Xeroderma pigmentosum: a review and case series
Keywords: pigmentosum xeroderma; xeroderma pigmentosum; squamous cell carcinoma; skin hyperpigmentation; photophobia
مقالات ISI pigmentosum xeroderma (ترجمه نشده)
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Xeroderma pigmentosum compliqué d'une tumeur intracérébrale : à propos d'un cas
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Tumeur cérébrale; Schwanom; Xeroderma pigmentosum; Cancer; Schwannoma;
Regulation of damage recognition in mammalian global genomic nucleotide excision repair
Keywords: pigmentosum xeroderma; Nucleotide excision repair; Xeroderma pigmentosum; XPC; UV-DDB; Ubiquitination
Hereditary Genodermatoses with Cancer Predisposition
Keywords: pigmentosum xeroderma; Genodermatoses; Nevoid basal cell carcinoma syndrome; Neurofibromatosis type 1; Neurofibromatosis type 2; Tuberous sclerosis; Melanoma; Xeroderma pigmentosum; Dyskeratosis congenita;
Xeroderma pigmentosum : proposition thérapeutique radicale utilisant le derme artificiel au niveau de la face
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Photodermatoses; Derme artificiel; Integra®; ChirurgieXeroderma pigmentosum; Photodermatosis; Artificial dermis; Integra®; Surgery
Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk
Keywords: pigmentosum xeroderma; POLH; DNA repair; Xeroderma pigmentosum; Polymorphism; Melanoma/genetics
XPC initiation codon mutation in xeroderma pigmentosum patients with and without neurological symptoms
Keywords: pigmentosum xeroderma; DNA repair; Molecular genetics; Sensorineural hearing loss; Skin cancer; Xeroderma pigmentosum
XPD structure reveals its secrets
Keywords: pigmentosum xeroderma; TFIIH; Xeroderma pigmentosum; Trichothiodystrophy; Helicase
Skin cancers, blindness, and anterior tongue mass in African brothers
Keywords: pigmentosum xeroderma; BCC; basal cell carcinoma; NER; nucleotide excision repair; SCC; squamous cell carcinoma; UV; ultraviolet radiation; XP; xeroderma pigmentosum;
Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; DNA repair; Incidence
Overexpression of DNA repair genes is associated with metastasis: A new hypothesis
Keywords: pigmentosum xeroderma; DNA repair; Recombination; Metastasis; Melanoma; Xeroderma pigmentosum; Replication forks;
X-ray repair cross-complementing group 4 (XRCC4) promoter −1394∗T-related genotype, but not XRCC4 codon 247/intron 3 or xeroderma pigmentosum group D codon 312, 751/promoter −114, polymorphisms are correlated with higher susceptibility to myoma
Keywords: pigmentosum xeroderma; DNA repair; leiomyoma; polymorphism; xeroderma pigmentosum; XRCC4
Transcriptional changes in trichothiodystrophy cells
Keywords: pigmentosum xeroderma; Gene expression; Microarrays; UV-irradiation; Xeroderma pigmentosum
Photoaging and DNA repair
Keywords: pigmentosum xeroderma; Aging; Base excision repair; DNA damage; DNA repair; Nucleotide excision repair; Photoaging; Ultraviolet; Xeroderma pigmentosum
CPDs and 6-4PPs play different roles in UV-induced cell death in normal and NER-deficient human cells
Keywords: pigmentosum xeroderma; CPD-photolyase; 6-4PP-photolyase; DNA repair; Recombinant adenovirus; Xeroderma pigmentosum; Ultraviolet light; UV lesions; Nucleotide excision repair
Sustained activation of p53 in confluent nucleotide excision repair-deficient cells resistant to ultraviolet-induced apoptosis
Keywords: pigmentosum xeroderma; CS, Cockayne's syndrome; CPD, cyclobutane pyrimidine dimers; GGR, global genome repair; TCR, transcription-coupled repair; TTD, trichothiodystrophy; XP, xeroderma pigmentosumApoptosis; DNA repair; p53; p21Waf1/Cip1; UV irradiation; Xeroderma pigmentosum;
The 8,5′-cyclopurine-2′-deoxynucleosides: Candidate neurodegenerative DNA lesions in xeroderma pigmentosum, and unique probes of transcription and nucleotide excision repair
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Neurodegeneration; Oxidative stress; Reactive oxygen species; Oxidative DNA damage; RNA polymerase
8,5′-Cyclopurine-2′-deoxynucleosides in DNA: Mechanisms of formation, measurement, repair and biological effects
Keywords: pigmentosum xeroderma; Breast cancer; 8,5′-Cyclopurine-2′-deoxynucleosides; Helix-distorting lesion; Hydroxyl radical; Intramolecular cyclization; Mass spectrometry; Nucleotide excision repair; Oxidative DNA damage; Xeroderma pigmentosum
