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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ERCC8
gene.
Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA. Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet. 2006;51(8):701-5. Epub 2006 Jul 25.
PubMed citation
Cao H, Williams C, Carter M, Hegele RA. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism. J Hum Genet. 2004;49(1):61-3. Epub 2003 Dec 6.
PubMed citation
Dubaele S, Egly JM. Cockayne syndrome, between transcription and DNA repair defects. J Eur Acad Dermatol Venereol. 2002 May;16(3):220-6.
PubMed citation
Entrez
Gene
Kamiuchi S, Saijo M, Citterio E, de Jager M, Hoeijmakers JH, Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. Proc Natl Acad Sci U S A. 2002 Jan 8;99(1):201-6.
PubMed citation
Lainé JP, Egly JM. When transcription and repair meet: a complex system. Trends Genet. 2006 Aug;22(8):430-6. Epub 2006 Jun 23. Review.
PubMed citation
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. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010 Feb;31(2):113-26. doi: 10.1002/humu.21154.
PubMed citation
Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6209-14. doi: 10.1073/pnas.0902113106. Epub 2009 Mar 27.
PubMed citation
Ridley AJ, Colley J, Wynford-Thomas D, Jones CJ. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. J Hum Genet. 2005;50(3):151-4. Epub 2005 Mar 3.
PubMed citation
Spivak G, Hanawalt PC. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. DNA Repair (Amst). 2006 Jan 5;5(1):13-22. Epub 2005 Aug 29.
PubMed citation
van Hoffen A, Balajee AS, van Zeeland AA, Mullenders LH. Nucleotide excision repair and its interplay with transcription. Toxicology. 2003 Nov 15;193(1-2):79-90. Review.
PubMed citation
Reviewed: July 2012
Published: May 20, 2013