| 1 | CKN1, 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
|
| 2 | CKN1, 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
|
| 3 | ERCC6, 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
|
| 4 | ERCC6, 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
|
| 5 | CKN1, 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
|
| 6 | ERCC6, 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
|
| 7 | 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
|
| 8 | ERCC8, 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
|
| 9 | ERCC6, 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
|
| 10 | ERCC6, 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
|
| 11 | CKN1, 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
|
| 12 | DEL5QO, 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
|
| 13 | CHAF1A, 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
|
| 14 | ERCC8, 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
|
| 15 | ERCC6, 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
|
| 16 | CKN1, 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
|
| 17 | CKN1, 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
|
| 18 | ERCC6, 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
|
| 19 | ERCC8
|
| 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
|
| 20 | XAB2, 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
|
| 21 | CKN1, 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
|
| 22 | D5S678, 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
|
| 23 | CKN1, 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
|
| 24 | CKN1, 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
|
| 25 | ERCC6, CKN1, ERCC8
|
| Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.
|
| Itoh T, et al.
|
| Mutat Res 362 : 167-174. 1996
|
| 26 | CKN1, 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
|
| 27 | CKN1, ERCC8
|
| Genetic defects in Xeroderma pigmentosum and Cockayne syndrome.
|
| Bootsma D, et al.
|
| Am J Hum Genet 49S : 60. 1991
|
| 28 | CKN1, 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
|