A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

Published:2011-02-17 Issue:10 Volume:20 Page:1886-1892
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Yıldırım Yeşerin,Kocasoy Orhan Elif,Ugur Iseri Sibel Aylin,Serdaroglu-Oflazer Piraye,Kara Bülent,Solakoğlu Seyhun,Tolun Aslıhan

Publisher

Oxford University Press (OUP)

Subject

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

Link

http://academic.oup.com/hmg/article-pdf/20/10/1886/17251452/ddr070.pdf

Reference21 articles.

1. Complex aetiology of an apparently Mendelian form of mental retardation;Beleza-Meireles;BMC Med. Genet.,2008

2. XLMR genes: update 2007;Chiurazzi;Eur. J. Hum. Genet.,2008

3. Genetics of autosomal recessive non-syndromic mental retardation: recent advances;Basel-Vanagaite;Clin. Genet.,2007

4. Arthrogryposis: a review and update;Bamshad;J. Bone. Joint Surg. Am.,2009

5. Management of the stiff hand;Curtis,1989

Cited by 55 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. ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway;2024-01-18

2. Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18;Neurological Sciences;2023-12-30

3. KCNN1 promotes proliferation and metastasis of breast cancer via ERLIN2-mediated stabilization and K63-dependent ubiquitination of Cyclin B1;Carcinogenesis;2023-10-13

4. A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family;Annals of Clinical and Translational Neurology;2023-09-27

5. A case report of concurrent occurrence of two inherited axonopathies within a family: the benefit of whole-exome sequencing;International Journal of Neuroscience;2023-09-15

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