المؤلفون: Qasemian-Talgard, Arghavan¹ (AUTHOR), Saadat, Mostafa¹ (AUTHOR) saadat@shirazu.ac.ir

المصدر: Egyptian Journal of Medical Human Genetics. 12/9/2024, Vol. 25 Issue 1, p1-6. 6p.

مصطلحات موضوعية: *XERODERMA pigmentosum, *HAPLOTYPES, *ODDS ratio, *CONFIDENCE intervals, *GENOTYPES

المؤلفون: Imran, Shafaque¹ (AUTHOR), Dagar, Shivangi² (AUTHOR), Ahuja, Rhea¹ (AUTHOR), Swaroop, Devesh Kumar Jag¹ (AUTHOR), Gupta, Somesh¹ (AUTHOR), Arava, Sudheer² (AUTHOR), Verma, Kaushal K.¹ (AUTHOR), Bhari, Neetu¹ (AUTHOR) drntbhari@gmail.com

المصدر: Journal of Cutaneous Pathology. Nov2024, p1. 8p. 4 Illustrations.

مصطلحات موضوعية: *BASAL cell carcinoma, *XERODERMA pigmentosum, *PREMATURE aging (Medicine), *SKIN cancer, *SKIN tumors

Alternate Title: Trends in Kaposi's disease in the hospital setting from 1990 to 2020 in Lomé (Togo).

المؤلفون: Akakpo, Abla Sefako¹ sefasyl@yahoo.fr, Kamno, Kelly Tcheumagam¹, Téclessou, Julienne Noude², Kassang, Panawé¹, Gnossike, Piham³, Mouhari-Touré, Abas³, Kombaté, Koussaké², Tchangai-Walla, Kissem¹, Saka, Bayaki¹, Pitché, Palokinam¹

المصدر: Our Dermatology Online / Nasza Dermatologia Online. 2024 Supplement, Vol. 15, p37-42. 6p.

مصطلحات موضوعية: *XERODERMA pigmentosum, *ANTIRETROVIRAL agents, *DERMATOLOGY, *MORTALITY, *DIAGNOSIS

المؤلفون: Christian, Lea¹ (AUTHOR), Manjrekar, Pranali¹ (AUTHOR), Henkels, Karen M.¹ (AUTHOR), Rapp, Christine M.¹ (AUTHOR), Annamraju, Risha¹ (AUTHOR), Lohade, Rushabh P.¹ (AUTHOR), Singh, Shikshita¹ (AUTHOR), Carpenter, M. Alexandra¹ (AUTHOR), Khan, Saman¹ (AUTHOR), Kemp, Michael G.^1,2 (AUTHOR), Chen, Yanfang¹ (AUTHOR), Sahu, Ravi P.¹ (AUTHOR), Travers, Jeffrey B.^1,2,3 (AUTHOR) jeffrey.travers@wright.edu

المصدر: Photochemistry & Photobiology. Sep2024, Vol. 100 Issue 5, p1457-1466. 10p.

مصطلحات موضوعية: *XERODERMA pigmentosum, *KNOCKOUT mice, *PHOTOSENSITIVITY, *ULTRAVIOLET radiation, *SPHINGOMYELINASE

المؤلفون: Ahuja, Rhea¹ (AUTHOR), Imran, Shafaque¹ (AUTHOR), Swaroop, Devesh Kumar Jag¹ (AUTHOR), Gupta, Somesh¹ (AUTHOR), Verma, Kaushal K.¹ (AUTHOR), Sharma, Namrata¹ (AUTHOR), Bhari, Neetu¹ (AUTHOR) drntbhari@gmail.com

المصدر: Pediatric Dermatology. Dec2024, p1. 3p. 1 Illustration.

مصطلحات موضوعية: *CHILD behavior, *XERODERMA pigmentosum, *CHILD welfare, *DERMOSCOPY

المصدر: Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Barrett SF, Robbins JH, Tarone RE, Kraemer KH. Evidence for defective repair of cyclobutane pyrimidine dimers with normal repair of other DNA photoproducts in a transcriptionally active gene transfected into Cockayne syndrome cells. Mutat Res. 1991 Nov;255(3):281-91. doi: 10.1016/0921-8777(91)90032-k.
Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology. 1989;31(3):276-7. doi: 10.1007/BF00344359.
Merideth M, Tamura D, Angra D, Khan SG, Ferrell J, Goldstein AM, DiGiovanna JJ, Kraemer KH. Reproductive Health in Xeroderma Pigmentosum: Features of Premature Aging. Obstet Gynecol. 2019 Oct;134(4):814-819. doi: 10.1097/AOG.0000000000003490.
Atkinson EC, Thiara D, Tamura D, DiGiovanna JJ, Kraemer KH, Hadigan C. Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64. doi: 10.1097/MPG.0000000000000458.

