Results 71 to 80 of about 35,381 (234)
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 +7 more
doaj
Clinical Association of Ataxia Telangiectasia-Like Disorder 1 with an Uncertain Significance Variant in the MRE11 Gene: A Case Report [PDF]
Reviews in Clinical MedicineObjective: Ataxia telangiectasia-like disorder (ATLD) is a rare autosomal recessive disorder caused by mutations in the MRE11 gene. The diagnosis of patients with Ataxia telangiectasia-like disorder and Ataxia telangiectasia may be challenging due to ...
Bita Barazandeh Shirvan +7 more
doaj +1 more source
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. +5 more
doaj +1 more source
Ataxia-Telangiectasia — Caso Clínico
, 2014 A ataxia-telangiectasia é uma doença multissistémica complexa caracterizada por ataxia cerebelosa progressiva, apraxia oculomotora, telangiectasias oculocutâneas e imunodeficiência primária envolvendo de modo variável a imunidade celular e humoral.
Marques, Laura +3 more
core +1 more source
Repurposing Drugs for Malaria through a Human Dose Prediction: A Case Study with Berzosertib
Clinical Pharmacology &Therapeutics, EarlyView.Repurposing drugs whose clinical safety has been established offers a valuable approach to reduce the cost and time associated with the development of new drugs for malaria. Here, we investigate the potential to repurpose the anticancer kinase inhibitor berzosertib for the treatment of malaria, by assessing whether a predicted efficacious human dose ...
Devasha Redhi +5 more
wiley +1 more source
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 +11 more
wiley +1 more source
, 2010 Ataxia-Telangiectasia (A-T) is a recessive hereditary syndrome characterized by cerebellar degeneration, telangiectasia, precocious aging, immunodeficiency, cancer predisposition and insulin-resistant diabetes.
Palazzo, Luca
core
International Journal of Cancer, EarlyView.ABSTRACT Clinical trials combining radiotherapy (RT) with immune checkpoint blockade (ICB) have shown improved outcomes in only a fraction of patients, and optimal strategies for integrating these modalities remain under intense investigation. With a few exceptions, phase III combination trials have yielded disappointing results.
Xuanwei Zhang +10 more
wiley +1 more source
International Journal of Cancer, EarlyView.ABSTRACT Pancreatic ductal adenocarcinoma (PDAC) remains one of the deadliest cancers due to its asymptomatic progression, late‐stage diagnosis, and treatment resistance. Efforts in early detection have centered on identifying imaging features and liquid biopsy biomarkers capable of detecting PDAC and its high‐grade precursors before clinical symptoms ...
Christine Worthington +105 more
wiley +1 more source
Çocuk DergisiAtaxia Telangiectasia (AT) is a rare, autosomal recessive neurodegenerative disorder characterized by immunodeficiency. Clinically, it is known to be associated with progressive cerebellar ataxia starting in early childhood, oculocutaneous telangiectasia,
Hikmet Gülşah Tanyıldız +4 more
doaj +1 more source