Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem disease

Author:

Williams Katie B1,Brigatti Karlla W1,Puffenberger Erik G1,Gonzaga-Jauregui Claudia2,Griffin Laurie B34,Martinez Erick D5,Wenger Olivia K67,Yoder Mark A8,Kandula Vinay V R9,Fox Michael D1011,Demczko Matthew M1011,Poskitt Laura1011,Furuya Katryn N111213,Reid Jeffrey G2,Overton John D2,Baras Aris2,Miles Lili14,Radhakrishnan Kadakkal1516,Carson Vincent J1,Antonellis Anthony3417,Jinks Robert N5,Strauss Kevin A1

Affiliation:

1. Clinic for Special Children, Strasburg, PA, USA

2. Regeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY, USA

3. Program in Cellular and Molecular Biology, University of Michigan, Ann Arbor, MI, USA

4. Medical Scientist Training Program, University of Michigan, Ann Arbor, MI, USA

5. Department of Biology, Biological Foundations of Behavior Program, Franklin & Marshall College, Lancaster, PA, USA

6. New Leaf Center, Mount Eaton, OH, USA

7. Department of Pediatrics, Akron Children’s Hospital, Akron, OH, USA

8. Northeast Ohio Medical University, Rootstown, OH, USA

9. Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

10. Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

11. Department of Pediatrics, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA

12. Division of Pediatric Gastroenterology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA

13. Division of Pediatric Gastroenterology, Department of Pediatrics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

14. Department of Pathology and Laboratory Medicine, Nemours Children's Hospital, Orlando FL, USA

15. Department of Gastroenterology, Children's Hospital at Cleveland Clinic, Cleveland, OH USA

16. Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, OH, USA

17. Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA

Funder

National Institute of General Medical Sciences

Howard Hughes Medical Institute

Center for Research on Women and Newborn Health and ConnectCare3

Pennsylvania State University

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

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

Reference60 articles.

1. Aminoacyl-tRNA synthetases;Delarue;Curr. Opin. Struct. Biol.,1995

2. Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations;Oprescu;Methods,2017

3. The role of aminoacyl-tRNA synthetases in genetic diseases;Antonellis;Annu. Rev. Genomics Hum. Genet.,2008

4. Sensing and transmitting intracellular amino acid signals through reversible lysine aminoacylations;He;Cell Metab.,2018

5. Aminoacyl-tRNA synthetases in medicine and disease;Yao;EMBO Mol. Med.,2013

Cited by 21 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3