A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

A novel pathogenic deletion in ISPD causes Walker-Warburg syndrome in a Chinese family

Published:2022-08-11 Issue:3 Volume:45 Page:359-365
ISSN:1976-9571
Container-title:Genes & Genomics
language:en
Short-container-title:Genes Genom

Author:

Shi Yuting,Fu Yimei,Tao Zhouteng,Yong Wenjing,Peng Huirong,Jian Wenyang,Chen Gang,Guo Manhui,Zhao Yanhua,Yao Ruojin,Guo Dewei^ORCID

Funder

National Natural Science Foundation of China

Natural Science Foundation of Hunan Province

Scientific Research Project of Hunan Provincial Health Commission

International Scientific Exchange Foundation of China

Hunan Science and Technology Innovation Plan

Xiangya Hospital Clinical Research Project

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://link.springer.com/content/pdf/10.1007/s13258-022-01296-z.pdf

Reference22 articles.

1. Brun BN, Mockler SR, Laubscher KM, Stephan CM, Wallace AM, Collison JA, Zimmerman MB, Dobyns WB, Mathews KD (2017) Comparison of brain MRI findings with language and motor function in the dystroglycanopathies. Neurology 88:623–629

2. Carss KJ, Stevens E, Foley AR, Cirak S, Riemersma M, Torelli S, Hoischen A, Willer T, Van Scherpenzeel M, Moore SA (2013) Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan. Am J Hum Genet 93:29–41

3. Czeschik JC, Hehr U, Hartmann B, Ludecke HJ, Rosenbaum T, Schweiger B, Wieczorek D (2013) 160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome. Eur J Med Genet 56:689–694

4. Gerin I, Ury B, Breloy I, Bouchet-Seraphin C, Bolsee J, Halbout M, Graff J, Vertommen D, Muccioli GG, Seta N et al (2016) ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan. Nat Commun 7:11534

5. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S, Quinlivan R, Feng L et al (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130:2725–2735

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