Keywords: سکته Cockayne; Cockayne Syndrome; CSB; ERCC6; Splice site mutation; Metabolomics; Premature aging;
مقالات ISI سکته Cockayne (ترجمه نشده)
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Keywords: سکته Cockayne; Xeroderma pigmentosum; Trichothiodystrophy; Cockayne syndrome; Nucleotide excision repair; Photosensitivity; Neurological abnormalities;
Keywords: سکته Cockayne; Cockayne syndrome; ERCC6/CSB; ERCC8/CSA; Peripheral neuropathy;
Keywords: سکته Cockayne; Cockayne syndrome; Sleep disorders; Melatonin; Immunohistochemistry; Hypothalamus; Acetylcholine
Keywords: سکته Cockayne; AD; Alzheimer's disease; AP site; apurinic/apyrimidinic site; APE1; apurinic/apyrimidinic endonuclease 1; Aβ; amyloid beta; BER; base excision repair; CaMKII; Ca2 +/Calmodulin-Dependent Protein Kinase II; CDK; cyclin-dependent kinase; CREB; cAMP respons
Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state
Keywords: سکته Cockayne; DNA repair; Cockayne syndrome; UV sensitive syndrome; Antisense oligonucleotides; Exon skipping;
Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease
Keywords: سکته Cockayne; DDB-Complex; DDB2; DDB1; Xeroderma Pigmentosum; Molecular dynamics; DNA repair; BPA to BPC; β-Propeller A to C; Co-DDBK244E; Complex DDB1-DDB2K244E; Co-DDBL350P; Complex DDB1-DDB2L350P; Co-DDBR273H; Complex DDB1-DDB2R273H; Co-DDBWT; Complex DDB1-DDB2Wild
Xeroderma Pigmentosum Diagnosis Using a Flow Cytometry-Based Nucleotide Excision Repair Assay
Keywords: سکته Cockayne; 6-4PP; 6-4 pyrimidine-pyrimidone photoproduct; CPD; cyclobutane pyrimidine dimer; CS; Cockayne syndrome; NER; nucleotide excision repair; UDS; unscheduled DNA synthesis; XP; xeroderma pigmentosum; XP-V; xeroderma pigmentosum variant;
Cochlear implantation in pediatric patients with Cockayne Syndrome
Keywords: سکته Cockayne; Cockayne Syndrome; Cochlear implantation; Hearing loss; Sensorineural hearing loss; Pediatric otology;
Analysis of the conserved NER helicases (XPB and XPD) and UV-induced DNA damage in Hydra
Keywords: سکته Cockayne; A; adenine; BER; base excision repair; BLAST; Basic Local Alignment Search Tool; bp; base pairs; C; cytosine; cDNA; DNA complementary to RNA; CS; Cockayne syndrome; CPDs; cyclobutane pyrimidine dimers; DNA; deoxyribonucleic acid; 6-4PPs; Pyrimidine [6-4
Traveling Rocky Roads: The Consequences of Transcription-Blocking DNA Lesions on RNA Polymerase II
Keywords: سکته Cockayne; RNAP2; RNA polymerase II; TBL; transcription-blocking lesion; TCR; transcription-coupled DNA repair; TFIIS; transcription factor IIS; CS; Cockayne syndrome; CSB; Cockayne syndrome B; DUB; de-ubiquitylating enzyme; pVHL; von Hippel-Lindau tumor suppresso
Ct shift: A novel and accurate real-time PCR quantification model for direct comparison of different nucleic acid sequences and its application for transposon quantifications
Keywords: سکته Cockayne; qPCR; quantitative polymerase chain reaction; Ct; threshold cycle; ÎÎCt; comparative Ct; RT-PCR; reverse transcription PCR; PGBD3; PiggyBac derived transposon family member 3; CS; Cockayne syndrome; CSB; Cockayne syndrome B; SB; Sleeping Beauty; Rcor1;
Cockayne syndrome: Clinical features, model systems and pathways
Keywords: سکته Cockayne; Cockayne syndrome; Progeria; Neurodegeneration; Mitochondria; Transcription; Parylation;
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant
