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...

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

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

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

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

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

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...

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

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

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

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

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

events that initiate with either kinase ATM (Ataxia telangiectasia mutated) or ATR (Ataxia Telangiectasia and Rad3 related), which act as sensors, depending...

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

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

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

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

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...

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

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

treatment. Non-deliberate immunosuppression can occur in, for example, ataxia–telangiectasia, complement deficiencies, many types of cancer, and certain chronic...

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

p53 and a decrease in the level of DNA synthesis. Patients with Ataxia telangiectasia delays have hypersensitivity to radiation due to the delay of accumulation...

Nijmegen breakage syndrome Fanconi anemia Dyskeratosis congenita Ataxia telangiectasia De Barsy syndrome PIBI(D)S syndrome BIDS syndrome...

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

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

causing neurodegenerative symptoms in the nervous system disorder, ataxia telangiectasia. EZH2 is the catalytic subunit of the Polycomb Repressive Complex...