Ataxia–telangiectasia (AT or A–T), also referred to as ataxia–telangiectasia syndrome or Louis–Bar syndrome, is a rare, neurodegenerative disease causing...

enchondromas and hemangiomas) Hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome) Ataxia–telangiectasia Sturge–Weber syndrome, a nevus formation in...

disorders in which ataxia is a prominent feature: Friedreich ataxia, ataxia-telangiectasia, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia...

ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and activated by DNA...

Serine/threonine-protein kinase ATR, also known as ataxia telangiectasia and Rad3-related protein (ATR) or FRAP-related protein 1 (FRP1), is an enzyme...

and a deficiency in the immune system. Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal...

Niemann–Pick disease, ataxia–telangiectasia (sensory and cerebellar, with the latter predominating), autosomal recessive spinocerebellar ataxia-14 and abetalipoproteinaemia...

problems involving the nervous system. Mutations in the ATM gene cause ataxia–telangiectasia. The ATM gene provides instructions for making a protein that helps...

Ataxia-telangiectasia group D complementing (ATDC) is a gene implicated in ataxia-telangiectasia. It is involved in a mouse model of pancreatic cancer...

NBS1 gene. Unsurprisingly, many of the features are similar to ataxia telangiectasia (AT) and this syndrome was sometimes termed AT-variant 1, as the...

cerebellar ataxia due to MGLUR1 deficiency Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency Ataxia-telangiectasia Ataxia-oculomotor...

syndrome Asperger syndrome Asymmetric crying facies Ataxia-pancytopenia syndrome Ataxia-telangiectasia Athletic heart syndrome Athymhormic syndrome ATR-16...

following chromosome instability syndromes are known: Ataxia telangiectasia Ataxia telangiectasia-like disorder Bloom syndrome Fanconi anaemia Nijmegen...

betamethasone was shown to reduce some of the ataxia (poor coordination) symptoms associated with ataxia telangiectasia (A-T) by 28-31%. Betamethasone is also...

Autophosphorylation is a type of post-translational modification of proteins. It is generally defined as the phosphorylation of the kinase by itself. In...

(an X-linked recessive disorder), and ataxia–telangiectasia.[citation needed] Even though ataxia telangiectasia is an autosomal recessive disorder, people...

type C, GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases), and ataxia–telangiectasia. In 2020, IntraBio announced the successful multinational clinical...

a psychological method Antithrombin, a small protein molecule Ataxia–telangiectasia, an immunodeficiency disorder Athletic training Atrial tachycardia...

sequences on exon 7. Mutations in the ATM gene are responsible for ataxia telangiectasia. These mutations are generally single base pair substitutions, deletions...

SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal...

1101/gad.851000. PMC 317107. PMID 11114888. Chen J (September 2000). "Ataxia telangiectasia-related protein is involved in the phosphorylation of BRCA1 following...

severe combined immunodeficiency, common variable immunodeficiency, ataxia–telangiectasia, Wiskott–Aldrich syndrome, immunodeficiency with short-limbed dwarfism...

experimental anticancer drug developed by AstraZeneca that inhibits ataxia telangiectasia mutated (ATM). Dexheimer, Thomas S.; Coussens, Nathan P.; Silvers...

tumors Yolk sac tumor Other conditions associated with elevated AFP Ataxia telangiectasia: elevated AFP is used as one factor in diagnosis A peptide derived...

cancer. It is a selective oral small molecule inhibitor of ATR (Ataxia telangiectasia and Rad3 related), developed by Repare Therapeutics. This drug targets...

Shwachman–Diamond syndrome, Kostmann syndrome, neurofibromatosis type 1, ataxia-telangiectasia, paroxysmal nocturnal hemoglobinuria, and Li–Fraumeni syndrome....

diseases, like Klinefelter syndrome, Chédiak–Higashi syndrome, ataxia–telangiectasia syndrome.[citation needed] Autoimmune diseases, like Sjögren syndrome...

Astrovirus infection Asymmetric septal hypertrophy Ataxia Ataxia, Marie's Ataxia telangiectasia Ataxia telangiectasia variant V1 Atelectasis Atelosteogenesis type...

needed] Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. TOP2A has been shown to interact with SMURF2, HDAC1, CDC5L, Small...

also frequently affected: hyperpigmentation, varicose or spider veins (telangiectasia), and serious sensitivity to sunlight are common, even in individuals...