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A-TAtaxia Telangiectasia (form of muscular weakness)
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Mutations, or defects, in HRR pathway genes - which include ataxia telangiectasia mutated (ATM) and BRCA1/2 genes - increase the risk for breast, ovarian, pancreatic, prostate and other cancers.
The patient was followed-up for ataxia telangiectasia, a recessively inherited rare systemic disorder that results in a progressive neurological decline.
Leo, a Closter resident is the mother of two who have been diagnosed with Ataxia Telangiectasia (A-T), a rare, progressive neurological disorder that affects about 600 people in the United States.
CCNDI, CDK6, p21, p53, Caspase-3 (CASP-3), Caspase-8 (CASP-8, Caspase-9 (CASP9), BCL-2, Ataxia Telangiectasia Mutated (ATM), Ataxia Telangiectasia and Rad-3 Related (ATP), BAX, Checkpoint kinase 1-2 (CHEK1, CHEK2) and Excision repair cross-complementing I (EPCCI) gene expression analyses were performed using the StepOnePlus quantitative RTPCR system (Applied-Biosystems, USA) with respect to SYBR Green (Thermo-Scientific, USA) method.
The acquired ataxia telangiectasia and Rad3-related protein kinase inhibitor program covers two clinical-stage compounds, VX-970 and VX-803.
Granuloma was observed in two of our patients who had ataxia telangiectasia and RAG2 mutation.
(2) These include, among others, the DiGeorge anomaly, Charge syndrome, ataxia telangiectasia, trisomies 18 and 21, and many other genetic syndromes with impaired T cell development.
Ataxia Telangiectasia (AT) is an autosomal recessive syndrome characterised by progressive cerebellar ataxia, immune-deficiency, which usually takes the form of sinopulmonary infections, oculocutaneous telangiectasia, Xray hypersensitivity and predisposition to lymphoid malignancies.
The global primary immunodeficiency diseases market report estimates the market size (Revenue USD million - 2013 to 2020) for key market segments based on the disease types (antibody deficiency - agammaglobulinaemia, common variable immune deficiency, IgG subclass deficiency, SIgAD; cellular immunodeficiency - ataxia telangiectasia, DiGeorge syndrome, hyper IgM syndromes, Wiskott-Aldrich syndrome; innate immune disorders - complement deficiencies, and hyper IgE syndrome) and test types (blood and prenatal testing), treatment types (immunoglobulin replacement therapy, antibiotics therapy, stem cell and gene therapy, etc.), and forecasts growth trends (CAGR% - 2016 to 2020).
Palazzo et al., "Chromosome instability and oxidative stress markers in patients with ataxia telangiectasia and their parents," BioMed Research International, vol.
Background: Caffeine suppresses ataxia telangiectasia and Rad3 related and ataxia telangiectasia mutated (ATM) activities; ATM is the major kinase for DNA damage detection.
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