Keywords: سکته Cockayne; 6-4PP; (6-4) pyrimidine-pyrimidone photoproduct; CCK-8; Cell Counting Kit-8; CF; cystic fibrosis; CPD; cyclobutane pyrimidine dimer; CS; Cockayne syndrome; DMD; Duchenne muscular dystrophy; ELISA; enzyme-linked immunosorbent assay; GCR; global genomic rep
A C. elegans homolog for the UV-hypersensitivity syndrome disease gene UVSSA
Keywords: سکته Cockayne; bp; base pairs; 6-4 PP; 6-4 photoproduct; cm; centimeter; CPD; cyclobutane pyrimidine dimer; CS; Cockayne syndrome; GG-NER; global-genome nucleotide excision repair; mJ; milli-joule; NER; nucleotide excision repair; NGM; nematode growth medium; nt; nucleo
Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition
Keywords: سکته Cockayne; cerebro-oculo-facial-skeletal syndrome; Cockayne syndrome; nucleotide excision repair; photodermatoses; photosensitivity; trichothiodystrophy; UV-sensitive syndrome; 6-4PP; (6-4) pyrimidine-pyrimidone photoproduct; COFS; cerebro-oculo-facio-skeletal; CS;
The emerging role of deubiquitination in nucleotide excision repair
Keywords: سکته Cockayne; UV; ultraviolet; NER; nucleotide excision repair; TC-NER; transcription coupled NER; GG-NER; global genome NER; XPC; xeroderma pigmentosum complementation group C; UV-DDB DUB; deubiquitinating enzyme; CS; cockayne syndrome; CSA; cockayne syndrome protein
Role of XPD in cellular functions: To TFIIH and beyond
Keywords: سکته Cockayne; ANT2; an adenine nucleotide translocase that exchanges mitochondrial ATP with cytosolic ADP; CDK; cyclin dependent kinase; CAK; CDK-activating kinase complex; CIA; cytoplasmic FeS assembly; CIA01/2; cytosolic iron-sulfur assembly component ½; CS; Cockayn
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient
Keywords: سکته Cockayne; Cockayne syndrome; CSA; autosomal recessive; mutation
MARK-AGE population: From the human model to new insights
Keywords: سکته Cockayne; CS; Cockayne syndrome; DS; Down syndrome; GO; GEHA offspring; RASIG; randomly recruited age-stratified individuals from the general population; SGO; spouses of GO; WS; Werner syndrome; Human ageing; Biomarkers; Recruitment; MARK-AGE population;
Novel germline ERCC5 mutations identified in a xeroderma pigmentosum complementation group G pedigree
Keywords: سکته Cockayne; ERCC5; Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene; nucleotide excision repair; whole exome sequencing; xeroderma pigmentosum complementation group G; CS; Cockayne syndrome; ERCC5; Excision Repair Cross-comple
Quality control mechanisms in cellular and systemic DNA damage responses
Keywords: سکته Cockayne; DNA damage; Ageing; Ubiquitin proteasome system; DNA repair; Progeroid syndromes; Genome stability; ARF; adenosine diphosphate ribosylation factor; AT; ataxia telangiectasia; ATM; ataxia telangiectasia mutated; ATP; adenosine triphosphate; BER; base excis
XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency
Keywords: سکته Cockayne; DNA double-strand break repair; nonhomologous end-joining; double-strand break repair deficiency; XRCC4/LIG4; immunodeficiency; microcephaly; CID; Combined immunodeficiency; CS; Cockayne syndrome; CSR; Class-switch recombination; DNA-PK; DNA-dependent pro
A C. elegans homolog of the Cockayne syndrome complementation group A gene
Keywords: سکته Cockayne; Nucleotide excision repair; C. elegans; Cockayne syndrome; bp; base pairs; 6-4PP; 6-4 photoproduct; cm; centimetre; CPD; cyclobutane pyrimidine dimer; CS; Cockayne syndrome; COFS; cerebro-oculo-facio-skeletal syndrome; GG-NER; global-genome nucleotide
