Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
about
Newborn screening for SCID identifies patients with ataxia telangiectasiaSMRT compounds correct nonsense mutations in primary immunodeficiency and other genetic modelsNonsense-mediated mRNA decay in humans at a glanceAnalysis of Complement C3 Gene Reveals Susceptibility to Severe PreeclampsiaA-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicityNext-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation.Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.Nonsense-mediated decay in genetic disease: friend or foe?SMRT compounds abrogate cellular phenotypes of ataxia telangiectasia in neural derivatives of patient-specific hiPSCs.Ten new ATM alterations in Polish patients with ataxia-telangiectasia.Targeting RNA splicing for disease therapy.Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.Role of pseudoexons and pseudointrons in human cancer.Exon-skipping antisense oligonucleotides to correct missplicing in neurogenetic diseases.Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO).Monogenic mutations associated with IgA deficiency.Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.Ataxia-telangiectasia with a novel ATM gene mutation and Burkitt leukemia: A case reportTherapeutic targets and investigated treatments for Ataxia-Telangiectasia
P2860
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P2860
Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Functional characterization an ...... ts with ataxia-telangiectasia.
@ast
Functional characterization an ...... ts with ataxia-telangiectasia.
@en
type
label
Functional characterization an ...... ts with ataxia-telangiectasia.
@ast
Functional characterization an ...... ts with ataxia-telangiectasia.
@en
prefLabel
Functional characterization an ...... ts with ataxia-telangiectasia.
@ast
Functional characterization an ...... ts with ataxia-telangiectasia.
@en
P2093
P2860
P356
P1433
P1476
Functional characterization an ...... nts with ataxia-telangiectasia
@en
P2093
Francesca Fike
Kotoka Nakamura
Rashmi Tunuguntla
Richard A Gatti
Shuki Mizutani
Simona Cavalieri
P2860
P304
P356
10.1002/HUMU.21632
P577
2011-11-09T00:00:00Z