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- Ataxia-telangiectasia (AT; OMIM#208900) is a rare genetic disease caused by mutations in the AT-mutated (ATM) gene encoding PI3kinase, which controls the cell cycle and DNA repair. 1 Patients with classic AT present with early-onset progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, late-onset peripheral neuropathy, and higher incidence of infections and tumors.
www.neurology.org/doi/10.1212/NXG.0000000000000228 - People also ask
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See all on WikipediaATM serine/threonine kinase - Wikipedia
People who carry a heterozygous ATM mutation have increased risk of mainly pancreatic cancer, prostate cancer, stomach cancer and invasive ductal carcinoma of the breast. Homozygous ATM mutation confers the disease ataxia–telangiectasia (AT), a rare human disease characterized by cerebellar … See more
ATM serine/threonine kinase or Ataxia-telangiectasia mutated, symbol ATM, is a serine/threonine protein kinase that is recruited and … See more
The ATM gene codes for a 350 kDa protein consisting of 3056 amino acids. ATM belongs to the superfamily of See more
A functional MRN complex is required for ATM activation after DSBs. The complex functions upstream of ATM in mammalian cells and induces … See more
ATM is one of the DNA repair genes frequently hypermethylated in its promoter region in various cancers (see table of such genes in See more
Throughout the cell cycle DNA is monitored for damage. Damages result from errors during replication, by-products of metabolism, general toxic drugs or ionizing radiation. … See more
Mutations in the ATM gene are found at relatively low frequencies in sporadic cancers. According to COSMIC, the Catalogue Of Somatic Mutations In Cancer, the … See more
Wikipedia text under CC-BY-SA license Ataxia–telangiectasia - Wikipedia
WEBA–T is caused by mutations in the ATM (ATM serine/threonine kinase or ataxia–telangiectasia mutated) gene, which was cloned in 1995. [3] ATM is located on …
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Ataxia-Telangiectasia - StatPearls - NCBI Bookshelf
WEBAtaxia-telangiectasia (A-T) is a rare inherited form of autosomal recessive neurodegenerative ataxia with onset in early childhood. Clinically, this …
- Published: 2024/03/06
Ataxia telangiectasia and Rad3 related - Wikipedia
WEBMutations in ATR are responsible for Seckel syndrome, a rare human disorder that shares some characteristics with ataxia telangiectasia, which results from ATM mutation.
Ataxia telangiectasia: a review - National Center for …
WEBA-T is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is …
Ataxia-telangiectasia: Symptoms, Causes and Outlook
WEBAtaxia-telangiectasia (A-T), also known as Louis-Bar Syndrome, is a rare genetic condition that targets the nervous system, immune system and other systems …
The ATM protein kinase: regulating the cellular response to
WEBThe protein kinase ataxia-telangiectasia mutated (ATM) is best known for its role as an apical activator of the DNA damage response in the face of DNA double-strand breaks …
Cellular functions of the protein kinase ATM and their ... - PubMed
WEBThe protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-strand DNA break (DSB) signalling and stress responses.
Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf
WEBResidual ataxia telangiectasia mutated protein function in cells from ataxia telangiectasia patients, with 5762ins137 and 7271T→ G mutations, showing a less severe phenotype.
Ataxia-telangiectasia | Neurology Genetics
WEBAtaxia-telangiectasia (AT; OMIM#208900) is a rare genetic disease caused by mutations in the AT-mutated ( ATM) gene encoding PI3kinase, which controls the cell cycle and …
Ataxia-telangiectasia: MedlinePlus Genetics
WEBAtaxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. This disorder is characterized by progressive difficulty …
Ataxia-telangiectasia: Video, Anatomy & Definition | Osmosis
WEBPreview. An 8-year-old girl is brought to her primary care physician's office for evaluation of unsteady gait. The parent states the patient’s gait has become “wobbly,” and she has …
Ataxia Telangiectasia Mutated - an overview - ScienceDirect
WEBAtaxia telangiectasia mutated (ATM) is a kinase that acts upstream of p53 and controls a DDR pathway critical to resolving double-stranded DNA breaks (DSBs). ATM has …
Ataxia telangiectasia: what the neurologist needs to know
WEBAtaxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency …
Ataxia Telangiectasia - National Institute of Neurological …
WEBAT is caused by mutations in the ATM (ataxia-telangiectasis mutated) gene. Some children with AT develop cancer, most frequently acute lymphocytic leukemia or lymphoma.
Ataxia Telangiectasia - Symptoms, Causes, Treatment | NORD
WEBAT is caused by changes (mutations) in the ataxia telangiectasia mutated ( ATM) gene and is inherited in an autosomal recessive pattern. The name ataxia telangiectasia …
Ataxia-Telangiectasia - Children's Hospital of Philadelphia
WEBAtaxia-telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems. It is characterized by the presence of: …
The natural history of ataxia-telangiectasia (A-T): A systematic …
WEBAtaxia-telangiectasia (A-T) is an autosomal recessive, multi-system, progressive and life-shortening disease due to mutations in the ataxia-telangiectasia mutated (ATM) gene …
Ataxia-Telangiectasia: Symptoms, Treatment, and Prognosis
WEBAtaxia-telangiectasia (A-T) is a rare genetic disorder affecting around one in 40,000 to one in 100,000 Americans. It's caused by genetic mutations that are passed down from …
ATM Gene - GeneCards | ATM Protein | ATM Antibody
WEBAtaxia-telangiectasia (A-T) is a recessive disorder resulting from germline mutation of the A-T mutated (ATM) gene on chromosome 11q. Upon sensing double-stranded breaks …
Ataxia-telangiectasia | About the Disease | GARD
WEBAtaxia telangiectasia (A-T) is rare condition that affects the nervous system, the immune system, and many other parts of the body.
Ataxia telangiectasia: a review - BioMed Central
WEBAtaxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and …
Discovery of novel ataxia telangiectasia mutated (ATM) kinase
WEBAtaxia-telangiectasia mutated (ATM) kinase is a serine/threonine protein kinase and plays a key role in DNA double-strand breaks repair. Thus, ATM is considered a promising …
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