Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome
暂无分享,去创建一个
J. Tolmie | E. Tobias | B. Gener | K. Prescott | A. Gennery | V. Drouin‐Garraud | L. Pasquier | K. Fieggen | S. Lyonnet | Z. Stark | A. Bloch-Zupan | H. Dollfus | A. Lehmann | B. Funalot | J. Egly | L. Brueton | V. Cormier-Daire | A. Sarasin | V. Laugel | M. Salih | V. Murday | S. Odent | B. Chabrol | D. Heron | K. Prescott | H. Journel | M. Vincent | D. Martin‐Coignard | P. Edery | P. Sarda | E. Raffo | M. Salih | J. Vigneron | D. Gubser-mercati | C. Dalloz | M. Durand | F. Sauvanaud | U. Kristensen | M. Vincent | D. Gubser-Mercati | J. Sánchez del Pozo | E. Muñoz | M. Noruzinia | L. Ramos | H. Fawcett | D. Pham | H. Fawcett | Danièle Pham | Jaqueline Vigneron | Vincent Laugel | Cecile Dalloz | Hans-Ulrik Kristensen | J. S. Pozo
[1] D. Dickson,et al. Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration , 2009, Mechanisms of Ageing and Development.
[2] P. Hanawalt,et al. A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage , 2009, Proceedings of the National Academy of Sciences.
[3] G. Novelli,et al. Prenatal diagnosis of Cockayne syndrome type A based on the identification of two novel mutations in the ERCC8 gene. , 2009, Genetic testing and molecular biomarkers.
[4] M. Frontini,et al. CSB protein is (a direct target of HIF‐1 and) a critical mediator of the hypoxic response , 2008, The EMBO journal.
[5] H. Ihn,et al. Adult-onset neurological degeneration in a patient with Cockayne syndrome and a null mutation in the CSB gene. , 2008, The Journal of investigative dermatology.
[6] M. Khayat,et al. Cockayne syndrome type II in a Druze isolate in Northern Israel in association with an insertion mutation in ERCC6 , 2008, American journal of medical genetics. Part A.
[7] A. Weiner,et al. An Abundant Evolutionarily Conserved CSB-PiggyBac Fusion Protein Expressed in Cockayne Syndrome , 2008, PLoS genetics.
[8] H. Dollfus,et al. Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome , 2008, European Journal of Human Genetics.
[9] J. Michaelis,et al. Conformational changes of a Swi2/Snf2 ATPase during its mechano-chemical cycle , 2008, Nucleic acids research.
[10] G. Fròsina. The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome. , 2007, Free radical biology & medicine.
[11] I Iavarone,et al. The role of CSA in the response to oxidative DNA damage in human cells , 2007, Oncogene.
[12] David M. Wilson,et al. Cockayne syndrome B protein stimulates apurinic endonuclease 1 activity and protects against agents that introduce base excision repair intermediates , 2007, Nucleic acids research.
[13] L. Kleppa,et al. A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome , 2007, Neuroscience.
[14] Kiyoji Tanaka,et al. Functional TFIIH Is Required for UV-Induced Translocation of CSA to the Nuclear Matrix , 2007, Molecular and Cellular Biology.
[15] N. Jaspers,et al. Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience , 2006, Prenatal diagnosis.
[16] J. Chen,et al. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. , 2006, Molecular cell.
[17] W. Vermeulen,et al. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. , 2006, Molecular cell.
[18] J. Egly,et al. When transcription and repair meet: a complex system. , 2006, Trends in genetics : TIG.
[19] R. Hegele,et al. Cockayne syndrome type A: novel mutations in eight typical patients , 2006, Journal of Human Genetics.
[20] A. Weiner,et al. Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling. , 2006, Proceedings of the National Academy of Sciences of the United States of America.
[21] A. Harel-Bellan,et al. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. , 2006, Genes & development.
[22] J. Egly,et al. Cockayne syndrome B protein regulates the transcriptional program after UV irradiation , 2006, The EMBO journal.
[23] P. Hanawalt,et al. Host cell reactivation of plasmids containing oxidative DNA lesions is defective in Cockayne syndrome but normal in UV-sensitive syndrome fibroblasts. , 2006, DNA repair.
[24] V. Bohr,et al. The Cockayne syndrome group B protein is a functional dimer , 2005, The FEBS journal.
[25] C. Körner,et al. X-Ray Structures of the Sulfolobus solfataricus SWI2/SNF2 ATPase Core and Its Complex with DNA , 2005, Cell.
[26] 堀端 克良. Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome , 2005 .
[27] Christopher J. Jones,et al. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects , 2005, Journal of Human Genetics.
[28] J. Hoeijmakers,et al. The CSB Protein Actively Wraps DNA* , 2005, Journal of Biological Chemistry.
[29] S. Karamanou,et al. Helicase Motif III in SecA is essential for coupling preprotein binding to translocation ATPase , 2004, EMBO reports.
[30] K. Hashizume,et al. A kindred with Cockayne syndrome caused by multiple splicing variants of the CSA gene , 2004, American journal of medical genetics. Part A.
