Keywords: CS، سکته Cockayne; A-T, ataxia-telangiectasia; AD, Alexander disease; CDG-Ia, congenital disorder of glycosylation type Ia; CMD1A, congenital muscular dystrophy type 1A; CS, Cockayne syndrome; FRDA, Friedreich ataxia; H-ABC, hypomyelination with atrophy of the basal ganglia
مقالات ISI CS، سکته Cockayne (ترجمه نشده)
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Human DNA repair disorders in dermatology: A historical perspective, current concepts and new insight
Keywords: CS، سکته Cockayne; BER, base excision repair; COFS, cerebro–oculo–facio-skeletal syndrome; CPD, cyclobutane pyrimidine dimers; CS, Cockayne syndrome; FA, Fanconi anemia; GG-NER, global genome repair; NER, nucleotide excision repair; 6–4 PP, pyrimidine (6–4) pyrimidone photo
Cockayne Syndrome due to a maternally-inherited whole gene deletion of ERCC8 and a paternally-inherited ERCC8 exon 4 deletion
Keywords: CS، سکته Cockayne; CS, Cockayne Syndrome; CMA, chromosomal microarray; MLPA, Multiplex ligation-dependant Probe AmplificationCockayne syndrome; Neurological regression; Growth failure
The ERCC1 and ERCC4 (XPF) genes and gene products
Keywords: CS، سکته Cockayne; AP, apurinic/apyrimidinic; ATP, adenosine triphosphate; cDNA, complementary deoxyribonucleic acid; CHO, Chinese hamster ovary; COFS, cerebro-oculo-facio-skeletal syndrome; CS, Cockayne syndrome; DSB, double strand break; FA, Fanconi anemia; GG-NER, global
An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients
Keywords: CS، سکته Cockayne; acet, acetate; ala, alanine; ANOVA, analysis of variance; asp, asparagine; BER, base excision repair; BSO, buthionine sulphoximine; CAT, catalase; Cho, choline; CPD, cyclobutane pyrimidine dimers; CS, cockayne syndrome; CPH, 1-hydroxy-3-carboxy-2,2,5,5-te
Distinct and overlapping functions of the cullin E3 ligase scaffolding proteins CUL4A and CUL4B
Keywords: CS، سکته Cockayne; 6-4PP, 6-4 photoproduct; BMC, bone marrow cell; Cdk, cyclin-dependent kinase; CPD, cyclopyrimidine dimer; CPT, camptothecin; CRBN, Cereblon; CRL4, cullin RING ligase; CS, Cockayne syndrome; CSN, COP9 signalosome; CUL4A, cullin 4A; CUL4B, cullin 4B; DCAF,
Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum
Keywords: CS، سکته Cockayne; XP, xeroderma pigmentosum; UV, ultraviolet; NER, nucleotide excision repair; TLS, translesion synthesis; nsSNPs, non-synonymous single nucleotide polymorphisms; TCR, transcription coupled repair; GGR, global genome repair; CS, Cockayne syndrome; HNPCC, he
Mitochondrial CSA and CSB: Protein interactions and protection from ageing associated DNA mutations
Keywords: CS، سکته Cockayne; BER, base excision repair; CS, Cockayne syndrome; DSB, double strand breaks; HR, homologous recombination; hOGG1, human 8-oxo guaninegylcosylase1; mt, mitochondria; NER, nucleotide excision repair; NHEJ, non homologous end joining; ROS, reactive oxygen sp
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair
Keywords: CS، سکته Cockayne; CRL4, DDB1-Cul4A-Roc1 complex; CS, Cockayne syndrome; CSN, COP9 signalosome; Cul4A, cullin 4A; DCAF, DDB1 Cul4 associated factor; GG-NER, global genome nucleotide excision repair; HLH, helix-loop-helix; NER, nucleotide excision repair; Pol II, polymerase
From laboratory tests to functional characterisation of Cockayne syndrome
Keywords: CS، سکته Cockayne; BER, base excision repair; CPD, cyclobutane pyrimidine dimers; CS, Cockayne syndrome; GGR, global genome repair; mtDNA, mitochondrial DNA; NER, nucleotide excision repair; 8-OH-Gua, 8-hydroxyguanine; RNApol, RNA polymerase; ROS, reactive oxygen species; R
Xeroderma pigmentosum and other diseases of human premature aging and DNA repair: Molecules to patients
Keywords: CS، سکته Cockayne; BER, base excision repair; CS, Cockayne syndrome; COFS, cerebro-oculo-facial-skeletal syndrome; GFAP, glial acidic filament protein; HMG, high mobility group; MBP, myelin basic protein; NER, nucleotide excision repair; ROS, reactive oxygen species; RNS, r
Multiple roles of ubiquitination in the control of nucleotide excision repair
Keywords: CS، سکته Cockayne; (6-4)PP, (6-4)pyrimidine-pyrimidone photoproduct; CAK, cyclin-activated kinase; CPD, cyclobutane pyrimidine dimer; CS, Cockayne syndrome; CSN, COP9 signalosome; DAR, domain-associated repair; NER, nucleotide excision repair; RNAPII, RNA polymerase II; TCR
Physiological consequences of defects in ERCC1–XPF DNA repair endonuclease
