A‐ T W innipeg : Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity-Reference-Cited by-同舟云学术

A‐ T W innipeg : Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early‐onset dystonia, cancer, and life‐threatening radiotoxicity

Published:2014-03-13 Issue:4 Volume:2 Page:332-340
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Nakamura Kotoka¹,Fike Francesca¹,Haghayegh Sara¹,Saunders‐Pullman Rachel²,Dawson Angelika J.³,Dörk Thilo⁴,Gatti Richard A.¹⁵⁶

Affiliation:

1. Department of Pathology and Laboratory Medicine UCLA School of Medicine Los Angeles California

2. Department of Neurology Albert Einstein College of Medicine Bronx New York

3. Cytogenetics Laboratory Division of Laboratory Medicine & Pathology Departments of Biochemistry & Medical Genetics and Pediatrics & Child Health Diagnostic Services of Manitoba University of Manitoba Winnipeg Manitoba Canada

4. Gynaecology Research Unit Hannover Medical School Hannover Germany

5. Department of Human Genetics UCLA School of Medicine Los Angeles California

6. Molecular Biology Institute UCLA Los Angeles California

Funder

U.S.P.H.S. National Institutes of Health

A-T Ease Foundation

A-T Medical Research Foundation

APRAT

A-T Society

NIH

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.72

Reference33 articles.

1. A method and server for predicting damaging missense mutations

2. Phenotypic cellular characterization of an Ataxia telangiectasia patient carrying a causal homozygous missense mutation

3. Modeling ATM mutant proteins from missense changes confirms retained kinase activity

4. ATM mutations, haplotype analysis, and immunological status of Russian patients with ataxia telangiectasia

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

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