Keywords: Trichothiodystrophy; Trichothiodystrophy; Nonphotosensitive; Glutaric aciduria 3; Glutaryl-CoA oxidase deficiency; Chromosome microarray analysis; MLKIP; SUGCT;
مقالات ISI Trichothiodystrophy (ترجمه نشده)
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در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Keywords: Trichothiodystrophy; Xeroderma pigmentosum; Trichothiodystrophy; Cockayne syndrome; Nucleotide excision repair; Photosensitivity; Neurological abnormalities;
Keywords: Trichothiodystrophy; LD; Leukodystrophies; gLE; Genetic leukoencephalopathy; MR; Magnetic resonance; MRI; Magnetic resonance imaging; GLIA; Global Leukodystrophy Initiative; CNS; Central nervous system; SIMD; Society for Inherited Metabolic Disorders; VWM; Vanishing white mat
Keywords: Trichothiodystrophy; MMP; matrix metalloproteinase; MMPIs; matrix metalloproteinase inhibitors; ECM; extracellular matrix; SC; stratum coreneum; UVB; ultraviolet radiations B; NMSC; non-melanoma skin cancer; SCC; squamous cell carcinoma; BCC; basal cell carcinoma; DNA; deoxyr
Keywords: Trichothiodystrophy; 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
Dynamics of DDB2-DDB1 complex under different naturally-occurring mutants in Xeroderma Pigmentosum disease
Keywords: Trichothiodystrophy; 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
Identification of four novel XPC mutations in two xeroderma pigmentosum complementation group C patients and functional study of XPC Q320X mutant
Keywords: Trichothiodystrophy; 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
Understanding photodermatoses associated with defective DNA repair: Photosensitive syndromes without associated cancer predisposition
Keywords: Trichothiodystrophy; 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;
XPA: A key scaffold for human nucleotide excision repair
Keywords: Trichothiodystrophy; NER; nucleotide excision repair; XP; Xeroderma pigmentosum; TFIIH; transcription factor II H; RPA; replication protein A; WT; wild type; FL; full-length; AAF; N-(deoxyguanosin-8-yl)-2-acetylaminofluorene; (6-4)PP; (6-4)photoproduct; CPD; cyclobutane pyrim
Role of XPD in cellular functions: To TFIIH and beyond
Keywords: Trichothiodystrophy; 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
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
Keywords: Trichothiodystrophy; C7orf11; Trichothiodystrophy; TTD; TTDN1; MPLKIP; Brittle hair
DNA repair mechanisms in dividing and non-dividing cells
Keywords: Trichothiodystrophy; 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
Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models
Keywords: Trichothiodystrophy; 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: Trichothiodystrophy; 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
Aging, longevity and health
Keywords: Trichothiodystrophy; 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;
The ubiquitin receptor Rad23: At the crossroads of nucleotide excision repair and proteasomal degradation
Keywords: Trichothiodystrophy; 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
XPD structure reveals its secrets
Keywords: Trichothiodystrophy; TFIIH; Xeroderma pigmentosum; Trichothiodystrophy; Helicase
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Keywords: Trichothiodystrophy; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; DNA repair; Incidence
Tricotiodistrofia: sÃndrome PIBIDS
Keywords: Trichothiodystrophy; tricotiodistrofia; déficit de azufre; PIBIDS; trichothiodystrophy; sulfur deficit; PIBIDS;
New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging
Keywords: Trichothiodystrophy; Cockayne syndrome; Werner syndrome; Trichothiodystrophy; Xeroderma pigmentosum; Mitochondria; DNA repair; Oxidative stress;
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
Keywords: Trichothiodystrophy; cancer; neurodegeneration; DNA repair; genetic disease; neurocutaneous diseases; CS; Cockayne syndrome; NER; nucleotide excision repair; TTD; trichothiodystrophy; UV; ultraviolet; XP; xeroderma pigmentosum;
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models
Keywords: Trichothiodystrophy; Nucleotide excision repair; Global genome repair; Transcription coupled repair; Mouse models; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; Segmental progeria; Inter-strand cross-link repair; Carcinogenesis; Mutagenesis; Chemical exposure
Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer
Keywords: Trichothiodystrophy; DNA repair; Cancer; Aging; Nucleotide excision repair; Transcription; Base excision repair; Xeroderma pigmentosum; Trichothiodystrophy; Cockayne syndrome;
Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice
Keywords: Trichothiodystrophy; Mouse keratinocyte cell lines; Terminal differentiation; Nucleotide excision repair; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; Tetraploidy;
Cutaneous melanoma susceptibility and progression genes
Keywords: Trichothiodystrophy; Melanoma; Mutation; Predisposition; Progression; Oncogene; Tumor suppressor; APC; adenomatosis polyposis coli; BCC; basal cell carcinoma; CS; Cockayne syndrome; LFS; Li-Fraumeni syndrome; LFL; Li-Fraumeni-like syndrome; LMM; lentigo maligna melanoma; LOH;