Results 81 to 90 of about 53,969 (208)

Aspectos diagnósticos, moleculares y terapéuticos de la ataxia telangiectasia Diagnostic, mollecular and therapeutic aspects of ataxia telangiectasia

Revista Cubana de Hematología, Inmunología y Hemoterapia, 2003
La ataxia telangiectasia es una enfermedad multisistémica causada por mutaciones en el gen de la ataxia telangiectasia mutado (ATM), localizado en el locus 11 q22-23, que dan lugar a deficiencias en la expresión de la proteína de la ataxia telangiectasia
Vianed Marsán Suárez, Lázaro O del Valle Pérez, Miriam Sánchez Segura, Consuelo Macías Abraham   +3 more
doaj  

A rad50 germline mutation induces tumorigenesis and ataxia-telangiectasia phenotype in a transparent medaka model

PLoS ONE, 2023
The MRE11A-RAD50-NBS1 complex activates the ataxia-telangiectasia mutated (ATM) pathway and plays a central role in genome homeostasis. The association of RAD50 mutations with disease remains unclear; hence, we adopted a medaka rad50 mutant to ...
Shinichi Chisada, Kouki Ohtsuka, Masachika Fujiwara, Masao Yoshida, Satsuki Matsushima, Takashi Watanabe, Kanae Karita, Hiroaki Ohnishi   +7 more
doaj  

Accurate diagnostics of ataxia-telangiectasia cellular phenotype by employing in vitro lymphocyte radiosensitivity testing [PDF]

Nuclear Technology and Radiation Protection, 2013
In this paper we present the data of lymphocyte radiosensitivity testing used for characterization of radiosensitive cellular phenotype and diagnostics of ataxia-telangiectasia disease. We point out the advantage of lymphocyte micronucleus test (CBMN)
Vujić Dragana S., Petrović Sandra Ž., Leskovac Andreja R., Joksić Ivana D., Filipović Jelena G., Valenta-Šobot Ana P.   +5 more
doaj   +1 more source

Poly(ADP-Ribosyl)ation affects stabilization of CHE-1 protein in response to DNA damage [PDF]

, 2011
Post-translation modifications play a crucial role in coordinating the cellular response to DNA damage. Double strand DNA breaks (DSBs) trigger the activation of ATM and Chk2 kinases, which represent the primary transducers in the signalling cascade ...
BACALINI, MARIA GIULIA
core  

Growth and nutrition in children with Ataxia telangiectasia [PDF]

, 2016
Background: Ataxia telangiectasia (A-T) is a rare multisystem disease with high early mortality from lung disease and cancer. Nutritional failure adversely impacts outcomes in many respiratory diseases.
Alison Tooke, Andrew P Prayle, Andy Bush, Bar, Bhatt, Bresnahan, Corey, Crawford, da Silva, Ehlayel, Emma Stewart, Girardet, Jayesh M Bhatt, Ledder, Lefton-Greif, Lefton-Greif, Mahant, Mohnish Suri, Morrell, Notarangelo, Peretz, Ramírez, Robinson, Ross, Sara Pasalodos, Schalch, Schubert, Sharma, Sharon, Sy, Voss, Walker, Woods   +32 more
core   +1 more source

Potential neuroprotective and therapeutic agents and their mechanisms for irradiation‐induced brain injury

Ibrain, EarlyView.
In this review, agents such baicalein, troxerutin, epigallocatechin gallate, quercetin, melatonin, valproic acid, lithium, neurosteroid progesterone, as well as minocycline have been implicated as neuroprotective agents for irradiation‐induced neurological deficits. Also, agents such as glucocorticoids, methylphenidate, vitamin E, bisdemethoxycurcumin,
Seidu A. Richard, Vivian Kapio Abem, Sagor Kumar Roy   +2 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Radiation-induced Assembly of Rad51 and Rad52 Recombination Complex Requires ATM and c-Abl [PDF]

, 1999
Cells from individuals with the recessive cancer-prone disorder ataxia telangiectasia (A-T) are hypersensitive to ionizing radiation (I-R). ATM (mutated in A-T) is a protein kinase whose activity is stimulated by I-R. c-Abl, a nonreceptor tyrosine kinase,
Arlinghaus, Ralph, Baltimore, David, Chen, Gang, Cong, Feng, Gasser, Paul J., Goff, Stephen P., Lee, Eva Y.-H. P., Liu, Wei, Park, Min S., Song, Binwei, Sung, Patrick, Trujillo, Kelly, Wu, Yun, Xu, Yang, Yuan, Shyng-Shiou F.   +14 more
core   +1 more source

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

MRE11 facilitates the removal of human topoisomerase II complexes from genomic DNA [PDF]

, 2012
Topoisomerase II creates a double-strand break intermediate with topoisomerase covalently coupled to the DNA via a 5'-phosphotyrosyl bond. These intermediate complexes can become cytotoxic protein-DNA adducts and DSB repair at these lesions requires ...
Austin, Caroline, Cockell, Simon, Cowell, Ian, Curtis, Hannah, Jackson, Graham, Lee, Ka Cheong, Moiani, Davide, Morris, Nicholas, Padget, Kay, Sondka, Zbyslaw, Tainer, John   +10 more
core   +3 more sources