Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.
about
Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disordersNew approaches to treatment of primary immunodeficiencies: fixing mutations with chemicalsSMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsLow ATM protein expression and depletion of p53 correlates with olaparib sensitivity in gastric cancer cell lines.Ataxia telangiectasia: a reviewFunctional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk.Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites.Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case reportA-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityLow levels of ATM in breast cancer patients with clinical radiosensitivity.Mass spectrometry-based tissue imaging of small moleculesA randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes.Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasiaNijmegen breakage syndrome detected by newborn screening for T cell receptor excision circles (TRECs)Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology.Correction of prototypic ATM splicing mutations and aberrant ATM function with antisense morpholino oligonucleotides.Ataxia-Telangiectasia Presenting as Cerebral Palsy and Recurrent Wheezing: A Case Report.Molecular basis of ataxia telangiectasia and related diseases.Variability of immunodeficiency associated with ataxia telangiectasia and clinical evolution in 12 affected patients.p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.Nonaminoglycoside compounds induce readthrough of nonsense mutations.Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).Functional significance of a deep intronic mutation in the ATM gene and evidence for an alternative exon 28a.Ataxia telangiectasia syndrome: moonlighting ATM.Assaying Radiosensitivity of Ataxia-Telangiectasia.
P2860
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P2860
Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression.
description
2003 nî lūn-bûn
@nan
2003 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Improved diagnostic testing fo ...... es for ATM protein expression.
@ast
Improved diagnostic testing fo ...... es for ATM protein expression.
@en
Improved diagnostic testing fo ...... es for ATM protein expression.
@nl
type
label
Improved diagnostic testing fo ...... es for ATM protein expression.
@ast
Improved diagnostic testing fo ...... es for ATM protein expression.
@en
Improved diagnostic testing fo ...... es for ATM protein expression.
@nl
prefLabel
Improved diagnostic testing fo ...... es for ATM protein expression.
@ast
Improved diagnostic testing fo ...... es for ATM protein expression.
@en
Improved diagnostic testing fo ...... es for ATM protein expression.
@nl
P2093
P1476
Improved diagnostic testing fo ...... es for ATM protein expression.
@en
P2093
Chih Hung Lai
Helen H Chun
Richard A Gatti
Shareef A Nahas
Sharon Teraoka
P304
P356
10.1016/J.YMGME.2003.09.008
P577
2003-12-01T00:00:00Z