"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.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2005 | 0 | 1 | 1 |
| 2006 | 0 | 1 | 1 |
| 2008 | 1 | 0 | 1 |
| 2019 | 0 | 1 | 1 |
| 2023 | 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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Sible E, Attaway M, Fiorica G, Michel G, Chaudhuri J, Vuong BQ. Ataxia Telangiectasia Mutated and MSH2 Control Blunt DNA End Joining in Ig Class Switch Recombination. J Immunol. 2023 02 15; 210(4):369-376.
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Buchbinder D, Hauck F, Albert MH, Rack A, Bakhtiar S, Shcherbina A, Deripapa E, Sullivan KE, Perelygina L, Eloit M, Neven B, P?rot P, Moshous D, Suarez F, Bodemer C, Bonilla FA, Vaz LE, Krol AL, Klein C, Seppanen M, Nugent DJ, Singh J, Ochs HD. Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders. J Clin Immunol. 2019 01; 39(1):81-89.
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Ivonye C, Jamched U, Anderson D, Adesunloye B. Uncommon skin lesion in a patient with ataxia-telangiectasia. Int J Dermatol. 2008 Oct; 47(10):1051-2.
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Bredemeyer AL, Sharma GG, Huang CY, Helmink BA, Walker LM, Khor KC, Nuskey B, Sullivan KE, Pandita TK, Bassing CH, Sleckman BP. ATM stabilizes DNA double-strand-break complexes during V(D)J recombination. Nature. 2006 Jul 27; 442(7101):466-70.
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Wu D, Yang H, Xiang W, Zhou L, Shi M, Julies G, Laplante JM, Ballard BR, Guo Z. Heterozygous mutation of ataxia-telangiectasia mutated gene aggravates hypercholesterolemia in apoE-deficient mice. J Lipid Res. 2005 Jul; 46(7):1380-7.