I; de Waard MC; Haasdijk ED; Brandt R; Vermeij M; Rijksen Y; Maas A; van Steeg H; Hoeijmakers JH; van der Horst GT
PLoS Genet; 2011 Dec; 7(12):e1002405. PubMed ID: 22174697
[TBL] [Abstract][Full Text] [Related]
17. Xeroderma pigmentosum and related disorders: defects in DNA repair and transcription.
Berneburg M; Lehmann AR
Adv Genet; 2001; 43():71-102. PubMed ID: 11037299
[TBL] [Abstract][Full Text] [Related]
18. The rem mutations in the ATP-binding groove of the Rad3/XPD helicase lead to Xeroderma pigmentosum-Cockayne syndrome-like phenotypes.
Herrera-Moyano E; Moriel-Carretero M; Montelone BA; Aguilera A
PLoS Genet; 2014 Dec; 10(12):e1004859. PubMed ID: 25500814
[TBL] [Abstract][Full Text] [Related]
19. Codominance associated with overexpression of certain XPD mutations.
Kadkhodayan S; Coin F; Salazar EP; George JW; Egly JM; Thompson LH
Mutat Res; 2001 Mar; 485(2):153-68. PubMed ID: 11182546
[TBL] [Abstract][Full Text] [Related]
20. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
de Boer J; van Steeg H; Berg RJ; Garssen J; de Wit J; van Oostrum CT; Beems RB; van der Horst GT; van Kreijl CF; de Gruijl FR; Bootsma D; Hoeijmakers JH; Weeda G
Cancer Res; 1999 Jul; 59(14):3489-94. PubMed ID: 10416615
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
