Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing...
80 KB (10,530 words) - 11:14, 15 July 2024
enchondromas and hemangiomas) Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome, a nevus formation in...
16 KB (1,833 words) - 21:23, 12 August 2024
disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia...
37 KB (2,980 words) - 01:44, 17 September 2024
ATM serine/threonine kinase (redirect from Ataxia telangiectasia mutated)
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA...
50 KB (5,684 words) - 10:12, 7 September 2024
Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1), is an enzyme...
28 KB (3,429 words) - 18:15, 9 September 2024
and a deficiency in the immune system. Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal...
14 KB (1,509 words) - 16:18, 11 February 2024
Niemann–Pick disease, ataxia–telangiectasia (sensory and cerebellar, with the latter predominating), autosomal recessive spinocerebellar ataxia-14 and abetalipoproteinaemia...
55 KB (5,946 words) - 22:12, 9 September 2024
DNA ligase (section Ataxia-telangiectasia)
problems involving the nervous system. Mutations in the ATM gene cause ataxia–telangiectasia. The ATM gene provides instructions for making a protein that helps...
23 KB (2,787 words) - 00:53, 18 June 2024
Ataxia-telangiectasia group D complementing (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse model of pancreatic cancer...
3 KB (308 words) - 02:00, 13 August 2023
Nijmegen breakage syndrome (redirect from Ataxia telangiectasia variant V1)
NBS1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1, as the...
10 KB (1,004 words) - 18:23, 25 March 2024