Results 41 to 50 of about 11,060 (134)

Global-genome Nucleotide Excision Repair Controlled by Ubiquitin/Sumo Modifiers [PDF]

, 2016
Global-genome nucleotide excision repair (GG-NER) prevents genome instability by excising a wide range of structurally unrelated DNA base adducts and crosslinks induced by chemical carcinogens, ultraviolet (UV) radiation or intracellular metabolic by ...
Chiara Balbo Pogliano, Hanspeter Naegeli, Peter Rüthemann   +2 more
core   +2 more sources

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient

Frontiers in Endocrinology
Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme.
Shu-hui Wu, Ting Xiao, Dan Zhao, Ying-hong Zeng, Ming-fang Zhu, Ming-fang Zhu   +5 more
doaj   +1 more source

A review of photodiagnostic investigations over 26 years:experience of the National Scottish Photobiology Service (1989-2015) [PDF]

, 2017
Background The Scottish Photobiology Service is the national referral pathway for patients with cutaneous photosensitivity diseases in Scotland. We reviewed the pattern of diagnosis of photosensitivity diseases and investigations performed between 1989 ...
Dawe, Robert, Ibbotson, Sally, Moseley, Harry, Naasan, Hannah   +3 more
core   +3 more sources

Xeroderma pigmentosum complicated by keratoacanthoma in a Kashmiri girl

Pigment International, 2018
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder characterized by defective DNA repair leading to clinical and cellular hypersensitivity to ultraviolet radiation.
Yasmeen J Bhat, Peerzada Sajad, Najmu Saqib, Iffat Hassan, Roohi Wani   +4 more
doaj   +1 more source

Tissue specific mutagenic and carcinogenic responses in NER defective mouse models. [PDF]

, 2007
Several mouse models with defects in genes encoding components of the nucleotide excision repair (NER) pathway have been developed. In NER two different sub-pathways are known, i.e. transcription-coupled repair (TC-NER) and global-genome repair (GG-NER).
Aboussekhra, Alekseev, Ananthaswamy, Araujo, Balajee, Barnes, Berg, Berg, Berg, Bohr, Bol, Bol, Bootsma, Bradsher, Brash, Brooks, Budd, Cheo, Cheo, Cheo, Chipchase, Coin, Conforti, de Boer, de Boer, de Boer, de Boer, de Laat, de Vries, de Vries, de Vries, de Vries, de Waard, Dianov, Dollé, Drane, Drapkin, Dumaz, Egly, Esther M. Hoogervorst, Evans, Fitch, Friedberg, Friedberg, Frijhoff, Garssen, Giese, Giglia-Mari, Gijsbertus T.J. van der Horst, Harada, Harm de Waard, Harper, Harry van Steeg, Hasty, Henning, Hoeijmakers, Hollander, Hoogervorst, Hoogervorst, Hoogervorst, Hoogervorst, Hoogstraten, Hwang, Iben, Ide, Itoh, Kanjilal, Keriel, Klungland, Kress, Kuraoka, Leadon, Lee, Lee, Lehmann, Li, Ljungman, Lu, Mayne, McWhir, Mellon, Mellon, Moser, Mu, Murai, Nakane, Nakatsu, Nance, Ng, Ng, Niedernhofer, Niedernhofer, O’Donovan, Prasher, Reardon, Reis, Riedl, Ruven, Sands, Schaeffer, Schaeffer, Schrader, Selfridge, Shiomi, Shiomi, Shivji, Sijbers, States, Stigger, Sugasawa, Sugasawa, Sun, Susan W.P. Wijnhoven, Takahashi, Takeuchi, Tan, Tanaka, Tang, Tian, Tian, Tornaletti, Troelstra, van der Horst, van der Horst, van Kranen, van Kreijl, van Oosterwijk, van Oostrom, van Zeeland, Volker, Vreeswijk, Wakasugi, Weeda, Wijnhoven, Wijnhoven, Wijnhoven, Winkler, Yokoi, Yonemasu, Yoon, You   +140 more
core   +1 more source

Neurogenic bladder associated with xeroderma pigmentosum type A: A case report and literature review

Urology Case Reports, 2019
Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused by a defect in deoxyribonucleic acid repair. Along with cutaneous symptoms, neurological symptoms are important clinical features of XP.
Katsuki Tsuchiyama, Yoshitaka Aoki, Hideaki Ito, Makoto Yoneda, Osamu Yokoyama   +4 more
doaj   +1 more source

A case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report

Journal of Medical Case Reports
Background Xeroderma pigmentosum is a rare autosomal recessive disorder characterized by hypersensitivity to ultraviolet light owing to mutation of nucleotide excision repair genes.
Birhanu Kassie Reta, Micheale Hailu Weldegebriel, Hindeya Hailu Hagos, Nebiat Zerabiruk Embaye, Welday Tadesse Fisseha, Kibra Sebuh Kidanemariam   +5 more
doaj   +1 more source

Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and syste [PDF]

, 2000
Exposure to UV-B radiation impairs immune responses in mammals by inhibiting especially Th1-mediated contact hypersensitivity and delayed-type hypersensitivity.
Boer, J. (Jan) de, Dijk, M. (Mariska) van, Fluitman, A., Garssen, J. (Johan), Gruijl, F.R. (Frank) de, Hoeijmakers, J.H.J. (Jan), Horst, G.T.J. (Gijsbertus) van der, Kranen, H. (Henk) van, Loveren, H. (Henk) van, Steeg, H. (Harry) van, Weeda, G. (Geert)   +10 more
core   +1 more source

Repair, abort, ignore? Strategies for dealing with UV damage [PDF]

, 2011
DNA repair is a prominent member of the nuclear transactions triad (replication, transcription, and repair). Sophisticated mechanisms govern the cellular process of decision-making (to repair or not to repair, to proceed with cell cycle or not and ...
Khalil, Hilal S., Tummala, Hemanth, Zhelev, Nikolai   +2 more
core   +3 more sources

XERODERMA PIGMENTOSUM. [PDF]

Journal of the American Medical Association, 1899
This "truly wonderful and terrible disease," as Dr. R. W. Taylor designates it, was first described by Hebra and Kaposi in their "Lehrbuch der Haulkrankheiten," in 1870. A disease peculiar to early life, presenting polymorphous symptoms, chronic and unending in its course, indelible in its disfigurements, prone even from its benign lesions to destroy ...
openaire   +1 more source