"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,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2007 | 0 | 1 | 1 |
| 2015 | 1 | 0 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Ataxia Telangiectasia" by people in Profiles.
-
Epstein-barr virus-associated extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue (MALT Lymphoma) arising in the parotid gland of a child with ataxia telangiectasia. J Pediatr Hematol Oncol. 2015 Mar; 37(2):e114-7.
-
Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. Am J Hum Genet. 2007 Jul; 81(1):77-86.
-
Genotyping African haplotypes in ATM using a co-spotted single-base extension assay. Hum Mutat. 2003 Sep; 22(3):214-21.
-
Genetic interactions between ATM and the nonhomologous end-joining factors in genomic stability and development. Proc Natl Acad Sci U S A. 2001 Mar 13; 98(6):3243-8.
-
Prolonged c-jun expression in irradiated ataxia telangiectasia fibroblasts. Int J Radiat Oncol Biol Phys. 1996 Sep 01; 36(2):355-60.
-
Defective induction of stress-activated protein kinase activity in ataxia-telangiectasia cells exposed to ionizing radiation. Cancer Res. 1995 Aug 01; 55(15):3242-5.
-
Skin fibroblasts from patients with the genetic disorder hereditary hemorrhagic telangiectasia compared with ataxia-telangiectasia fibroblasts in their response to the radiomimetic drug neocarzinostatin. Isr J Med Sci. 1989 Feb; 25(2):81-6.
-
Response of human fibroblasts to low dose rate gamma irradiation. Radiat Res. 1984 Nov; 100(2):387-95.
-
Ocular manifestations of the neurocutaneous syndromes. Pediatr Dermatol. 1984 Oct; 2(2):98-117.
-
The role of DNA repair processes in the response of human tumors to fractionated radiotherapy. Int J Radiat Oncol Biol Phys. 1984 Jul; 10(7):1127-34.