"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
|
| 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
|
| 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 |
|---|
| 1994 | 1 | 0 | 1 |
| 1995 | 1 | 0 | 1 |
| 1996 | 0 | 1 | 1 |
| 1997 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2000 | 1 | 2 | 3 |
| 2001 | 1 | 1 | 2 |
| 2004 | 2 | 0 | 2 |
| 2006 | 0 | 1 | 1 |
| 2007 | 1 | 0 | 1 |
| 2009 | 1 | 1 | 2 |
| 2011 | 3 | 0 | 3 |
| 2012 | 3 | 0 | 3 |
| 2015 | 1 | 0 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 3 | 1 | 4 |
| 2022 | 1 | 0 | 1 |
| 2023 | 3 | 0 | 3 |
| 2024 | 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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Venetoclax use in a patient with ataxia telangiectasia and early T-cell precursor acute lymphoblastic leukemia. Pediatr Blood Cancer. 2024 Aug; 71(8):e31123.
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Potentiating the radiation-induced type I interferon antitumoral immune response by ATM inhibition in pancreatic cancer. JCI Insight. 2024 Feb 20; 9(6).
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ATM Mutations Associate with Distinct Co-Mutational Patterns and Therapeutic Vulnerabilities in NSCLC. Clin Cancer Res. 2023 12 01; 29(23):4958-4972.
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Camonsertib in DNA damage response-deficient advanced solid tumors: phase 1 trial results. Nat Med. 2023 Jun; 29(6):1400-1411.
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Galectin-9 blockade synergizes with ATM inhibition to induce potent anti-tumor immunity. Int J Biol Sci. 2023; 19(3):981-993.
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Central Nervous System Distribution of the Ataxia-Telangiectasia Mutated Kinase Inhibitor AZD1390: Implications for the Treatment of Brain Tumors. J Pharmacol Exp Ther. 2022 10; 383(1):91-102.
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Preclinical Risk Evaluation of Normal Tissue Injury With Novel Radiosensitizers. Int J Radiat Oncol Biol Phys. 2021 12 01; 111(5):e54-e62.
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First international workshop of the ATM and cancer risk group (4-5 December 2019). Fam Cancer. 2022 04; 21(2):211-227.
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Ataxia-telangiectasia mutated interacts with Parkin and induces mitophagy independent of kinase activity. Evidence from mantle cell lymphoma. Haematologica. 2021 02 01; 106(2):495-512.
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Retrospective Diagnosis of Ataxia-Telangiectasia in an Adolescent Patient With a Remote History of T-Cell Leukemia. J Pediatr Hematol Oncol. 2021 01; 43(1):e138-e140.