Results 101 to 110 of about 10,371 (225)

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

Transcription‐coupled repair – mechanisms of action, regulation, and associated human disorders

FEBS Letters, Volume 599, Issue 2, Page 166-167, January 2025.
Abstract
Yuka Nakazawa, Yasuyoshi Oka, Tomoko Matsunaga, Tomoo Ogi   +3 more
wiley   +1 more source

An update on autophagy disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Macroautophagy is a highly conserved cellular pathway for the degradation and recycling of defective cargo including proteins, organelles, and macromolecular complexes. As autophagy is particularly relevant for cellular homeostasis in post‐mitotic tissues, congenital disorders of autophagy, due to monogenic defects in key autophagy genes ...
Hormos Salimi Dafsari, Diego Martinelli, Afshin Saffari, Darius Ebrahimi‐Fakhari, Manolis Fanto, Carlo Dionisi‐Vici, Heinz Jungbluth   +6 more
wiley   +1 more source

Cockayne Syndrome Protein B Interacts with and Is Phosphorylated by c-Abl Tyrosine Kinase [PDF]

, 2011
The Cockayne Syndrome group B (CSB) protein plays important roles in transcription, transcription-coupled nucleotide excision repair and base excision DNA repair.
Bohr, Vilhelm A., Cheng, Wen-Hsing, Indig, Fred E., Inman, Syed Z., Kufe, Donald William, Saxena, Satya P., Stevnsner, Tinna   +6 more
core   +1 more source

Neonatal onset Cockayne syndrome: A rare photogenodermatosis

Indian Journal of Paediatric Dermatology, 2016
Cockayne syndrome (CS) is a rare genodermatosis with autosomal recessive inheritance and around 180 cases have been reported worldwide. It results from mutation in genes ERCC8 and ERCC6 coding for proteins involved in transcription-coupled repair.
A L Senthil Kumar, C Aruna, K Swapna, D Ramamurthy   +3 more
doaj   +1 more source

The role of Cockayne Syndrome Protein B in transcription regulation

Genomics Data, 2014
We investigated the question if CSB (Cockayne Syndrome complementation B) protein actively regulates gene transcription and how mutations in CSB gene affect that regulatory role.
Jieun Jeong
doaj   +1 more source

A New Disorder in UV-Induced Skin Cancer with Defective DNA Repair Distinct from Xeroderma Pigmentosum or Cockayne Syndrome [PDF]

, 2008
We report the characterization of a Japanese woman who exhibited many freckles and skin cancers in sun-exposed areas, but displayed no photosensitivity.
Egawa, Kiyofumi, Hashimoto, Satoru, Igarashi, Ai, Ihn, Hironobu, Matsunaga, Tsukasa, Tateishi, Satoshi, Yamaizumi, Masaru   +6 more
core   +1 more source

Cockayne syndrome: report of a Brazilian family with confirmation of impaired RNA synthesis after UV-irradiation

Genetics and Molecular Biology, 2000
Cockayne syndrome (CS) is an autosomal recessive disorder characterized by dwarfism, growth deficiency, neurological deterioration, skin photosensitivity and a characteristic progressive facial appearance.
Simone M. Karam, Jaderson C. Costa, Laura Jardim, Ricardo F. Pires, Alan R. Lehmann, Roberto Giugliani   +5 more
doaj   +1 more source

Peripheral Mediators of Colorectal Nociception and Sensitization [PDF]

, 2012
Several ion channels are thought to facilitate colorectal afferent neuron sensitization, which contributes to abdominal pain in irritable bowel syndrome (IBS).
Kiyatkin, Michael E
core  

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome [PDF]

, 2015
Nucleotide Excision Repair (NER) is a pathway that removes lesions distorting the DNA helix. The molecular basis of the rare diseases Xeroderma pigmentosum (XP) and Cockayne Syndrome (CS) are explained based on the defects happening in 2 NER branches ...
Aguilera López, Andrés, Herrera Moyano, Emilia, Moriel Carretero, María   +2 more
core   +1 more source