Versatile protection from mutagenic DNA lesions conferred by bipartite recognition in nucleotide excision repair
Keywords: pigmentosum xeroderma; Mutagenesis; Cancer; Carcinogens; Genome stability; DNA repair; Ultraviolet radiation; Xeroderma pigmentosum
New areas of focus at workshop on human diseases involving DNA repair deficiency and premature aging
Keywords: pigmentosum xeroderma; Cockayne syndrome; Werner syndrome; Trichothiodystrophy; Xeroderma pigmentosum; Mitochondria; DNA repair; Oxidative stress;
Domains in the XPA protein important in its role as a processivity factor
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; XPA protein; DNA repair; Processive mechanism of action
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: A complex genotype-phenotype relationship
Keywords: pigmentosum xeroderma; cancer; neurodegeneration; DNA repair; genetic disease; neurocutaneous diseases; CS; Cockayne syndrome; NER; nucleotide excision repair; TTD; trichothiodystrophy; UV; ultraviolet; XP; xeroderma pigmentosum;
Genome instability and DNA damage accumulation in gene-targeted mice
Keywords: pigmentosum xeroderma; DNA repair; knockout; mouse; spontaneous DNA damage; ABH; AlkB homolog; AP; apurimidinic; BER; base excision repair; bp; base pair; cyPu; 5â²,8-purine cyclodeoxynucleoside; DR; direct reversal; DSB; double-strand break; E. coli; Escherichia coli; ERCC1;
The oxidatively induced DNA lesions 8,5â²-cyclo-2â²-deoxyadenosine and 8-hydroxy-2â²-deoxyadenosine are strongly resistant to acid-induced hydrolysis of the glycosidic bond
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Neurodegeneration; DNA repair; Oxidative stress;
Neurons and astrocytes exhibit lower activities of global genome nucleotide excision repair than do fibroblasts
Keywords: pigmentosum xeroderma; UV; Nucleotide excision repair; Xeroderma pigmentosum; Neurodegeneration; Neurons; Astrocytes
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome
Keywords: pigmentosum xeroderma; 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
Xeroderma pigmentosum complementation group A protein is driven to nucleotide excision repair sites by the electrostatic potential of distorted DNA
Keywords: pigmentosum xeroderma; Global genome repair; Nucleotide excision repair; Transcription-coupled repair; Xeroderma pigmentosum
The case for 8,5â²-cyclopurine-2â²-deoxynucleosides as endogenous DNA lesions that cause neurodegeneration in xeroderma pigmentosum
Keywords: pigmentosum xeroderma; 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
Schistosoma mansoni: Gene expression of the nucleotide excision repair factor 2 (NEF2) during the parasite life cycle, and in adult worms after exposure to different DNA-damaging agents
Keywords: pigmentosum xeroderma; NER; nucleotide excision repair; TCR; transcription-coupled repair; GGR; global genomic repair; NEF; nucleotide excision repair factor; UBL; ubiquitin-like; UBA; ubiquitin-associated; RB4; Rad4-binding; TMA; tetramethylammonium; MMS; methylmethanesulphona
Influence of XPB helicase on recruitment and redistribution of nucleotide excision repair proteins at sites of UV-induced DNA damage
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Confocal microscopy; Helicase; TFIIH
Frequent recovery of triplet mutations in UVB-exposed skin epidermis of Xpc-knockout mice
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; XPC; UVB; Triplet mutation; Transgenic mouse; Skin cancer
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
Keywords: pigmentosum xeroderma; neurodegeneration; mitochondria; oxidative damage; Huntington's disease; Friedreich ataxia; xeroderma pigmentosum; BDNF; brain-derived neurotrophic factor; CREB; cyclic AMP response element-binding protein; cybrid; cytoplasmic hybrid; FRDA; Friedreich a
Nonmelanoma skin cancer
Keywords: pigmentosum xeroderma; AK; actinic keratosis; ALA; 5-aminolevulinic acid; BCC; basal cell carcinoma; 5-FU; 5-fluorouracil; FasR; Fas receptor; HPV; human papillomavirus; MC1R; melanocortin-1 receptor; MMS; Mohs micrographic surgery; NMSC; nonmelanoma skin cancer; PDT; photodyna
Tissue specific mutagenic and carcinogenic responses in NER defective mouse models