المصدر: Natural History Study for DNA Repair Disorders

المؤلفون: Attal, Camille¹ (AUTHOR), Demoury, Benjamin¹ (AUTHOR), Reimbold, Pierre² (AUTHOR), Mensah, Aurore³ (AUTHOR), Lescaille, Géraldine¹ (AUTHOR), Rochefort, Juliette¹ (AUTHOR) juliette.rochefort@aphp.fr

المصدر: Clinical Case Reports. Aug2024, Vol. 12 Issue 8, p1-6. 6p.

مصطلحات موضوعية: *SEXUALLY transmitted diseases, *XERODERMA pigmentosum, *VIRAL load, *INFECTION, *ORAL surgeons

المؤلفون: Baklan, E.¹, Duman, N.¹ nilay.duman@ege.edu.tr, Akalın, T.², Karaarslan, I.¹

المصدر: European Journal of Pediatric Dermatology. 2024, Vol. 34 Issue 2, p112-115. 4p.

مصطلحات موضوعية: *MAST cell disease, *XERODERMA pigmentosum, *MAST cells, *SKIN biopsy, *RARE diseases, *PHOTOSENSITIVITY

المؤلفون: Yu, Jina, Yan, Chunli, Paul, Tanmoy, Brewer, Lucas, Tsutakawa, Susan E, Tsai, Chi-Lin, Hamdan, Samir M, Tainer, John A, Ivanov, Ivaylo

المصدر: Nature Communications. 15(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Rare Diseases, Human Genome, 1.1 Normal biological development and functioning, Generic health relevance, DNA Repair, DNA-Binding Proteins, Humans, Endonucleases, Transcription Factor TFIIH, Xeroderma Pigmentosum Group D Protein, Cryoelectron Microscopy, Xeroderma Pigmentosum Group A Protein, Transcription Factors, Protein Binding, DNA, Replication Protein A, Models, Molecular, DNA, Single-Stranded, Excision Repair, Nuclear Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/801347fr
https://escholarship.org/content/qt801347fr/qt801347fr.pdf

المؤلفون: Sagun, Jeffrey P., Khan, Sikandar G., Imoto, Kyoko, Tamura, Deborah, Oh, Kyu-Seon, DiGiovanna, John J., Kraemer, Kenneth H.

المصدر: PLoS Genetics; 12/2/2024, Vol. 20 Issue 12, p1-27, 27p

مصطلحات موضوعية: EXCISION repair, PREMATURE aging (Medicine), XERODERMA pigmentosum, NATURAL history, AGE groups

المؤلفون: Martins, Davi Jardim¹ (AUTHOR), Singh, Jenny Kaur^2,3 (AUTHOR), Jahjah, Tiya^2,3 (AUTHOR), Vessoni, Alexandre Teixeira^1,4 (AUTHOR), Leandro, Giovana da Silva¹ (AUTHOR), Silva, Matheus Molina¹ (AUTHOR), Biard, Denis Serge François⁵ (AUTHOR), Quinet, Annabel^1,2,3 (AUTHOR) annabel.quinet@cea.fr, Menck, Carlos Frederico Martins¹ (AUTHOR) cfmmenck@usp.br

المصدر: Photochemistry & Photobiology. Jan2024, Vol. 100 Issue 1, p4-18. 15p.

مصطلحات موضوعية: *DNA polymerases, *XERODERMA pigmentosum, *DNA damage, *CELL death, *DNA replication, *ULTRAVIOLET radiation

المؤلفون: Baskurt, Defne¹ (AUTHOR), Vural, Secil^1,2 (AUTHOR) sevural@ku.edu.tr, Ertekin, Sümeyre S.² (AUTHOR), Baykal, Can³ (AUTHOR)

المصدر: International Journal of Dermatology. Jan2024, Vol. 63 Issue 1, p59-72. 14p.

