188 related articles for article (PubMed ID: 32557569)
41. A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.
Nouspikel T; Lalle P; Leadon SA; Cooper PK; Clarkson SG
Proc Natl Acad Sci U S A; 1997 Apr; 94(7):3116-21. PubMed ID: 9096355
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6.
Falik-Zaccai TC; Laskar M; Kfir N; Nasser W; Slor H; Khayat M
Am J Med Genet A; 2008 Jun; 146A(11):1423-9. PubMed ID: 18446857
[TBL] [Abstract][Full Text] [Related]
44. Polymorphisms of nucleotide excision repair genes predict melanoma survival.
Li C; Yin M; Wang LE; Amos CI; Zhu D; Lee JE; Gershenwald JE; Grimm EA; Wei Q
J Invest Dermatol; 2013 Jul; 133(7):1813-21. PubMed ID: 23407396
[TBL] [Abstract][Full Text] [Related]
45. [Trichothiodystrophies: anomalies of the repair and transcription of genes].
Robert C; Sarasin A
Ann Dermatol Venereol; 1999 Oct; 126(10):669-71. PubMed ID: 10604001
[No Abstract] [Full Text] [Related]
46. Novel missense mutations in a conserved loop between ERCC6 (CSB) helicase motifs V and VI: Insights into Cockayne syndrome.
Wilson BT; Lochan A; Stark Z; Sutton RE
Am J Med Genet A; 2016 Mar; 170(3):773-6. PubMed ID: 26749132
[TBL] [Abstract][Full Text] [Related]
47. TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.
Winkler GS; Araújo SJ; Fiedler U; Vermeulen W; Coin F; Egly JM; Hoeijmakers JH; Wood RD; Timmers HT; Weeda G
J Biol Chem; 2000 Feb; 275(6):4258-66. PubMed ID: 10660593
[TBL] [Abstract][Full Text] [Related]
48. Novel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature review.
Kou Y; Shboul M; Wang Z; Shersheer Q; Lyu Z; Liu P; Zhao X; Tian J
Medicine (Baltimore); 2018 Aug; 97(33):e11636. PubMed ID: 30113454
[TBL] [Abstract][Full Text] [Related]
49. Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Broughton BC; Thompson AF; Harcourt SA; Vermeulen W; Hoeijmakers JH; Botta E; Stefanini M; King MD; Weber CA; Cole J
Am J Hum Genet; 1995 Jan; 56(1):167-74. PubMed ID: 7825573
[TBL] [Abstract][Full Text] [Related]
50. Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.
Zafeiriou DI; Thorel F; Andreou A; Kleijer WJ; Raams A; Garritsen VH; Gombakis N; Jaspers NG; Clarkson SG
Pediatr Res; 2001 Mar; 49(3):407-12. PubMed ID: 11228268
[TBL] [Abstract][Full Text] [Related]
51. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes.
Murai M; Enokido Y; Inamura N; Yoshino M; Nakatsu Y; van der Horst GT; Hoeijmakers JH; Tanaka K; Hatanaka H
Proc Natl Acad Sci U S A; 2001 Nov; 98(23):13379-84. PubMed ID: 11687625
[TBL] [Abstract][Full Text] [Related]
52. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V; Dalloz C; Durand M; Sauvanaud F; Kristensen U; Vincent MC; Pasquier L; Odent S; Cormier-Daire V; Gener B; Tobias ES; Tolmie JL; Martin-Coignard D; Drouin-Garraud V; Heron D; Journel H; Raffo E; Vigneron J; Lyonnet S; Murday V; Gubser-Mercati D; Funalot B; Brueton L; Sanchez Del Pozo J; Muñoz E; Gennery AR; Salih M; Noruzinia M; Prescott K; Ramos L; Stark Z; Fieggen K; Chabrol B; Sarda P; Edery P; Bloch-Zupan A; Fawcett H; Pham D; Egly JM; Lehmann AR; Sarasin A; Dollfus H
Hum Mutat; 2010 Feb; 31(2):113-26. PubMed ID: 19894250
[TBL] [Abstract][Full Text] [Related]
53. Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome.
Gitiaux C; Blin-Rochemaure N; Hully M; Echaniz-Laguna A; Calmels N; Bahi-Buisson N; Desguerre I; Dabaj I; Wehbi S; Quijano-Roy S; Laugel V
Clin Neurophysiol; 2015 Jul; 126(7):1435-9. PubMed ID: 25453614
[TBL] [Abstract][Full Text] [Related]
54. 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]
55. Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China.
Shen M; Berndt SI; Rothman N; Demarini DM; Mumford JL; He X; Bonner MR; Tian L; Yeager M; Welch R; Chanock S; Zheng T; Caporaso N; Lan Q
Int J Cancer; 2005 Sep; 116(5):768-73. PubMed ID: 15849729
[TBL] [Abstract][Full Text] [Related]
56. Cancer in xeroderma pigmentosum and related disorders of DNA repair.
Cleaver JE
Nat Rev Cancer; 2005 Jul; 5(7):564-73. PubMed ID: 16069818
[TBL] [Abstract][Full Text] [Related]
57. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Weeda G; Eveno E; Donker I; Vermeulen W; Chevallier-Lagente O; Taïeb A; Stary A; Hoeijmakers JH; Mezzina M; Sarasin A
Am J Hum Genet; 1997 Feb; 60(2):320-9. PubMed ID: 9012405
[TBL] [Abstract][Full Text] [Related]
58. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.
Vermeulen W; Scott RJ; Rodgers S; Müller HJ; Cole J; Arlett CF; Kleijer WJ; Bootsma D; Hoeijmakers JH; Weeda G
Am J Hum Genet; 1994 Feb; 54(2):191-200. PubMed ID: 8304337
[TBL] [Abstract][Full Text] [Related]
59. XPG: a multitasking genome caretaker.
Muniesa-Vargas A; Theil AF; Ribeiro-Silva C; Vermeulen W; Lans H
Cell Mol Life Sci; 2022 Mar; 79(3):166. PubMed ID: 35230528
[TBL] [Abstract][Full Text] [Related]
60. 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]
[Previous] [Next] [New Search]