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المؤلفون: Gabriella Santa Lucia, Laura Winterfield, Nicholas Strat, John Plante, Lara Wine Lee, Alan Snyder
المصدر: JAAD Case Reports, Vol 13, Iss, Pp 141-143 (2021)
JAAD Case Reportsمصطلحات موضوعية: Pathology, medicine.medical_specialty, Xeroderma pigmentosum, skin cancer, DNA repair, business.industry, Brain tumor, Dark skin, dark skin, Case Report, xeroderma pigmentosum, Dermatology, medicine.disease, XP, xeroderma pigmentosum, skin of color, XP - Xeroderma pigmentosum, Glioma, glioma, RL1-803, medicine, Skin cancer, business, brain tumor
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المؤلفون: Kenneth H. Kraemer, Sikandar G. Khan, Moise L. Levy, Deborah Tamura, Matthew C. Fox, Andrew M. Armenta, John J. DiGiovanna, Paul R. Massey
المصدر: JAAD Case Reports
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Xeroderma pigmentosum, Case Report, Dermatology, XP, xeroderma pigmentosum, 03 medical and health sciences, XP - Xeroderma pigmentosum, NER, nucleotide excision repair, medicine, BCC - Basal cell carcinoma, Basal cell carcinoma, xeroderma pigmentosum variant, BCC, basal cell carcinoma, skin cancer, business.industry, xeroderma pigmentosum, medicine.disease, UV, ultraviolet, 030104 developmental biology, POLH, XP-V, xeroderma pigmentosum variant, Skin cancer, business, Nucleotide excision repair
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المؤلفون: Taro Masaki, Mariko Tsujimoto, Riko Kitazawa, Yoko Funasaka, Sohei Kitazawa, Chikako Nishigori, Eiji Nakano, Masamitsu Ichihashi, Akiyoshi Kakita, Fumio Kanda
المصدر: JAAD Case Reports
مصطلحات موضوعية: Mutation, medicine.medical_specialty, Xeroderma pigmentosum, business.industry, Photoaging, Autopsy, Case Report, forty years of follow-up, Dermatology, Disease, Compound heterozygosity, medicine.disease, medicine.disease_cause, Complementation group, XP, xeroderma pigmentosum, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, autopsy, 030220 oncology & carcinogenesis, Medicine, Sibling, business, mild-type XP-A
وصف الملف: application/pdf
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4Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review
المؤلفون: Makoto Yoneda, Katsuki Tsuchiyama, Yoshitaka Aoki, Hideaki Ito, Osamu Yokoyama
المصدر: Urology Case Reports
Urology Case Reports, Vol 27, Iss, Pp-(2019)مصطلحات موضوعية: medicine.medical_specialty, Xeroderma pigmentosum, UTI, urinary tract infection, Neurogenic bladder, Urology, 030232 urology & nephrology, Disease, lcsh:RC870-923, Gastroenterology, XP, xeroderma pigmentosum, XPA, xeroderma pigmentosum type A, 03 medical and health sciences, 0302 clinical medicine, XP - Xeroderma pigmentosum, Internal medicine, medicine, SPT, suprapubic tube, Functional Medicine, business.industry, Febrile urinary tract infection, Urethral sphincter, Deoxyribonucleic acid repair, Bladder emptying, MCC, maximum cystometric capacity, PVR, post-void residual urine volume, medicine.disease, lcsh:Diseases of the genitourinary system. Urology, 030220 oncology & carcinogenesis, CIC, clear intermittent catheterization, business, Low bladder compliance
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المؤلفون: Edyta Heropolitanska Pliszka, Małgorzata Pac, Mateusz Maciejczyk, Bożena Mikołuć, Barbara Pietrucha, Halina Car, Radosław Motkowski
المصدر: Redox Biology, Vol 11, Iss, Pp 375-383 (2017)
