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Novel Variants in ATM Causing Mild Ataxia-Telangiectasia: From Benchside to Bedside and Back Again
(Wiley Blackwell Publishing, Inc, 2020-07)
Ataxia-telangiectasia (A-T) is one of the most frequent recessive ataxias worldwide. The disease results from biallelic pathogenic variants in ATM gene, coding for a high-molecular-weight protein kinase involved in ...
Ataxia-telangiectasia (síndrome de Louis-Bar)
(Sociedad Uruguaya de Pediatría, 2006)
Ataxia Telangiectasia.
(2015)
Novel Compound Heterozygous Mutation c.3955_3958dup and c.5825C>T in the ATM Gene: Clinical Evidence of Ataxia-Telangiectasia and Cancer in a Peruvian Family.
(Karger, 2021)
Pathogenic and likely pathogenic variants in the ATM gene are associated both with Ataxia-telangiectasia disease or ATM syndrome and an increased cancer risk for heterozygous carriers. We identified a novel compound ...
Efecto de la vitamina E(DL alfa-tocoferol) sobre el daño cromosómico en linfocitos de pacientes con ataxia telangiectasia
(Sociedad Médica de Santiago, 2002)
Effect of vitamin E (DL α-tocopherol) on chromosomal damage in lymphocytes from patients with ataxia telangiectasia Efecto de la vitamina E (DL α-tocoferol) sobre el daño cromosómico en linfocitos de pacientes con ataxia telangiectasia
(2002)
Background: In ataxia telangiectasia (A-T), the lack of a functional ATM kinase is associated with disturbances in the processing of DNA damage and a chronic oxidative stress. These disturbances may be responsible for an ...
Human syndromes with genomic instability and multiprotein machines that repair DNA double-strand breaks
(2003)
The present report deals with the functional relationships among protein complexes which, when mutated, are responsible for four human syndromes displaying cancer proneness, and whose cells are deficient in DNA double-strand ...
Linfócitos T auxiliares foliculares e subpopulações de linfócitos B em pacientes com ataxia-telangiectasia
(Universidade Federal de São Paulo, 2023-05-04)
Objetivo: Avaliar as células T auxiliares foliculares e as subpopulações de células B em pacientes com ataxia-telangiectasia. Métodos: Foram selecionados 11 pacientes com a forma clássica da ataxia-telangiectasia e 10 ...
Ataxia telangiectasia: effects of cycloheximide on G2 repair of chromosome damage in lymphocytes cultured in vitro Ataxia telangiectasia: efectos de cicloheximida en la reparacion del daño cromosomico durante G2 en linfocitos cultivados in vitro.
(1992)
The chromosomal sensitivity to the spontaneous and induced DNA damage detected in lymphocytes from patients affected with ataxia telangiectasia (AT) might be related with disturbances in DNA repair mechanisms. We have ...