ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis

Published:2016-03-07 Issue:1 Volume:132 Page:111-126
ISSN:0001-6322
Container-title:Acta Neuropathologica
language:en
Short-container-title:Acta Neuropathol

Author:

Nagata Kenichi,Kiryu-Seo Sumiko,Tamada Hiromi,Okuyama-Uchimura Fumi,Kiyama Hiroshi,Saido Takaomi C.

Funder

RIKEN

Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology (clinical),Pathology and Forensic Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00401-016-1554-0.pdf

Reference34 articles.

1. Bamshad M, Jorde LB, Carey JC (1996) A revised and extended classification of the distal arthrogryposes. Am J Med Genet 65:277–281

2. Bamshad M, Van Heest AE, Pleasure D (2009) Arthrogryposis: a review and update. J Bone Joint Surg Am 91(Suppl 4):40–46

3. Barnett CP, Todd EJ, Ong R, Davis MR, Atkinson V, Allcock R, Laing N, Ravenscroft G (2014) Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1. Am J Med Genet A 164:1846–1849

4. Beals RK, Weleber RG (2004) Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia. Am J Med Genet A 131:67–70

5. Benoit A, Vargas MA, Desgroseillers L, Boileau G (2004) Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum. Biochem J 380:881–888. doi: 10.1042/bj20040215

Cited by 17 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

1. A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder;Pakistan Journal of Zoology;2022

2. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy;Human Genetics;2021-10-15

3. Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders;Annual Review of Vision Science;2021-09-15

4. A genome-wide association analysis for body, udder, and leg conformation traits recorded in Murciano-Granadina goats;Journal of Dairy Science;2020-12

5. The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D;BioMed Research International;2020-05-27

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