Results 21 to 30 of about 53,964 (227)

Targeting ATM pathway for therapeutic intervention in cancer [PDF]

, 2012
The Ataxia Telangiectasia Mutated gene encodes the ATM protein, a key element in the DNA damage response (DDR) signalling pathway responsible for maintaining genomic integrity within the cell.
Chakarov, Stoyan, Khalil, Hilal S., Lane, David P., Tummala, Hemanth, Zhelev, Nikolai   +4 more
core   +3 more sources

DNA repair: Disorders [PDF]

, 2010
No description ...
Bose, Burg, Caldecott, Chu, Digweed, Fernandez-Capetillo, Fousteri, Fousteri, Friedberg, Gudmundsdottir, Hashimoto, Hoeijmakers, Jiricny, Kraemer, Lavin, Lehmann, Lieber, Ma, Masutani, McCulloch, Meindl, Moldovan, Moshous, Nance, Nouspikel, O'Driscoll, O'Driscoll, O'Driscoll, O'Driscoll, Rass, Stefanini, Stewart, Stracker, Taylor, Vaz, Wu, Zlatanou   +36 more
core   +1 more source

Ataxia-Telangiectasia

, 1993
Juan Orellana, Alan H. Friedman
openaire   +2 more sources

Recessive mutations in the cancer gene Ataxia Telangiectasia Mutated (ATM), at a locus previously associated with metformin response, cause dysglycaemia and insulin resistance [PDF]

, 2016
Aim: To investigate glucose and insulin metabolism in participants with ataxia telangiectasia in the absence of a diagnosis of diabetes. Methods: A standard oral glucose tolerance test was performed in participants with ataxia telangiectasia (n ...
Cremona, Halaby, Madiraju, Matsuda, Matuoka, Miles, Morio, Otten, Rena, Schalch, Schiekofer, Schneider, Takagi, The GoDARTS and UKPDS Diabetes Pharmacogenetics Study Group & The Wellcome Trust Case Control Consortium 2, Yang   +14 more
core   +3 more sources

Endogenous topoisomerase II-mediated DNA breaks drive thymic cancer predisposition linked to ATM deficiency [PDF]

, 2020
The ATM kinase is a master regulator of the DNA damage response to double-strand breaks (DSBs) and a well-established tumour suppressor whose loss is the cause of the neurodegenerative and cancer-prone syndrome Ataxia-Telangiectasia (A-T).
Bernal Lozano, Cristina, Cortés Ledesma, Felipe, Delgado Sainz, Irene, García Quintanilla, Lourdes, Jimeno González, Silvia, Martínez García, Pedro Manuel, Quintero, Cristina, Romero Granados, Rocío, Serrano Benítez, Almudena, Terrón Bautista, José, Álvarez Quilón, Alejandro   +10 more
core   +3 more sources

ATM deficiency results in accumulation of DNA-Topoisomerase I covalent intermediates in neural cells [PDF]

, 2013
Accumulation of peptide-linked DNA breaks contributes to neurodegeration in humans. This is typified by defects in tyrosyl DNA phosphodiesterase 1 (TDP1) and human hereditary ataxia.
Alagoz, Meryem, Chiang, Shih-Chieh, El-Khamisy, Sherif F, Sharma, Abhishek   +3 more
core   +2 more sources

Infections in Ataxia-Telangiectasia

Pediatric Neurology Briefs, 2004
Immunodeficiency and infections were determined in 100 consecutive patients with ataxia-telangiectasia (A-T) seen at the Johns Hopkins Ataxia-Telangiectasia Clinical Center.
J Gordon Millichap
doaj   +1 more source

The tumor-promoting functions of Ataxia-telangiectasia mutated (ATM) in cancer cells [PDF]

, 2015
textAtaxia-telangiectasia mutated (ATM) protein kinase regulates the DNA damage response (DDR) and is associated with cancer suppression by protecting cells from DNA double-strand breaks (DSBs). However, how ATM functions outside of DSB signaling is less
Chen, Wei-Ta, active 21st century
core   +1 more source

Management of a pediatric patient with ataxia telangiectasia: Report of a rare case in which diagnostic radiographs are contraindicated

Journal of Family Medicine and Primary Care, 2020
Ataxia telangiectasia is a rare neurodegenerative autosomal recessive multisystem disorder which has been reported only once in the dental literature.
Mebin George Mathew
doaj   +1 more source

Ataxia-Telangiectasia Mutated and the Mre11-Rad50-NBS1 Complex:Promising Targets for Radiosensitization [PDF]

, 2012
Radiotherapy plays a central part in cancer treatment, and use of radiosensitizing agents can greatly enhance this modality. Although studies have shown that several chemotherapeutic agents have the potential to increase the radiosensitivity of tumor ...
Fujiwara, Toshiyoshi, Kuroda, Shinji, Urata, Yasuo   +2 more
core   +1 more source