| 1 | CKN1, ERCC8
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| Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion.
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| Ting TW, Brett MS, Tan ES, Shen Y, Lee SP, Lim EC, Vasanwala RF, Lek N, Thomas T, Lim KW, Tan EC.
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| Gene ene. 2015 Jul 22. pii: S0378-1119(15)00906-3. doi: 10.1016/j.gene.2015.07.065. [Epub ahead of print]
2015
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| 2 | CKN1, ERCC8
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| Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth.
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| Koch S, Garcia Gonzalez O, Assfalg R, Schelling A, Schäfer P, Scharffetter-Kochanek K, Iben S.
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| Cell Cycle 13(13):2029-37. doi: 10.4161/cc.29018. Epub 2014 Apr 29.
2014
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| 3 | CKN1, CSB, ERCC6, ERCC8
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| The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
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| Saijo M.
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| Mech Ageing Dev 134(5-6):196-201. doi: 10.1016/j.mad.2013.03.008. Epub 2013 Apr 6. Review.
2013
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| 4 | CKN1, CSB, ERCC6, ERCC8
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| Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
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| 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, Muņoz 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.
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| Hum Mutat 31(2):113-26. doi: 10.1002/humu.21154.
2010
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| 5 | CKN1, CSB, TTDA, XPB, XPD, XPG
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| Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
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| Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
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| Neuroscience 145(4):1388-96. Epub 2007 Feb 1. Review.
2007
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| 6 | ERCC8, CKN1
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| Cockayne syndrome type A: novel mutations in eight typical patients.
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| Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA.
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| J Hum Genet 51(8):701-5. Epub 2006 Jul 25. 2006
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| 7 | CKN1, ERCC8
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| A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.
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| Komatsu A, Suzuki S, Inagaki T, Yamashita K, Hashizume K.
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| Am J Med Genet 128A(1):67-71. 2004
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| 8 | CKN1, COPS8, DDB2, XPE, ERCC8
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| The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.
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| Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y.
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| Cell 113(3):357-67. 2003
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| 9 | ERCC6, CKN1, SMARCA4, ERCC8
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| Cockayne syndrome group B cellular and biochemical functions.
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| Licht CL, Stevnsner T, Bohr VA.
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| Am J Hum Genet 73(6):1217-39. Epub 2003 Nov 24. Review. 2003
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| 10 | CKN1, GTF2H1, GTF2H2, GTF2H3, GTF2H4, XPD
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| Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.
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| Broughton BC, Berneburg M, Fawcett H, Taylor EM, Arlett CF, Nardo T, Stefanini M, Menefee E, Price VH, Queille S, Sarasin A, Bohnert E, Krutmann J, Davidson R, Kraemer KH, Lehmann AR.
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| Hum Mol Genet 10(22):2539-47. 2001
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| 11 | CKN1, CSB, XPA, XPB, XPC, XPD, XPE, XPF, XPG, ERCC8, ERCC6
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| A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
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| Cleaver JE, et al.
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| Hum Mutat 14(1):9-22. 1999
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| 12 | CKN1, ERCC8
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| Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
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| McDaniel LD, Legerski R, Lehmann AR, Friedberg EC, Schultz RA.
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| Hum Mutat 10(4):317-21. 1997
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| 13 | CKN1, CSB, ERCC8, ERCC8
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| The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex.
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| van Gool AJ, Citterio E, Rademakers S, van Os R, Vermeulen W, Constantinou A, Egly JM, Bootsma D, Hoeijmakers JH.
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| EMBO J 16(19):5955-65. 1997
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| 14 | ERCC6, CKN1, ERCC8
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| Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.
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| Itoh T, et al.
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| Mutat Res 362 : 167-174. 1996
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| 15 | CKN1, ERCC8
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| The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
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| Henning KA, et al.
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| Cell 82(4):555-64. 1995
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| 16 | CKN1, ERCC8
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| Genetic defects in Xeroderma pigmentosum and Cockayne syndrome.
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| Bootsma D, et al.
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| Am J Hum Genet 49S : 60. 1991
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| 17 | CKN1, ERCC8, CSB, ERCC6
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| The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.
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| Venema J, et al.
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| Proc Natl Acad Sci U S A 87 : 4707-4711. 1990
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