Keywords: pigmentosum xeroderma; 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
Developing master keys to brain pathology, cancer and aging from the structural biology of proteins controlling reactive oxygen species and DNA repair
Keywords: pigmentosum xeroderma; amyotrophic lateral sclerosis; ataxia-telangiectasia-like disorder; Werner syndrome; xeroderma pigmentosum; nitric oxide synthase; superoxide dismutase; AfXPB; Archaeoglobus fulgidus XPB; AH; autoinhibitory helix; ALS; amyotrophic lateral sclerosis; ATL
Functional lentiviral vectors for xeroderma pigmentosum gene therapy
Keywords: pigmentosum xeroderma; XP, xeroderma pigmentosum; UV, ultraviolet; UDS, unscheduled DNA synthesis; NER, nucleotide excision repair; SIN, self-inactivatingDNA repair; Lentivirus; Xeroderma pigmentosum; Ultraviolet
Adenovirus mediated transduction of the human DNA polymerase eta cDNA
Keywords: pigmentosum xeroderma; DNA repair; Recombinant adenovirus; Xeroderma pigmentosum; Ultraviolet light; DNA polymerase eta;
Replication of damaged DNA by translesion synthesis in human cells
Keywords: pigmentosum xeroderma; DNA polymerase; PCNA; UV light; Xeroderma pigmentosum;
Mending human genes: A job for a lifetime
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Cockayne syndrome; Nucleotide excision repair; Unscheduled DNA synthesis; Postreplication repair; Radiobiology;
Laryngeal dystonia in xeroderma pigmentosum
Keywords: pigmentosum xeroderma; Xeroderma pigmentosum; Larynx; Vocal cord; Focal dystonia; Stridor;
DNA-Based Diagnosis of Xeroderma Pigmentosum Group C by Whole-Genome Scan Using Single-Nucleotide Polymorphism Microarray
Keywords: pigmentosum xeroderma; homozygosity mapping; single-nucleotide polymorphism microarray; whole-genome scan; xeroderma pigmentosum;
Ultraviolet Radiation-Induced Impairment of Tumor Rejection Is Enhanced in Xeroderma Pigmentosum A Gene-Deficient Mice
Keywords: pigmentosum xeroderma; immuno-suppression; tumor immunity; UVB; xeroderma pigmentosum; XPA-gene;
How are specialized (low-fidelity) eukaryotic polymerases selected and switched with high-fidelity polymerases during translesion DNA synthesis?
Keywords: pigmentosum xeroderma; TLS; Low-fidelity; Y-family; Eta; Kappa; Iota; Zeta; SUMO; Ubiquitin; PCNA; Polymerase switching; Xeroderma pigmentosum; XPV; Post-translational modification;
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features
Keywords: pigmentosum xeroderma; Cockayne syndrome; DNA repair; mutation; TFIIH; xeroderma pigmentosum;
DNA adducts from acetaldehyde: implications for alcohol-related carcinogenesis
Keywords: pigmentosum xeroderma; Crotonaldehyde; Acetaldehyde; DNA-protein cross-links; DNA interstrand cross-links; DNA repair; Fanconi anemia; Xeroderma pigmentosum;
Mismatch repair protein Msh2 contributes to UVB-induced cell cycle arrest in epidermal and cultured mouse keratinocytes
Keywords: pigmentosum xeroderma; Cell cycle; Mismatch repair; Xeroderma pigmentosum; UV-light; Epidermis;
Rare diseases provide rare insights into DNA repair pathways, TFIIH, aging and cancer
Keywords: pigmentosum xeroderma; DNA repair; Cancer; Aging; Nucleotide excision repair; Transcription; Base excision repair; Xeroderma pigmentosum; Trichothiodystrophy; Cockayne syndrome;
The yeast rDNA locus: A model system to study DNA repair in chromatin
Keywords: pigmentosum xeroderma; CHO; Chinese hamster ovary; CPDs; cyclobutane pyrimidine dimers; CS; Cockayne syndrome; CSB; CS group B; DAHC; histone deacetylases; FACT; facilitates chromatin transcription; GGR; global genomic repair; HAT; histone acetyltransferases; ISWI; imitation sw
Repair characteristics and differentiation propensity of long-term cultures of epidermal keratinocytes derived from normal and NER-deficient mice
Keywords: pigmentosum xeroderma; Mouse keratinocyte cell lines; Terminal differentiation; Nucleotide excision repair; Xeroderma pigmentosum; Cockayne syndrome; Trichothiodystrophy; Tetraploidy;
Nucleotide excision repair in chromatin and the right of entry
Keywords: pigmentosum xeroderma; Histones; Transcription coupled repair; Cyclobutane pyrimidine dimer; Designed nucleosomes; CPD; cyclobutane pyrimidine dimer; 6-4PPs; 6-4 photoproducts; AAF-G; acetylaminofluorene-guanine adduct; GGR; global genomic repair; NER; nucleotide excision repai