ataxia-telangiectasia mutation

同

ATM

WordNet

1. (genetics) any event that changes genetic structure; any alteration in the inherited nucleic acid sequence of the genotype of an organism (同)genetic mutation, chromosomal_mutation
2. a change or alteration in form or qualities
3. inability to coordinate voluntary muscle movements; unsteady movements and staggering gait (同)ataxy, dyssynergia, motor_ataxia

PrepTutorEJDIC

1. 変化,俸転 / (生物の)突然変異;その変種

UpToDate Contents

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• 1. 毛細血管拡張性運動失調症 ataxia telangiectasia
• 2. 原発性免疫不全症に対する遺伝子治療 gene therapy for primary immunodeficiency
• 3. Familial risk factors for pancreatic cancer and screening of high-risk patients
• 4. 舞踏病の概要 overview of chorea
• 5. 家族性急性白血病および骨髄異形成症候群 familial acute leukemia and myelodysplastic syndromes

English Journal

• Pharmacokinetics, pharmacodynamics and efficacy on pediatric tumors of the glioma radiosensitizer KU60019.

• Vecchio D1, Daga A, Carra E, Marubbi D, Raso A, Mascelli S, Nozza P, Garrè ML, Pitto F, Ravetti JL, Vagge S, Corvò R, Profumo A, Baio G, Marcello D, Frosina G.
• International journal of cancer. Journal international du cancer.Int J Cancer.2015 Mar 15;136(6):1445-57. doi: 10.1002/ijc.29121. Epub 2014 Aug 11.
• We have recently reported that glioblastoma (GB)-initiating cells (GIC) with low expression and/or mutation of TP53 and high expression of PI3K ("responder" genetic profile) can be effectively and safely radiosensitized by the ATM inhibitor KU60019. We report here on drug's diffusion and elimination
• PMID 25091220

• Ataxia telangiectasia: more variation at clinical and cellular levels.

• Taylor AM1, Lam Z, Last JI, Byrd PJ.
• Clinical genetics.Clin Genet.2015 Mar;87(3):199-208. doi: 10.1111/cge.12453. Epub 2014 Sep 8.
• Ataxia telangiectasia (A-T) is a rare recessively inherited disorder resulting in a progressive neurological decline. It is caused by biallelic mutation of the ATM gene that encodes a 370 kDa serine/threonine protein kinase responsible for phosphorylating many target proteins. ATM is activated by au
• PMID 25040471

• Agrobacterium T-DNA integration into the plant genome can occur without the activity of key non-homologous end-joining proteins.

• Park SY1, Vaghchhipawala Z, Vasudevan B, Lee LY, Shen Y, Singer K, Waterworth WM, Zhang ZJ, West CE, Mysore KS, Gelvin SB.
• The Plant journal : for cell and molecular biology.Plant J.2015 Mar;81(6):934-46. doi: 10.1111/tpj.12779. Epub 2015 Feb 21.
• Non-homologous end joining (NHEJ) is the major model proposed for Agrobacterium T-DNA integration into the plant genome. In animal cells, several proteins, including KU70, KU80, ARTEMIS, DNA-PKcs, DNA ligase IV (LIG4), Ataxia telangiectasia mutated (ATM), and ATM- and Rad3-related (ATR), play an imp
• PMID 25641249

Japanese Journal

• Increased oxidative stress in AOA3 cells disturbs ATM-dependent DNA damage responses.

• Mutation
• NAID 120005670865

• Hypergonadotropic hypogonadism and hypersegmented neutrophils in a patient with ataxia-telangiectasia-like disorder: Potential diagnostic clues?

• American journal of medical genetics. Part A 164(7), 1830-1834, 2014-07
• NAID 120005456013

• Defects in the ATR-Dependent DNA Damage Response Pathway and Human Syndromes

• Acta medica Nagasakiensia 53(Supplement <Perspective of Radiation Research>), S23-S30, 2009-03
• NAID 110007050120

Related Links

• Ataxia-Telangiectasia - GeneReviews® - NCBI Bookshelf

Molecular Genetic Testing Gene. ATM is the only gene known to be associated with ataxia-telangiectasia. Greater than 99% of individuals with classic A-T have mutations in ATM. Clinical testing Sequence analysis. Sequence ...

• Ataxia-Telangiectasia | Cancer.Net

What is ataxia-telangiectasia? Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. Signs of A ...

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★リンクテーブル★

リンク元	「ATM」
関連記事	「ataxia telangiectasia」

「ATM」

　　[★]

• 血管拡張性失調症変異 ataxia telangiectasia mutated ataxia-telangiectasia mutation
• ATM療法
• asynchronous Transfer Mode switching system

「ataxia telangiectasia」

　　[★] 毛細血管拡張性運動失調症