Results 91 to 100 of about 35,381 (234)
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
NeuroImage: Clinical, 2015 Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama +7 more
doaj +1 more source
Ataxia telangiectasia bemutatása egy eset kapcsán
, 2017 Az ataxia telangiectasia egy nagyon heterogén és ritka kórkép, melynek incidenciája 1:20000. Az Egyesült Államokban élő kaukázusi populáció 1,4-2 %-a hordozó.
Bunkóczi, Csilla
core
, 2022 Ataxia telangiectasia (A-T) is a rare neurodegenerative immunodeficiency syndrome, characterised eponymously by progressive cerebellar ataxia and telangiectatic vessels, most often cutaneous. A-T displays autosomal recessive inheritance, is characterised
Perry, C, Kimble, R
core +1 more source
Pediatric Dermatology, EarlyView.ABSTRACT The rubella virus vaccine strain can cause granulomas in patients with inborn errors of immunity that may evolve into chronic, recalcitrant ulcers. This report details treatment of ulcerated rubella granulomas in a patient with ataxia telangiectasia with doxycycline and hydroxychloroquine resulting in partial ulcer healing within 4 weeks ...
Luis Murguía‐Favela +6 more
wiley +1 more source
Walsh & Hoyt: Ataxia-Telangiectasia
, 2005 Ataxia-telangiectasia (A-T) is characterized by oculocutaneous telangiectasia, progressive cerebellar ataxia, recurrent sinopulmonary infections, hypersensitivity to ionizing radiation, and a high incidence of lymphoreticular neoplasms.
John Kerrison, MD
core +1 more source
Síndrome de Ataxia-Telangiectasia Ataxia-telangiectasia: a case report
Arquivos de Neuro-Psiquiatria, 1971 A ataxia-telangiectasia, doença de Mme. Louis-Bar, é caracterizada pela associação de ataxia cerebelar progressiva, em geral com início na primeira infância, telangiectasas óculo-cutâneas, movimentos coreoatetósicos, tendência a infecções repetidas do ...
Amauri Batista da Silva +4 more
doaj
Jornal de Pediatria, 2006 OBJETIVO: Estudar a produção de anticorpos a antígenos polissacarídicos em pacientes com ataxia-telangiectasia CASUÍSTICA E MÉTODO: Utilizando a técnica de ELISA, determinamos os níveis de IgG aos sorotipos 1, 3, 5, 6B, 9V e 14 do pneumococo em 14 ...
Maria Cristina Guerra-Maranhão +7 more
doaj +1 more source
RAD51 and RAD51 paralog inhibition sensitizes nonreplicating quiescent keratinocytes to UV radiation
Photochemistry and Photobiology, EarlyView.UV radiation and other compounds generate DNA adducts that block transcription and induce cell death if not removed by the nucleotide excision repair system. In this work, we used a small‐scale pharmacological screen to discover that inhibition of the recombinase RAD51 sensitized nonreplicating quiescent keratinocytes to both UVR and other agents that ...
Saman Khan +3 more
wiley +1 more source
Born early, age fast: Consequences of premature birth on chronic disease and accelerated ageing
The Journal of Physiology, EarlyView.Abstract figure legend ELGANs are exposed to several postnatal pro‐oxidant stressors, including ambient and supplemental oxygen, mechanical ventilation, infections, hyperalimentation, excessive glucocorticoids and intermittent hypoxia. Since endogenous antioxidant defences are underdeveloped, this imbalance promotes oxidative stress and inflammation ...
Estelle B. Gauda +5 more
wiley +1 more source
Mre11 assembles linear DNA fragments into DNA damage signaling complexes.
PLoS Biology, 2004 Mre11/Rad50/Nbs1 complex (MRN) is essential to suppress the generation of double-strand breaks (DSBs) during DNA replication. MRN also plays a role in the response to DSBs created by DNA damage.
Vincenzo Costanzo +3 more
doaj +1 more source