Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy-Reference-Cited by-同舟云学术

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Recessive TAF1A mutations reveal ribosomopathy in siblings with end-stage pediatric dilated cardiomyopathy

Published:2017-05-02 Issue:15 Volume:26 Page:2874-2881
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Long Pamela A.¹²,Theis Jeanne L.²,Shih Yu-Huan³,Maleszewski Joseph J.⁴⁵,Abell Aleff Patrice C.³,Evans Jared M.⁶,Xu Xiaolei³⁴,Olson Timothy M.²⁴⁷

Affiliation:

1. Mayo Graduate School of Biomedical Sciences, Molecular Pharmacology and Experimental Therapeutics Track

2. Cardiovascular Genetics Research Laboratory

3. Department of Biochemistry and Molecular Biology

4. Department of Cardiovascular Medicine

5. Department of Laboratory Medicine and Pathology

6. Division of Biomedical Statistics and Informatics, Department of Health Sciences Research

7. Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA

Funder

American Heart Association

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/26/15/2874/25420634/ddx169.pdf

Reference36 articles.

1. The frequency of familial dilated cardiomyopathy in a series of patients with idiopathic dilated cardiomyopathy;Michels;N. Engl. J. Med,1992

2. The registry of the international society for heart and lung transplantation: thirtieth official adult heart transplant report—2013; focus theme: age;Lund;J. Heart Lung Transplant,2013

3. The registry of the international society for heart and lung transplantation: sixteenth official pediatric heart transplantation report–2013; focus theme: age;Dipchand;J. Heart Lung Transplant,2013

4. Incidence, causes, and outcomes of dilated cardiomyopathy in children;Towbin;JAMA,2006

5. Dilated cardiomyopathy: the complexity of a diverse genetic architecture;Hershberger;Nat. Rev. Cardiol,2013

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1. Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy;European Journal of Medical Genetics;2024-10

2. Gene‐based association tests in family samples using GWAS summary statistics;Genetic Epidemiology;2024-02-05

3. HMG-boxes, ribosomopathies and neurodegenerative disease;Frontiers in Genetics;2023-08-03

4. Juvenile-onset multifocal atrial arrhythmias, atrial standstill and compound heterozygosity of genetic variants in TAF1A: sentinel event for evolving dilated cardiomyopathy—a case report;European Heart Journal - Case Reports;2023-06

5. Genomic and RNA-Seq profiling of patients with HFrEF unraveled OAS1 mutation and aggressive expression;International Journal of Cardiology;2023-03

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