Cockayne Syndrome group B protein stimulates NEIL2 DNA glycosylase activity
Keywords: سکته Cockayne; 5OHU; 5-hydroxyuracil; 8oxoG; 8-oxo-7,8-dihydro-2â²-deoxyguanine; AP; abasic; APE1; AP-endonuclease-1; B11; 11bp bubble structure; BER; base excision repair; co-IP; Co-immunoprecipitation; control B11; cytosine in an 11 nucleotide bubble; CS; Cockayne Sy
DNA repair mechanisms in dividing and non-dividing cells
Keywords: سکته Cockayne; DNA repair; Neural cells; Neurological disorder; Dividing and non-dividing; Endogenous DNA damage; AOA1; ataxia with ocular motor apraxia 1; AP; apurinic/apyrimidinic; APE1; AP endonuclease 1; APTX; aprataxin; ATM; ataxia telangiectasia mutated; CPDs; cyc
Repair of oxidatively generated DNA damage in Cockayne syndrome
Keywords: سکته Cockayne; Cockayne syndrome; Base excision repair; Oxidatively generated DNA damage; Endogenous DNA damage
Mitochondrial deficiency in Cockayne syndrome
Keywords: سکته Cockayne; Cockayne syndrome; Mitochondria; Aging; Transcription; DNA repair
The role of CSA and CSB protein in the oxidative stress response
Keywords: سکته Cockayne; Cockayne syndrome; Oxidative stress; Cellular redox balance; Mitochondrial dysfunction; Oxidative metabolism
Cockayne syndrome: The expanding clinical and mutational spectrum
Keywords: سکته Cockayne; Cockayne syndrome; Diagnostic criteria; Clinical subtypes; CSA; CSB
Arresting transcription and sentencing the cell: The consequences of blocked transcription
Keywords: سکته Cockayne; Apoptosis; Cockayne syndrome; Proteasome; Transcription; Ubiquitin
DNA repair, DNA replication and human disorders: A personal journey
Keywords: سکته Cockayne; Cockayne syndrome; Schizosaccharomyces pombe; Translesion synthesis; Ultraviolet light; Xeroderma pigmentosum;
The cross talk between pathways in the repair of 8-oxo-7,8-dihydroguanine in mouse and human cells
Keywords: سکته Cockayne; DNA repair; Oxidatively damaged DNA; Xeroderma pigmentosum; Cockayne syndrome; Free radicals;
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models
Keywords: سکته Cockayne; AUC; area under the curve; CH; compound heterozygote; CS; Cockayne syndrome; GG-NER; global genome NER; IGF-1; insulin-like growth factor 1; IGF-1R; insulin-like growth factor receptor; IR; ionizing radiation; MDF; mouse dermal fibroblast; MEF; mouse embr
Photosensitivity disorders in children
Keywords: سکته Cockayne; children; double-strand break DNA repair; hereditary; nucleotide excision repair; photoaggravated; photodermatoses; photosensitivity; phototesting; AD; atopic dermatitis; BS; Bloom syndrome; COFS; cerebro-oculo-facio-skeletal syndrome; CS; Cockayne syndro
Cockayne syndrome caused by paternally inherited 5 Mb deletion of 10q11.2 and a frameshift mutation of ERCC6
Keywords: سکته Cockayne; 10q11.2 Deletion; Cockayne syndrome; ERCC6; Unmasking recessive gene;
Maternal origin of a de novo microdeletion spanning the ERCC6 gene in a classic form of the Cockayne syndrome
Keywords: سکته Cockayne; Cockayne syndrome; ERCC6 gene; Mutation; Microdeletion; CS; Cockayne syndrome; NER; Nucleotide excision repair; TCR; Transcription-coupled DNA repair; SNP; Single nucleotide polymorphism; PAH; Phenylalanine hydroxylase;
DNA damage response and transcription
Keywords: سکته Cockayne; NER; RPA; DNA damage signaling; Mutagenesis; Cockayne syndrome; TC-NER complex assembly
Aging, longevity and health
