 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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| 1994 | 1 | 0 | 1 | | 1995 | 1 | 0 | 1 | | 1996 | 0 | 1 | 1 | | 1997 | 1 | 0 | 1 | | 1999 | 1 | 1 | 2 | | 2000 | 0 | 2 | 2 | | 2001 | 1 | 1 | 2 | | 2002 | 1 | 0 | 1 | | 2004 | 3 | 0 | 3 | | 2005 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2007 | 1 | 0 | 1 | | 2009 | 1 | 1 | 2 | | 2010 | 1 | 0 | 1 | | 2011 | 3 | 0 | 3 | | 2012 | 3 | 0 | 3 | | 2015 | 1 | 0 | 1 | | 2017 | 0 | 1 | 1 | | 2018 | 1 | 1 | 2 | | 2019 | 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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Bergom C, West CM, Higginson DS, Abazeed ME, Arun B, Bentzen SM, Bernstein JL, Evans JD, Gerber NK, Kerns SL, Keen J, Litton JK, Reiner AS, Riaz N, Rosenstein BS, Sawakuchi GO, Shaitelman SF, Powell SN, Woodward WA. The Implications of Genetic Testing on Radiation Therapy Decisions: A Guide for Radiation Oncologists. Int J Radiat Oncol Biol Phys. 2019 11 15; 105(4):698-712.
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McGrath-Morrow SA, Ndeh R, Collaco JM, Rothblum-Oviatt C, Wright J, O'Reilly MA, Singer BD, Lederman HM. Inflammation and transcriptional responses of peripheral blood mononuclear cells in classic ataxia telangiectasia. PLoS One. 2018; 13(12):e0209496.
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DaVee T, Coronel E, Papafragkakis C, Thaiudom S, Lanke G, Chakinala RC, Nogueras González GM, Bhutani MS, Ross WA, Weston BR, Lee JH. Pancreatic cancer screening in high-risk individuals with germline genetic mutations. Gastrointest Endosc. 2018 Jun; 87(6):1443-1450.
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Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA. Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
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Teive HA, Moro A, Moscovich M, Arruda WO, Munhoz RP, Raskin S, Ashizawa T. Ataxia-telangiectasia - A historical review and a proposal for a new designation: ATM syndrome. J Neurol Sci. 2015 Aug 15; 355(1-2):3-6.
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Limbo O, Moiani D, Kertokalio A, Wyman C, Tainer JA, Russell P. Mre11 ATLD17/18 mutation retains Tel1/ATM activity but blocks DNA double-strand break repair. Nucleic Acids Res. 2012 Dec; 40(22):11435-49.
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Kim J, Wong PK. Targeting p38 mitogen-activated protein kinase signaling restores subventricular zone neural stem cells and corrects neuromotor deficits in Atm knockout mouse. Stem Cells Transl Med. 2012 Jul; 1(7):548-56.
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Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB. The critically ill patient with ataxia-telangiectasia: a case series. Pediatr Crit Care Med. 2012 Mar; 13(2):e84-90.
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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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Lockman JL, Iskander AJ, Bembea M, Crawford TO, Lederman HM, McGrath-Morrow S, Easley RB. Anesthetic and perioperative risk in the patient with Ataxia-Telangiectasia. Paediatr Anaesth. 2012 Mar; 22(3):256-62.
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