"Ataxia Telangiectasia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
| Descriptor ID |
D001260
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| MeSH Number(s) |
C10.228.140.252.190.530.060 C10.562.100 C10.597.350.090.500.530.060 C14.907.823.213 C16.320.080 C18.452.284.060 C20.673.290
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| Concept/Terms |
Ataxia Telangiectasia- Ataxia Telangiectasia
- Ataxia-Telangiectasia
- Telangiectasia, Cerebello-Oculocutaneous
- Ataxia Telangiectasia Syndrome
- Syndrome, Ataxia Telangiectasia
- Louis-Bar Syndrome
- Louis Bar Syndrome
- Syndrome, Louis-Bar
|
Below are MeSH descriptors whose meaning is more general than "Ataxia Telangiectasia".
Below are MeSH descriptors whose meaning is more specific than "Ataxia Telangiectasia".
This graph shows the total number of publications written about "Ataxia Telangiectasia" by people in this website by year, and whether "Ataxia Telangiectasia" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2009 | 1 | 0 | 1 |
| 2017 | 4 | 0 | 4 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
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Individual Radiosensitivity Assessment of the Families of Ataxia-Telangiectasia Patients by G2-Checkpoint Abrogation. Sultan Qaboos Univ Med J. 2018 Nov; 18(4):e440-e446.
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Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study. Eur J Neurol. 2018 06; 25(6):833-840.
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Atm reactivation reverses ataxia telangiectasia phenotypes in vivo. Cell Death Dis. 2018 02 22; 9(3):314.
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Ataxia telangiectasia syndrome: moonlighting ATM. Expert Rev Clin Immunol. 2017 12; 13(12):1155-1172.
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Genetic ataxia telangiectasia porcine model phenocopies the multisystemic features of the human disease. Biochim Biophys Acta Mol Basis Dis. 2017 11; 1863(11):2862-2870.
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A new ataxia-telangiectasia mutation in an 11-year-old female. Immunogenetics. 2017 07; 69(7):415-419.
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Role of ataxia-telangiectasia mutated in hydrogen peroxide preconditioning against oxidative stress in Neuro-2a cells. Mol Med Rep. 2017 Jun; 15(6):4280-4285.
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Two-tier analysis of histone H2AX phosphorylation allows the identification of Ataxia Telangiectasia heterozygotes. Radiother Oncol. 2009 Jul; 92(1):133-7.
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Evidence that defective gamma interferon production in patients with primary immunodeficiencies is due to intrinsic incompetence of lymphocytes. Clin Exp Immunol. 1988 Apr; 72(1):124-9.