Keywords: سکته Cockayne; AD; Alzheimer's disease; BMI; body mass index; BER; base excision repair; CS; Cockayne syndrome; HD; Huntington's disease; IARU; International Alliance of Research Universities; NER; nucleotide excision repair; NUS; National University of Singapore; PWD;
Accumulation of (5′S)-8,5′-cyclo-2′-deoxyadenosine in organs of Cockayne syndrome complementation group B gene knockout mice
Keywords: سکته Cockayne; Cockayne syndrome; 8,5′-Cyclopurine-2′-deoxynucleosides; Helix-distorting lesion; Hydroxyl radical; Intramolecular cyclization; Mass spectrometry; Nucleotide excision repair; Oxidatively induced DNA damage
The ubiquitin receptor Rad23: At the crossroads of nucleotide excision repair and proteasomal degradation
Keywords: سکته Cockayne; CS; Cockayne syndrome; DUBs; deubiquitylation enzymes; ER; endoplasmic reticulum; ERAD; ER-associated degradation; GGR; global genomic NER; hHR23; human homologue Rad23; mHR23; murine homologue Rad23; NER; nucleotide excision repair; TFIIH; transcription
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: A new syndrome?
Keywords: سکته Cockayne; Neurocutaneous syndrome; DNA repair; Riboflavin; Cockayne syndrome; Rothmund–Thomson syndrome
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Keywords: سکته Cockayne; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; DNA repair; Incidence
Widespread distribution of DNA glycosylases removing oxidative DNA lesions in human and rodent brains
Keywords: سکته Cockayne; 8-oxoG; 8-oxoguanine; AP; apurinic/apyrimidinic; BER; base excision repair; CP; caudatoputamen; CS; Cockayne syndrome; DAR; differentiation-associated repair; faPy; 2,6-diamino-4-hydroxy-5-formamidopyrimidine; GGR; global genomic repair; NEIL; Escherichia
Do all of the neurologic diseases in patients with DNA repair gene mutations result from the accumulation of DNA damage?
Keywords: سکته Cockayne; Aicardi–Goutières syndrome; Cockayne syndrome; Oligodendrocytes; Myelin; Calcification; Vascular disease; Thyroid hormone; TREX1; RNASEH2; Toll-like receptor; Innate immune system
New insights for understanding the transcription-coupled repair pathway
Keywords: سکته Cockayne; TCR; NER; Cockayne syndrome; Stalled RNA polymerase II; DNA lesions
New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging
Keywords: سکته Cockayne; Cockayne syndrome; Werner syndrome; Trichothiodystrophy; Xeroderma pigmentosum; Mitochondria; DNA repair; Oxidative stress;
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
Keywords: سکته Cockayne; cancer; neurodegeneration; DNA repair; genetic disease; neurocutaneous diseases; CS; Cockayne syndrome; NER; nucleotide excision repair; TTD; trichothiodystrophy; UV; ultraviolet; XP; xeroderma pigmentosum;
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Keywords: سکته Cockayne; DNA damage; neurodegeneration; nucleotide excision repair; photosensitivity; transcription; ubiquitylation; CS; Cockayne syndrome; CSA; Cockayne syndrome group A gene (CSA) or protein (CSA); CS-A; Cockayne syndrome complementation group A cell line or pat
The case for 8,5â²-cyclopurine-2â²-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum
Keywords: سکته Cockayne; DNA repair; Parkinson's disease; transcription; dopamine; cockayne syndrome; DeSanctis-Cacchione syndrome; BER; base excision repair; CS; Cockayne syndrome; CSF; cerebrospinal fluid; cyclo-dA; 8,5â²-cyclo-2â²-deoxyadenosine; Cyclopurine-deoxynucleosid