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ERCC6
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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
ERCC6
gene.
Beerens N, Hoeijmakers JH, Kanaar R, Vermeulen W, Wyman C. The CSB protein actively wraps DNA. J Biol Chem. 2005 Feb 11;280(6):4722-9. Epub 2004 Nov 16.
PubMed citation
Colella S, Nardo T, Botta E, Lehmann AR, Stefanini M. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. Hum Mol Genet. 2000 May 1;9(8):1171-5.
PubMed citation
Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G, Lehmann AR, Stefanini M. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. Hum Mol Genet. 1999 May;8(5):935-41.
PubMed citation
Entrez
Gene
Greenhaw GA, Hebert A, Duke-Woodside ME, Butler IJ, Hecht JT, Cleaver JE, Thomas GH, Horton WA. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. Am J Hum Genet. 1992 Apr;50(4):677-89.
PubMed citation
Horibata K, Iwamoto Y, Kuraoka I, Jaspers NG, Kurimasa A, Oshimura M, Ichihashi M, Tanaka K. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome. Proc Natl Acad Sci U S A. 2004 Oct 26;101(43):15410-5. Epub 2004 Oct 14.
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.
PubMed citation
Licht CL, Stevnsner T, Bohr VA. Cockayne syndrome group B cellular and biochemical functions. Am J Hum Genet. 2003 Dec;73(6):1217-39. Epub 2003 Nov 24. Review.
PubMed citation
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. Am J Hum Genet. 1998 Jan;62(1):77-85. Erratum in: Am J Hum Genet 1999 May;64(5):1491.
PubMed citation
Newman JC, Bailey AD, Weiner AM. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. Proc Natl Acad Sci U S A. 2006 Jun 20;103(25):9613-8. Epub 2006 Jun 13.
PubMed citation
Proietti-De-Santis L, Drané P, Egly JM. Cockayne syndrome B protein regulates the transcriptional program after UV irradiation. EMBO J. 2006 May 3;25(9):1915-23. Epub 2006 Apr 6.
PubMed citation
van den Boom V, Citterio E, Hoogstraten D, Zotter A, Egly JM, van Cappellen WA, Hoeijmakers JH, Houtsmuller AB, Vermeulen W. DNA damage stabilizes interaction of CSB with the transcription elongation machinery. J Cell Biol. 2004 Jul 5;166(1):27-36. Epub 2004 Jun 28.
PubMed citation
Reviewed: May 2010
Published: May 21, 2012