ataxia telangiectasia การใช้

• The gene is called ATM ( for ataxia telangiectasia mutated ).
• Another condition, the gene for which was discovered earlier this year, is ataxia telangiectasia.
• One of the hallmarks of ataxia telangiectasia is that cells of patients are extremely sensitive to radiation.
• It may also function in the suppression of radiosensitivity since it is associated with ataxia telangiectasia phenotype.
• CHD4 has been shown to interact with HDAC1, Histone deacetylase 2, MTA2, and Ataxia telangiectasia and Rad3 related.
• The inherited neurological disorders Machado Joseph disease, ataxia telangiectasia, and Friedreich's ataxia cause progressive neurodegeneration linked to cerebellar loss.
• These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.
• One of Charves's daughters has ataxia telangiectasia, a deadly genetic disease that afflicts only about 650 children in the United States.
• There is an increased incidence in people with Down syndrome, Fanconi anemia, Bloom syndrome, ataxia telangiectasia, X-linked agammaglobulinemia, and severe combined immunodeficiency.
• The defect also causes a rare and fatal childhood disease called AT ( ataxia telangiectasia ), which affects neurological and immune function.
• Examples of autosomal recessive cancer syndromes are ataxia telangiectasia, Bloom syndrome, Fanconi anemia, MUTYH-associated polyposis, Rothmund-Thomson syndrome, Werner's syndrome and Xeroderma pigmentosum.
• These are ataxia with oculomotor apraxia type 1 ( AOA1 ), ataxia with oculomotor apraxia 2 ( AOA2 ), and ataxia telangiectasia.
• Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and, although not all, some patients show head thrusts,.
• Ataxia telangiectasia ( AT ) is a rare human disease characterized by cerebellar degeneration, extreme cellular sensitivity to radiation and a predisposition to cancer.
• Mutations in ATR are responsible for Seckel syndrome, a rare human disorder that shares some characteristics with ataxia telangiectasia, which results from ATM mutation.
• For instance two dominant-negative germ line mutations were identified in the Ataxia telangiectasia mutated ( ATM ) gene which increases susceptibility to breast cancer.
• In a randomized controlled trial betamethasone was shown to reduce some of the ataxia symptoms associated with ataxia telangiectasia ( A-T ) by 28-31 %.
• In the presence of ionizing radiation ( IR ), the Smc1 subunit of cohesin is phosphorylated by the ataxia telangiectasia mutated ( ATM ) kinase.
• Even though ataxia telangiectasia is an autosomal recessive disorder, people who are heterozygotes for this still have an increased risk of developing a lymphoproliferative disorder.
• The cancers associated with the gene, called the ATM ( for ataxia telangiectasia mutated ), include those of the breast, lung, stomach, skin and pancreas.