Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

Published:2018-07-30 Issue:1 Volume:8 Page:
ISSN:2044-5040
Container-title:Skeletal Muscle
language:en
Short-container-title:Skeletal Muscle

Author:

Johnson Katherine,Bertoli Marta,Phillips Lauren,Töpf Ana,Van den Bergh Peter,Vissing John,Witting Nanna,Nafissi Shahriar,Jamal-Omidi Shirin,Łusakowska Anna,Kostera-Pruszczyk Anna,Potulska-Chromik Anna,Deconinck Nicolas,Wallgren-Pettersson Carina,Strang-Karlsson Sonja,Colomer Jaume,Claeys Kristl G.,De Ridder Willem,Baets Jonathan,von der Hagen Maja,Fernández-Torrón Roberto,Zulaica Ijurco Miren,Espinal Valencia Juan Bautista,Hahn Andreas,Durmus Hacer,Willis Tracey,Xu Liwen,Valkanas Elise,Mullen Thomas E.,Lek Monkol,MacArthur Daniel G.,Straub Volker

Funder

Sanofi Genzyme

Ultragenyx

LGMD2I Research Fund

Samantha J Brazzo Foundation

LGMD2D Foundation

Kurt+Peter Foundation

Muscular Dystrophy UK

Coalition to Cure Calpain 3

National Human Genome Research Institute

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,Orthopedics and Sports Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13395-018-0170-1.pdf

Reference69 articles.

1. Cohn RD, Henry MD, Michele DE, Barresi R, Saito F, Moore SA, Flanagan JD, Skwarchuk MW, Robbins ME, Mendell JR, et al. Disruption of DAG1 in differentiated skeletal muscle reveals a role for dystroglycan in muscle regeneration. Cell. 2002;110:639–48.

2. Ibraghimov-Beskrovnaya O, Ervasti JM, Leveille CJ, Slaughter CA, Sernett SW, Campbell KP. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nat. 1992;355:696–702.

3. Warner LE, DelloRusso C, Crawford RW, Rybakova IN, Patel JR, Ervasti JM, Chamberlain JS. Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin-glycoprotein complex and partially prevents dystrophy. Hum Mol Genet. 2002;11:1095–105.

4. Godfrey C, Foley AR, Clement E, Muntoni F. Dystroglycanopathies: coming into focus. Curr Opin Genet Dev. 2011;21:278–85.

5. Michele DE, Campbell KP. Dystrophin-glycoprotein complex: post-translational processing and dystroglycan function. J Biol Chem. 2003;278:15457–60.

Cited by 41 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. Undetected Neuromuscular Disease in Patients after Heart Transplantation;International Journal of Molecular Sciences;2024-07-17

2. Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14;2024-07-03

3. Validation of a novel western blot assay to monitor patterns and levels of alpha dystroglycan in skeletal muscle of patients with limb girdle muscular dystrophies;Journal of Muscle Research and Cell Motility;2024-04-18

4. Impacts of some clinicopathodemography and colorectal tissues key cell cycle and mucin stabilizing molecules on the metastasis trend in colorectal cancer patients;Molecular Biology Reports;2023-08-29

5. Nucleus Mechanosensing in Cardiomyocytes;International Journal of Molecular Sciences;2023-08-28

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