 Ataxia Telangiectasia
"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
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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, click here.
| Year | Major Topic | Minor Topic | Total |
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| 1995 | 2 | 0 | 2 | | 1996 | 1 | 0 | 1 | | 2004 | 0 | 1 | 1 | | 2005 | 0 | 1 | 1 | | 2008 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
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Minto H, Mensah KA, Reynolds PR, Meffre E, Rubtsova K, Gelfand EW. A novel ATM mutation associated with elevated atypical lymphocyte populations, hyper-IgM, and cutaneous granulomas. Clin Immunol. 2019 03; 200:55-63.
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Zhang Y, Lee JH, Paull TT, Gehrke S, D'Alessandro A, Dou Q, Gladyshev VN, Schroeder EA, Steyl SK, Christian BE, Shadel GS. Mitochondrial redox sensing by the kinase ATM maintains cellular antioxidant capacity. Sci Signal. 2018 07 10; 11(538).
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Roberts NJ, Jiao Y, Yu J, Kopelovich L, Petersen GM, Bondy ML, Gallinger S, Schwartz AG, Syngal S, Cote ML, Axilbund J, Schulick R, Ali SZ, Eshleman JR, Velculescu VE, Goggins M, Vogelstein B, Papadopoulos N, Hruban RH, Kinzler KW, Klein AP. ATM mutations in patients with hereditary pancreatic cancer. Cancer Discov. 2012 Jan; 2(1):41-6.
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McGrath-Morrow SA, Gower WA, Rothblum-Oviatt C, Brody AS, Langston C, Fan LL, Lefton-Greif MA, Crawford TO, Troche M, Sandlund JT, Auwaerter PG, Easley B, Loughlin GM, Carroll JL, Lederman HM. Evaluation and management of pulmonary disease in ataxia-telangiectasia. Pediatr Pulmonol. 2010 Sep; 45(9):847-59.
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McGrath-Morrow SA, Collaco JM, Crawford TO, Carson KA, Lefton-Greif MA, Zeitlin P, Lederman HM. Elevated serum IL-8 levels in ataxia telangiectasia. J Pediatr. 2010 Apr; 156(4):682-4.e1.
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McGrath-Morrow S, Lefton-Greif M, Rosquist K, Crawford T, Kelly A, Zeitlin P, Carson KA, Lederman HM. Pulmonary function in adolescents with ataxia telangiectasia. Pediatr Pulmonol. 2008 Jan; 43(1):59-66.
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Tyagi A, Singh RP, Agarwal C, Siriwardana S, Sclafani RA, Agarwal R. Resveratrol causes Cdc2-tyr15 phosphorylation via ATM/ATR-Chk1/2-Cdc25C pathway as a central mechanism for S phase arrest in human ovarian carcinoma Ovcar-3 cells. Carcinogenesis. 2005 Nov; 26(11):1978-87.
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Lange EM, Boehnke M. The haplotype runs test: the parent-parent-affected offspring trio design. Genet Epidemiol. 2004 Sep; 27(2):118-30.
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Xia Y, Welch CL, Warden CH, Lange E, Fukao T, Lusis AJ, Gatti RA. Assignment of the mouse ataxia-telangiectasia gene (Atm) to mouse chromosome 9. Mamm Genome. 1996 Jul; 7(7):554-5.
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Lange E, Borresen AL, Chen X, Chessa L, Chiplunkar S, Concannon P, Dandekar S, Gerken S, Lange K, Liang T, et al. Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Hum Genet. 1995 Jul; 57(1):112-9.
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