Published 1985
by University of Birmingham in Birmingham .
Written in
Edition Notes
Thesis (Ph.D.) - University of Birmingham, Dept of Cancer Studies.
| Statement | by Sarah V. Butterworth. |
| ID Numbers | |
|---|---|
| Open Library | OL14832813M |
Ellegaard J, Dimitrov NV. ATP-ase activity of lymphocytes from normal individuals and patients with cancer. Cancer. Oct; 30 (4)– Ersoy F, Berkel AI. Clinical and immunological studies in twenty families with ataxia-telangiectasia. Turk J Pediatr. Oct; 16 (4)– Ho by: 8. Ataxia-telangiectasia (A-T) is a complex multisystem disorder characterized by progressive neurological impairment, immunodeficiency and ocular and cutaneous telangiectasia. The overall aim of this study is to determine whether lymphocytes from A-T patients show abnormal levels of ROS and increased apoptosis and whether chronic broad Cited by: Ataxia-telangiectasia (A-T) is an autosomal recessive multisystem disorder characterized by progressive neurodegeneration, ocular and cutaneous telangiectasia, immunodeficiency, and premature aging. 1 A-T results from mutations in a single gene (ataxia-telangiectasia, mutated; ATM) on chromos encoding a large protein (ATM) that belongs to the family of phosphatydylinositol 3 Cited by: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity. A-T is often referred to as a genome instability or DNA damage response syndrome. The world-wide prevalence of A-T is estimated to be between 1 in 40, and 1 in , live births.
Ataxia telangiectasia (AT) is an autosomal recessive multisystem genetic disorder caused by a mutation in the ATM gene encoding for the ATM protein. AT systemic manifestations include cutaneous telangiectasias, radiosensitivity, immune deficiency with recurrent sinopulmonary infections, and a tendency to develop lymphoid malignancies. A derivative of an ataxia-telangiectasia (A-T) cell line with normal radiosensitivity but A-T-like inhibition of DNA synthesis. Int J Radiat Biol Relat Stud Phys Chem Med. Apr; 49 (4)– Leonhardt EA, Kapp LN, Young BR, Murnane JP. Nucleotide sequence analysis of a candidate gene for ataxia-telangiectasia group D (ATDC). Genomics. Ataxia telangiectasia mutated (ATM) is a member of the phosphatidylinositol-3 kinase-like protein kinase (PIKK) family, which are kinases that are activated in response to DNA damage (Shiloh, ; Savitsky et al., ). From: Movement Disorders (Second Edition), Ataxia-telangiectasia (A-T) is an autosomal recessive, complex, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocular and cutaneous telangiectasia (see image below), and a p.
Cytogenetic studies in two homozygous siblings with ataxia-telangiectasia show a high degree of endogenous chromosomal breakage in lymphocyte cultures. The responsiveness of the lymphocytes to phytohemagglutinin is impaired. Ataxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body. Signs and symptoms of the condition usually begin in early childhood, often before age 5. Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. ; Ataxia Telangiectasia in children. Guidance on diagnosis and clinical care. The Ataxia Telangiectasia Society October (). Definition of the disease: Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer.
