Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia-Reference-Cited by-同舟云学术

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Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia

Published:2011-11-09 Issue:1 Volume:33 Page:198-208
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Nakamura Kotoka,Du Liutao,Tunuguntla Rashmi,Fike Francesca,Cavalieri Simona,Morio Tomohiro,Mizutani Shuki,Brusco Alfredo,Gatti Richard A.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference57 articles.

1. Progress in understanding the biology of the human mutagen LINE-1;Babushok;Hum Mutat,2007

2. DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociation;Bakkenist;Nature,2003

3. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia;Birrell;Hum Mutat,2005

4. Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection;Boder;Pediatrics,1958

5. Recent advances in cancer therapy targeting proteins involved in DNA double-strand break repair;Bolderson;Clin Cancer Res,2009

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1. An overview of early genetic predictors of IgA deficiency;Expert Review of Molecular Diagnostics;2024-08

2. Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia;Frontiers in Neurology;2024-05-31

3. Ataxia-telangiectasia clinical trial landscape and the obstacles to overcome;Expert Opinion on Investigational Drugs;2023-08-03

4. Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis;Expert Review of Molecular Diagnostics;2022-03-04

5. Case Report: Biallelic Loss of Function ATM due to Pathogenic Synonymous and Novel Deep Intronic Variant c.1803-270T > G Identified by Genome Sequencing in a Child With Ataxia–Telangiectasia;Frontiers in Genetics;2022-01-25

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