Redox Biologyمصطلحات موضوعية: Prx 3, mitochondrial peroxiredoxin 3, DNA Repair, LCLs, lymphoblastoid cell lines, Fe, iron, Review Article, Biochemistry, Antioxidants, Nijmegen breakage syndrome (NBS), Glx, glyoxal, Bloom syndrome, mtETC, mitochondrial electron transport chain, lcsh:QH301-705.5, Cu, copper, 8-OHdG, 8-hydroxy-2-deoxyguanosine, ox-LDL, oxidised low-density lipoprotein, food and beverages, DS, Down Syndrome, UA, uric acid, Lipoproteins, LDL, CS, Cockayne Syndrome, Poly(ADP-ribose) Polymerases, lcsh:Medicine (General), Bloom Syndrome, GSH-Px, glutathione peroxidase, G6PD, glucose-6 phosphate dehydrogenase, DNA damage, TOP1mt, mitochondrial topoisomerase I, FA, Fanconi anaemia, mTOR, mammalian target of rapamycin, XP, Xeroderma pigmentosum, DDR, DNA damage response, 03 medical and health sciences, Oxidative damage, Humans, HO, heme oxygenase, BS, Bloom syndrome, NOX4, NADPH oxidase 4, Nijmegen Breakage Syndrome, Ataxia-telangiectasia (A-T), DNA-PKcs, DNA-dependent protein kinase catalytic subunit, MDA, malondialdehyde, XO, xanthine oxidase, GSSG, oxidised glutathione, medicine.disease, LWMA, low molecular weight antioxidants, 030104 developmental biology, DSBs, double strand breaks, Ataxia-telangiectasia, AA, ascorbic acid, GSSG-R, glutathione reductase, CAT, catalase, HR, homologous recombination, PARP, Poly (ADP-ribose) polymerases, Reactive Oxygen Species, Nijmegen breakage syndrome, 0301 basic medicine, MGlx, methylglyoxal, GSH, reduced glutathione, PDTC, ammonium pyrrolidinedithiocarbamate, Clinical Biochemistry, Mitochondrion, medicine.disease_cause, ALA, α-lipolic acid, HGS, Hutchinson-Gilford syndrome, LOX, lipoxygenase, t-butyl-OOH, tert-Butyl-hydroperoxide, CBS, chromosomal breakage syndromes, NAC, N-acetyl-L-cysteine, lcsh:R5-920, NADPH oxidase, GPx, glutathione peroxidase, biology, mROS, mitochondrial reactive oxygen species, Zn, zinc, Mitochondria, AOA3, ataxia with oculomotor apraxia type 3, PKC-δ, protein kinase C, X/XO, xanthine/xanthine oxidase, NADPH Oxidase 4, Signal Transduction, Premature aging, Bloom syndrome (BS), AOS, antioxidant defense systems, NAD+, oxidised nicotinamide adenine dinucleotide, Se, selenium, Ataxia Telangiectasia, ROS, reactive oxygen species, SOD, superoxide dismutase, GST, glutathione-S-transferase, medicine, Q10, ubiquinone, IR, ionising radiation, Organic Chemistry, A-T, Ataxia-telangiectasia, mtDNA, mitochondrial DNA, POLG, polymerase gamma, Oxidative Stress, NBS, Nijmegen breakage syndrome, Gene Expression Regulation, lcsh:Biology (General), ATM, Ataxia Telangiectasia Mutated gene, NOX2, NADPH oxidase 2, biology.protein, Cancer research, WS, Werner syndrome (WS), SMG-1, suppressor with morphological effect on genitalia family member, ATR, ATM and Rad3-related, Oxidative stress, DNA Damage
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المساهمون: Le May, Nicolas, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Strasbourg, Université de Strasbourg (UNISTRA), Etablissement Hospitalier Universitaire d’Oran
المصدر: Journal of Case Reports and Studies
Journal of Case Reports and Studies, 2018, 6 (4), ⟨10.15744/2348-9820.6.401⟩مصطلحات موضوعية: 6-4PP: 6-4 Photoproducts, Xeroderma pigmentosum, RARß2: Retinoic Acid Receptor Isoform ß2, DNA Repair, DNA repair, [SDV]Life Sciences [q-bio], DAPK1: Death Associated Protein Kinase 1 (DAPK1), GGR: Global Genome Repair, Transcription (biology), CPD: Cyclobutane Pyrimidine Dimers, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.BBM] Life Sciences [q-bio]/Biochemistry, Molecular Biology, Medicine, Algerian Patients, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, UDS: Unscheduled DNA Synthesis, NER: Nucleotide-Excision Repair, NR: Nuclear Receptor, Nucleotide-Excision Repair, Transcription List of abbreviations: XP: Xeroderma pigmentosum, business.industry, RRS: Recovery of RNA Synthesis after DNA Damage, GAPDH: Glyceraldehyde-3-Phosphate Dehydrogenase, medicine.disease, [SDV] Life Sciences [q-bio], CYP26: Cytochrome P450 Family 26, RAR: Retinoic-acid Receptor, Cancer research, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], business, TCR: Transcription-Coupled Repair
