Results 111 to 120 of about 22,799 (245)

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

Melanosis lencutilaris progressiva (Pick), Xeroderma pigmentosum (Kaposi) [PDF]

, 1891
Edmund Stern
openalex   +1 more source

Xeroderma pigmentosum-Cockayne syndrome complex

Orphanet Journal of Rare Diseases, 2017
Xeroderma pigmentosum-Cockayne syndrome complex is a very rare multisystem degenerative disorder (Orpha: 220295; OMIM: 278730, 278760, 278780, 610651). Published information on XP-CS is mostly scattered throughout the literature.
Valerie Natale, Hayley Raquer
doaj   +1 more source

DNA Repair: Nucleotide excision–repair in the test tube [PDF]

, 1995
The eukaryotic nucleotide excision–repair pathway has been reconstituted in vitro, an achievement that should hasten the full enzymological characterization of this highly complex DNA-repair ...
Hoeijmakers, J.H.J., Jaspers, N.G.J.
core   +1 more source

DNA Repair Gene Polymorphisms May Be Associated with Prognosis of Upper Urinary Tract Transitional Cell Carcinoma

Neoplasia: An International Journal for Oncology Research, 2008
Upper urinary tract transitional cell carcinoma (UUT-TCC) is quite an uncommon disease, and its prognosis differs among individuals irrespective of tumor stage. DNA repair gene polymorphisms are reported to result in the modulation of the repair capacity
Miwa Sasaki, Shigeru Sakano, Naoko Okayama, Jumpei Akao, Tomohiko Hara, Yoshihisa Kawai, Chietaka Ohmi, Yuji Hinoda, Katsusuke Naito   +8 more
doaj   +1 more source

De Sanctis–Cacchione syndrome: A case report and literature review

International Journal of Women's Dermatology, 2015
De Sanctis–Cacchione (DSC) syndrome is one of the rarest, most severe forms of xeroderma pigmentosum (XP). These patients with XP are of short stature, have mental disabilities, and develop progressive neurologic degeneration because of a severe ...
Ziba Rahbar, MD, MPH, Mohsen Naraghi
doaj  

Generalized Pigmentation with Linear Atrophy. ? Xeroderma Pigmentosum [PDF]

, 1949
P.D. Samman
openalex   +1 more source

The TFIIH Subunit p89 (XPB) Localizes to the Centrosome during Mitosis

Cellular Oncology, 2010
Background: The general transcription factor II H (TFIIH), comprised of a core complex and an associated CAK-complex, functions in transcription, DNA repair and cell cycle control. Mutations of the two largest subunits, p89 (XPB) and p80 (XPD), cause the
Achim Weber, Hye-Jung Chung, Erik Springer, Dirk Heitzmann, Richard Warth   +4 more
doaj   +1 more source

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms [PDF]

, 2019
Xeroderma Pigmentosum (XP) encompasses a group of rare diseases characterised in most cases by nucleotide excision repair (NER) malfunction, resulting in an increased sensitivity to ultraviolet radiation in affected individuals.
Abeti, R, Fassihi, H, Giunti, P, Lehmann, AR, Peelo, C, Sarkany, RPE, Zeitberger, A   +6 more
core  

Xeroderma pigmentosum. Case presentation.

Medisur, 2008
Twelve years old patient (YGS), female, white, of rural origin; with history of facial and truncal bullae since the age of eight months when exposed to the sun light. It was first diagnosed as solar dermatitis.
Damaris Díaz Leonard, Arelis Herrera Alonso, Magdalena Vigera Fajardo   +2 more
doaj   +2 more sources