Citations for
1CKN1, ERCC8
Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion.
Ting TW, Brett MS, Tan ES, Shen Y, Lee SP, Lim EC, Vasanwala RF, Lek N, Thomas T, Lim KW, Tan EC.
Gene ene. 2015 Jul 22. pii: S0378-1119(15)00906-3. doi: 10.1016/j.gene.2015.07.065. [Epub ahead of print] 2015
2CKN1, ERCC8
Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth.
Koch S, Garcia Gonzalez O, Assfalg R, Schelling A, Schäfer P, Scharffetter-Kochanek K, Iben S.
Cell Cycle 13(13):2029-37. doi: 10.4161/cc.29018. Epub 2014 Apr 29. 2014
3ERCC6, ERCC8
The role of CSA and CSB protein in the oxidative stress response.
D'Errico M, Pascucci B, Iorio E, Van Houten B, Dogliotti E.
Mech Ageing Dev 134(5-6):261-9. doi: 10.1016/j.mad.2013.03.006. Epub 2013 Apr 3. Review. 2013
4ERCC6, ERCC8
Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations.
Kamenisch Y, Berneburg M.
Mech Ageing Dev 134(5-6):270-4. doi: 10.1016/j.mad.2013.03.005. Epub 2013 Apr 3. Review. 2013
5CKN1, CSB, ERCC6, ERCC8
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M.
Mech Ageing Dev 134(5-6):196-201. doi: 10.1016/j.mad.2013.03.008. Epub 2013 Apr 6. Review. 2013
6ERCC6, ERCC8
Repair of oxidatively generated DNA damage in Cockayne syndrome.
Khobta A, Epe B.
Mech Ageing Dev 134(5-6):253-60. doi: 10.1016/j.mad.2013.03.001. Epub 2013 Mar 18. Review. 2013
7ERCC8
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M.
Mech Ageing Dev 134(5-6):196-201. doi: 10.1016/j.mad.2013.03.008. Epub 2013 Apr 6. Review. 2013
8ERCC8, UVSSA
KIAA1530 protein is recruited by Cockayne syndrome complementation group protein A (CSA) to participate in transcription-coupled repair (TCR).
Fei J, Chen J.
J Biol Chem 287(42):35118-26. doi: 10.1074/jbc.M112.398131. Epub 2012 Aug 17. 2012
9ERCC6, ERCC8
CSA and CSB proteins interact with p53 and regulate its Mdm2-dependent ubiquitination.
Latini P, Frontini M, Caputo M, Gregan J, Cipak L, Filippi S, Kumar V, Vélez-Cruz R, Stefanini M, Proietti-De-Santis L.
Cell Cycle 10(21):3719-30. doi: 10.4161/cc.10.21.17905. Epub 2011 Nov 1. 2011
10ERCC6, ERCC8
A ubiquitin-binding domain in Cockayne syndrome B required for transcription-coupled nucleotide excision repair.
Anindya R, Mari PO, Kristensen U, Kool H, Giglia-Mari G, Mullenders LH, Fousteri M, Vermeulen W, Egly JM, Svejstrup JQ.
Mol Cell 38(5):637-48. doi: 10.1016/j.molcel.2010.04.017. 2010
11CKN1, CSB, ERCC6, ERCC8
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 31(2):113-26. doi: 10.1002/humu.21154. 2010
12DEL5QO, ELOVL7, ERCC8, NDUFAF2
Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.
Janssen RJ, Distelmaier F, Smeets R, Wijnhoven T, Østergaard E, Jaspers NG, Raams A, Kemp S, Rodenburg RJ, Willems PH, van den Heuvel LP, Smeitink JA, Nijtmans LG.
Hum Mol Genet 18(18):3365-74. Epub 2009 Jun 12.PMID: 19525295 2009
13CHAF1A, ERCC8, HEL308
Comprehensive analysis of DNA repair gene variants and risk of meningioma.
Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, L�nn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A, Houlston R.
J Natl Cancer Inst 100(4):270-6. Epub 2008 Feb 12. 2008
14ERCC8, CKN1
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR, Cao H, Albano LM, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA.
J Hum Genet 51(8):701-5. Epub 2006 Jul 25. 2006
15ERCC6, ERCC8
Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.
Fousteri M, Vermeulen W, van Zeeland AA, Mullenders LH.
Mol Cell 23(4):471-82. 2006
16CKN1, ERCC8
A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene.
Komatsu A, Suzuki S, Inagaki T, Yamashita K, Hashizume K.
Am J Med Genet 128A(1):67-71. 2004
17CKN1, COPS8, DDB2, XPE, ERCC8
The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage.
Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, Kisselev AF, Tanaka K, Nakatani Y.
Cell 113(3):357-67. 2003
18ERCC6, CKN1, SMARCA4, ERCC8
Cockayne syndrome group B cellular and biochemical functions.
Licht CL, Stevnsner T, Bohr VA.
Am J Hum Genet 73(6):1217-39. Epub 2003 Nov 24. Review. 2003
19ERCC8
Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair.
Kamiuchi S, Saijo M, Citterio E, de Jager M, Hoeijmakers JH, Tanaka K.
Proc Natl Acad Sci U S A 99(1):201-6. 2002
20XAB2, XPA, ERCC8
XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription.
Nakatsu Y, Asahina H, Citterio E, Rademakers S, Vermeulen W, Kamiuchi S,Yeo JP, Khaw MC, Saijo M, Kodo N, Matsuda T, Hoeijmakers JH, Tanaka K.
J Biol Chem 275(45):34931-7. 2000
21CKN1, CSB, XPA, XPB, XPC, XPD, XPE, XPF, XPG, ERCC8, ERCC6
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE, et al.
Hum Mutat 14(1):9-22. 1999
22D5S678, D5S635, D5S630, D5S655, D5S502, D5S477, D5S426, D5S407, D5S427, DLGAP1, ERCC8, BTF3
Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome.
Wang DG, et al.
Science 280(5366):1077-82. 1998
23CKN1, ERCC8
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
McDaniel LD, Legerski R, Lehmann AR, Friedberg EC, Schultz RA.
Hum Mutat 10(4):317-21. 1997
24CKN1, CSB, ERCC8, ERCC8
The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex.
van Gool AJ, Citterio E, Rademakers S, van Os R, Vermeulen W, Constantinou A, Egly JM, Bootsma D, Hoeijmakers JH.
EMBO J 16(19):5955-65. 1997
25ERCC6, CKN1, ERCC8
Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.
Itoh T, et al.
Mutat Res 362 : 167-174. 1996
26CKN1, ERCC8
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Henning KA, et al.
Cell 82(4):555-64. 1995
27CKN1, ERCC8
Genetic defects in Xeroderma pigmentosum and Cockayne syndrome.
Bootsma D, et al.
Am J Hum Genet 49S : 60. 1991
28CKN1, ERCC8, CSB, ERCC6
The genetic defect in Cockayne syndrome is associated with a defect in repair of UV-induced DNA damage in transcriptionally active DNA.
Venema J, et al.
Proc Natl Acad Sci U S A 87 : 4707-4711. 1990