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9bd236f442992764314cc9fde0b6776
https://doi.org/10.15744/2348-9820.6.401 -
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المؤلفون: S. A. Mosavi-Jarrahi, M. Hajiesmaeil, Maryam Gholamalizadeh, Atefeh Aminifard, Mohammad Esmaeil Akbari, Saeid Doaei
المصدر: Journal of Nutritional Science
مصطلحات موضوعية: 0301 basic medicine, Nutritional genomics, Colorectal cancer, Endocrinology, Diabetes and Metabolism, CC, colon cancer, Review Article, Biology, MutS, mutator S, Bioinformatics, XP, xeroderma pigmentosum, COX, cyclo-oxygenase, Colon cancer, Polymorphisms, Protein, 03 medical and health sciences, 0302 clinical medicine, NER, nucleotide excision repair, Genotype, Genetic predisposition, medicine, SNP, Nutrition and Dietetics, medicine.disease, 030104 developmental biology, Red Meat Consumption, 030220 oncology & carcinogenesis, CRC, colorectal cancer, Red meat, CYP, cytochrome P450, Cyclo-oxygenase, NAT, N-acetyltransferase, Food Science
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المؤلفون: Tao Wang, Jonathan J. Lee, Jun Shen, Bill Q. Lian, X Zhou, Christine G. Lian, Chenchen Xu, Yuehua Liu
المصدر: JAAD Case Reports
مصطلحات موضوعية: Xeroderma pigmentosum, DNA repair, Nonsense mutation, Case Report, Dermatology, XP, Xeroderma pigmentosum, Compound heterozygosity, Cockayne syndrome, whole exome sequencing, Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene, Germline mutation, xeroderma pigmentosum complementation group G, medicine, UV, Ultraviolet, Genetics, NER, Nucleotide excision repair, WES, Whole exome sequencing, business.industry, Genodermatosis, nucleotide excision repair, medicine.disease, CS, Cockayne syndrome, XP-G, Xeroderma pigmentosum complementation group G, business, ERCC5, ERCC5, Excision Repair Cross-complementing Rodent Repair Deficiency Complementation Group 5 gene, Nucleotide excision repair
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المؤلفون: Hiraku Takebe, Suming Wang, Chikako Nishigori, Jinming Zhang
المصدر: Mutation Research/DNAging. 237:253-257
مصطلحات موضوعية: DNA Replication, Male, congenital, hereditary, and neonatal diseases and abnormalities, Aging, DNA Repair, Ultraviolet Rays, DNA repair, Biology, medicine.disease_cause, chemistry.chemical_compound, Progeria, Reference Values, XP - Xeroderma pigmentosum, Genetics, medicine, Ultraviolet light, Humans, Child, Molecular Biology, Cells, Cultured, Skin, integumentary system, nutritional and metabolic diseases, medicine.disease, Virology, Molecular biology, Herpes simplex virus, chemistry, Unscheduled DNA Synthesis, Cell culture, DNA
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المؤلفون: Susan A. Harcourt, T. Rowe, Jillian E. Lowe, Jane Cole, Colin F. Arlett, Michael H.L. Green, Alexander Vincent Anstey, P. Akinluyi
المصدر: Mutation research. 273(2)
مصطلحات موضوعية: Electrophoresis, Male, Xeroderma pigmentosum, Ultraviolet Rays, Lymphocyte, Microgel electrophoresis, Biology, Toxicology, Lymphocyte Activation, chemistry.chemical_compound, XP - Xeroderma pigmentosum, Genetics, medicine, Humans, Lymphocytes, Molecular Biology, Cells, Cultured, Xeroderma Pigmentosum, Middle Aged, medicine.disease, Molecular biology, Comet assay, Kinetics, medicine.anatomical_structure, chemistry, Cell culture, Immunology, Ultraviolet irradiation, Female, DNA
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::518277601bb5629d2b097d3560834345
https://pubmed.ncbi.nlm.nih.gov/1372097
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