Keywords: CS، سکته Cockayne; CS, Cockayne syndrome; COFS, cerebro-oculo-facio-skeletal syndrome; CPD, cyclopyrimidine dimer; CSR, class switch recombination; DSB, double-strand break; ERCC1, excision repair cross complementation group 1; HR, homologous recombination; ICL, interstrand
Trichothiodystrophy: From basic mechanisms to clinical implications
Keywords: CS، سکته Cockayne; aa, aminoacid; CAK, cdk-activating kinase; Cdk, cyclin-dependent kinase; CR, caloric restriction; CS, Cockayne syndrome; CTD, carboxy-terminal domain; ERα, estrogen receptor α; GH, growth hormone; IGF-1, insulin growth factor 1; NER, nucleotide excision r
Defective repair of 5-hydroxy-2′-deoxycytidine in Cockayne syndrome cells and its complementation by Escherichia coli formamidopyrimidine DNA glycosylase and endonuclease III
Keywords: CS، سکته Cockayne; CS, Cockayne syndrome; dC, 2′-deoxycytidine; EGFP, enhanced green fluorescent protein; FapyAde, 4,6-diamino-5-formamidopyrimidine; FapyGua, 2,6-diamino-4-hydroxy-5-formamidopyrimidine; FPG, formamidopyrimidine DNA glycosylase; HPLC/ED, high performance li
Chromatin restoration following nucleotide excision repair involves the incorporation of ubiquitinated H2A at damaged genomic sites
Keywords: CS، سکته Cockayne; 6-4PP, (6-4) pyrimidine-pyrimidone photoproducts; CAF-1, chromatin assembly factor 1; CPD, cyclobutane pyrimidine dimers; CS, Cockayne syndrome; DDB, damaged DNA-binding protein; γH2AX, phosphorylated histone H2AX; GGR, global genomic repair; NER, nucleot
Nucleic Acid Binding Activity of Human Cockayne Syndrome B Protein and Identification of Ca2+ as a Novel Metal Cofactor
Keywords: CS، سکته Cockayne; CS, Cockayne syndrome; XP, xeroderma pigmentosum; SF2, Superfamily 2; TC, transcription coupled; NER, nucleotide excision repair; BER, base excision repair; dsDNA, double-stranded DNA; BSA, bovine serum albumin; EMSA, electrophoretic mobility-shift analys
Neuropathology of Cockayne syndrome: Evidence for impaired development, premature aging, and neurodegeneration
Keywords: CS، سکته Cockayne; AGS, Aicardi–Goutières syndrome; CMV, cytomegalovirus; COFS, cerebro-oculo-facial-skeletal syndrome (also Pena-Shokeir and Lowry syndromes); CS, Cockayne syndrome; CSF, cerebrospinal fluid; DNA, deoxyribonucleic acid; GGR, global genomic repair; HGPS, Hut
The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging
Keywords: CS، سکته Cockayne; APE1, apurinic/apyrimidinic endonuclease 1; BER, base excision repair; CNS, central nervous system; CPD, cyclobutane pyrimidine dimers; CS, Cockayne Syndrome; CSA, Cockayne Syndrome complementation group A; CSB, Cockayne Syndrome complementation group B;
Truncated Cockayne Syndrome B Protein Represses Elongation by RNA Polymerase I
Keywords: CS، سکته Cockayne; CSB, Cockayne syndrome B; CS, Cockayne syndrome; Pol I, polymerase I; Pol II, polymerase II; Pol III, polymerase III; TCR, transcription-coupled repair; ChIP, chromatin immunoprecipitation; UVs, UV-sensitive; GAPDH, glyceraldehyde-3-phosphate dehydrogenas
Nucleotide excision repair and the degradation of RNA pol II by the Caenorhabditis elegans XPA and Rsp5 orthologues, RAD-3 and WWP-1
Keywords: CS، سکته Cockayne; AMA-1, C. elegans large subunit RNA polymerase; C. elegans, Caenorhabditis elegans; CS, Cockayne syndrome; DDR, DNA damage response; NER, nucleotide excision repair; ROS, reactive oxygen species; UV, ultraviolet; XP, xeroderma pigmentosumxpa-1; rad-3; Rsp
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome
Keywords: CS، سکته Cockayne; AP, abasic; BER, DNA base excision repair; CNS, central nervous system; CS, Cockayne syndrome; CSN, COP9 signalosome complex; ES, embryonic stem; FPG, Escherichia coli formamidopyrimidine DNA glycosylase; hOGG1, human 8-oxoGua DNA glycosylase; HPLC-ED, hi
Xeroderma pigmentosum group E and DDB2, a smaller subunit of damage-specific DNA binding protein: Proposed classification of xeroderma pigmentosum, Cockayne syndrome, and ultraviolet-sensitive syndrome
Keywords: CS، سکته Cockayne; XP, xeroderma pigmentosum; XP-E, xeroderma pigmentosum group E; DDB, damage-specific DNA binding protein; CS, Cockayne syndrome; UVsS, ultraviolet-sensitive syndrome; DMBA, 7,12-dimethylbenz[a]anthraceneDDB; DDB2; XP-E; XP; CS; UVsS; p53; Apoptosis; Skin
Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice
Keywords: CS، سکته Cockayne; NER, nucleotide excision repair; GG-NER, global genome NER; TC-NER, transcription coupled NER; XP, xeroderma pigmentosum; CS, cockayne syndrome; TTD, trichothiodystrophy; ICLR, interstrand crosslink repair; ERCC1, excision repair cross complementing-group