مصطلحات موضوعية: *CHILD patients, *XERODERMA pigmentosum, *ORAL mucosa, *SKIN cancer, *ANGIOSARCOMA, *BASAL cell carcinoma, *CONSCIOUSNESS raising

المؤلفون: Garcia-Moreno, Hector¹ (AUTHOR), Langbehn, Douglas R² (AUTHOR), Abiona, Adesoji³ (AUTHOR), Garrood, Isabel³ (AUTHOR), Fleszar, Zofia¹ (AUTHOR), Manes, Marta Antonia¹ (AUTHOR), Morley, Ana M Susana^3,4 (AUTHOR), Craythorne, Emma³ (AUTHOR), Mohammed, Shehla³ (AUTHOR), Henshaw, Tanya³ (AUTHOR), Turner, Sally³ (AUTHOR), Naik, Harsha³ (AUTHOR), Bodi, Istvan⁵ (AUTHOR), Sarkany, Robert P E³ (AUTHOR), Fassihi, Hiva³ (AUTHOR), Lehmann, Alan R^3,6 (AUTHOR), Giunti, Paola^1,3 (AUTHOR) p.giunti@ucl.ac.uk

المصدر: Brain: A Journal of Neurology. Dec2023, Vol. 146 Issue 12, p5044-5059. 16p.

مصطلحات موضوعية: *NEUROLOGICAL disorders, *XERODERMA pigmentosum, *CEREBELLAR ataxia, *SENSORINEURAL hearing loss, *CEREBRAL atrophy

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Wettasinghe, Ashan, Seifi, Melodee, Bravo, Marco, Adams, Austen, Patel, Aman, Lou, Monica, Kahanda, Dimithree, Peng, Hao-Che, Stelling, Allison, Fan, Li, Slinker, Jason

المصدر: Protein Science. 32(12)

مصطلحات موضوعية: base excision repair, nucleotide excision repair, xeroderma pigmentosum type B, DNA Repair, DNA, DNA Helicases, Adenosine Triphosphate, Kinetics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/053926sp
https://escholarship.org/content/qt053926sp/qt053926sp.pdf

المصدر: Reproductive Options in Inherited Skin Diseases: an International Observational Cohort Study

المؤلفون: Kalthoum Abid, Jihene Bettaieb, Faouzi El Mezni, Hamouda Boussen

المصدر: Exploration of Immunology, Vol 4, Iss 5, Pp 557-567 (2024)

مصطلحات موضوعية: xeroderma pigmentosum, skin carcinomas, dna damage, cytokines, radiotherapy, chemotherapy, inflammation, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.explorationpub.com/Journals/ei/Article/1003159; https://doaj.org/toc/2768-6655

URL الوصول: https://doaj.org/article/5e285ae8c9bd4ab5bcc3ccb368bcf107

المؤلفون: Fukumoto, Takeshi¹ (AUTHOR), Harada, Tomoka¹ (AUTHOR), Ito, Takamichi² (AUTHOR), Fukushima, Satoshi³ (AUTHOR), Ono, Ryusuke¹ (AUTHOR), Furue, Masutaka² (AUTHOR), Nishigori, Chikako¹ (AUTHOR) chikako@med.kobe-u.ac.jp

المصدر: Journal of Dermatological Science. May2024, Vol. 114 Issue 2, p83-85. 3p.

مصطلحات موضوعية: *XERODERMA pigmentosum, *SQUAMOUS cell carcinoma, *DNA repair, *DIFFERENTIAL diagnosis

المصدر: Journal of the Dermatology Nurses' Association; Nov/Dec2024, Vol. 16 Issue 6, p235-242, 8p

مصطلحات موضوعية: SUPPORT groups, NONPROFIT organizations, CICATRICAL alopecia, HEALTH services accessibility, ADRENOCORTICAL hormones, TUMORS in children, ALOPECIA areata, SKIN tumors, PSORIASIS, SKIN diseases, DERMATOLOGY, SKIN care, NEVUS, INFORMATION resources, BEHCET'S disease, VITILIGO, HYPERHIDROSIS, PEMPHIGUS, ROSACEA, LUPUS erythematosus, XERODERMA pigmentosum, CUTANEOUS T-cell lymphoma, PATIENT-centered care, BASAL cell nevus syndrome, ICHTHYOSIS, SYSTEMIC scleroderma, STURGE-Weber syndrome, MEDICAL research, QUALITY of life, ECZEMA, DRUG eruptions, NAIL diseases, ECTODERMAL dysplasia, CALLOSITIES

مصطلحات جغرافية: UNITED States, CANADA

المؤلفون: Chen, Linli, Guo, Xiaojing, Lin, Wen, Huang, Yingying, Zhuang, Suling, Li, Qianfeng, Xu, Jianhua, Ye, Shengnan

المصدر: Scientific Reports; 11/4/2024, Vol. 14 Issue 1, p1-15, 15p

مصطلحات موضوعية: VIRAL genes, LYTIC cycle, STOMACH cancer, XERODERMA pigmentosum, VIRUS reactivation, EPSTEIN-Barr virus