[31] V. Bohr,et al. Cockayne syndrome group B cellular and biochemical functions. , 2003, American journal of human genetics.
[32] Jun-ichi Sawada,et al. The Ubiquitin Ligase Activity in the DDB2 and CSA Complexes Is Differentially Regulated by the COP9 Signalosome in Response to DNA Damage , 2003, Cell.
[33] Mette Christiansen,et al. Functional consequences of mutations in the conserved SF2 motifs and post-translational phosphorylation of the CSB protein. , 2003, Nucleic acids research.
[34] Y. Nakatsu,et al. Three novel mutations responsible for Cockayne syndrome group A. , 2003, Genes & genetic systems.
[35] J. Vonesch,et al. CSB is a component of RNA pol I transcription. , 2002, Molecular cell.
[36] S. Velasco-Miguel,et al. UVB radiation-induced cancer predisposition in Cockayne syndrome group A (Csa) mutant mice. , 2002, DNA repair.
[37] R. Selzer,et al. Phenotypic consequences of mutations in the conserved motifs of the putative helicase domain of the human Cockayne syndrome group B gene. , 2002, Gene.
[38] R. Kingston,et al. ATP-Dependent Chromatin Remodeling by the Cockayne Syndrome B DNA Repair-Transcription-Coupling Factor , 2000, Molecular and Cellular Biology.
[39] A. Weiner,et al. Activation of p53 or loss of the Cockayne syndrome group B repair protein causes metaphase fragility of human U1, U2, and 5S genes. , 2000, Molecular cell.
[40] S. Colella,et al. Identical mutations in the CSB gene associated with either Cockayne syndrome or the DeSanctis-cacchione variant of xeroderma pigmentosum. , 2000, Human molecular genetics.
[41] J. Graham,et al. Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene. , 2000, American journal of human genetics.
[42] C Béroud,et al. UMD (Universal Mutation Database): A generic software to build and analyze locus‐specific databases , 2000, Human mutation.
[43] M. Hall,et al. Helicase motifs: the engine that powers DNA unwinding , 1999, Molecular microbiology.
[44] S. Colella,et al. Alterations in the CSB gene in three Italian patients with the severe form of Cockayne syndrome (CS) but without clinical photosensitivity. , 1999, Human molecular genetics.
[45] A. Kansal,et al. Recruitment of the putative transcription-repair coupling factor CSB/ERCC6 to RNA polymerase II elongation complexes , 1997, Molecular and cellular biology.
[46] A. Sancar,et al. Cockayne syndrome group B protein enhances elongation by RNA polymerase II. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[47] F. Gruijl,et al. Defective Transcription-Coupled Repair in Cockayne Syndrome B Mice Is Associated with Skin Cancer Predisposition , 1997, Cell.
[48] G. Dianov,et al. Reduced RNA polymerase II transcription in intact and permeabilized Cockayne syndrome group B cells. , 1997, Proceedings of the National Academy of Sciences of the United States of America.
[49] A. Lehmann,et al. Genetic analysis of twenty-two patients with Cockayne syndrome , 1996, Human Genetics.
[50] E. Friedberg,et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH , 1995, Cell.
[51] P. Norris,et al. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. , 1993, Journal of medical genetics.
[52] J. Hoeijmakers,et al. Structure and expression of the excision repair gene ERCC6, involved in the human disorder Cockayne's syndrome group B. , 1993, Nucleic acids research.
[53] J. Hoeijmakers,et al. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes , 1992, Cell.
[54] J. Hecht,et al. Xeroderma pigmentosum and Cockayne syndrome: overlapping clinical and biochemical phenotypes. , 1992, American journal of human genetics.
[55] J. Fryns,et al. Apparent late-onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2)). , 1991, American journal of medical genetics.
[56] R. Brumback,et al. Normal pressure hydrocephalus. Recognition and relationship to neurological abnormalities in Cockayne's syndrome. , 1978, Archives of neurology.
[57] J. Trosko,et al. Cockayne syndrome: a cellular sensitivity to ultraviolet light. , 1977, Pediatrics.
[58] Huan‐Xiang Zhou,et al. Predicted structures of two proteins involved in human diseases , 2007, Cell Biochemistry and Biophysics.
[59] R. Hegele,et al. CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism , 2004, Journal of human genetics.
[60] M. Ishikawa,et al. [Normal pressure hydrocephalus]. , 2001, Nihon rinsho. Japanese journal of clinical medicine.
[61] E. Friedberg,et al. Mutation in the CSB gene in a patient with Cerebro-Oculo-Facio-Skeletal syndrome , 2000, Genetics in Medicine.
[62] L. Thompson,et al. A summary of mutations in the UV‐sensitive disorders: Xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy , 1999, Human mutation.
[63] S. Colella,et al. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. , 1998, American journal of human genetics.
[64] E. Friedberg,et al. Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids , 1997, Human mutation.
[65] M. Nance,et al. Cockayne syndrome: review of 140 cases. , 1992, American journal of medical genetics.