Targeting ATM pathway for therapeutic intervention in cancer [PDF]
, 2012 The Ataxia Telangiectasia Mutated gene encodes the ATM protein, a key element in the DNA damage response (DDR) signalling pathway responsible for maintaining genomic integrity within the cell.
Chakarov, Stoyan +4 more
core +3 more sources
Disorders of Upper Limb Movements in Ataxia-Telangiectasia. [PDF]
PLoS ONE, 2013 Ataxia-telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest involvement of the network between cerebellum and basal ganglia.
Aasef G Shaikh +4 more
doaj +1 more source
Chromosome breakage after G2 checkpoint release [PDF]
, 2006 DNA double-strand break (DSB) repair and checkpoint control represent distinct mechanisms to reduce chromosomal instability. Ataxia telangiectasia (A-T) cells have checkpoint arrest and DSB repair defects. We examine the efficiency and interplay of ATM's
Beucher, Andrea +8 more
core +4 more sources
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
Tremor and Other Hyperkinetic Movements, 2016 Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj +1 more source
Ataxia-telangiectasia With Acute Rheumatic Fever: A Case Report [PDF]
Journal of Pediatrics Review, 2023 Background: Ataxia-telangiectasia is a multi-organ disease. It is due to a mutation of the Exon No. 5 ataxia telangiectasia mutated gene (c.381delA: p.v128fls).
Mohammad Reza Khosravi +4 more
doaj
Investigations into the molecular effects of single nucleotide polymorphism [PDF]
, 2000 Objectives: DNA sequences are very rich in short repeats and their pattern can be altered by point mutations. We wanted to investigate the effect of single nucleotide polymorphism (SNP) on the pattern of short DNA repeats and its biological consequences.
Lohrer, Horst D., Tangen, Uwe
core +1 more source
Frontiers in Neurology, 2023 Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek +5 more
doaj +1 more source
Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]
, 2011 Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
core +2 more sources
Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome [PDF]
, 1992 Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer.
Abeliovicz, D. (Dvorah) +13 more
core +5 more sources
Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report
Indian Journal of Pathology and Microbiology, 2023 Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity, and cancers particularly of hemato ...
Tej P Singh +3 more
doaj +1 more source