检索结果-南通市图书馆

Genes & Diseases 2022年第6期9卷 1506-1520页

作者： Jon Christiansen anne-katrin guttsches Ulrike Schara-Schmidt Matthias Vorgerd Christoph Heute Corinna Preusse Werner Stenzel Andreas Roos Department of Pediatric Neurology Centre for Neuromuscular DisordersCentre for Translational Neuro-and Behavioral SciencesUniversity Hospital EssenUniversity Duisburg-Essen45147 EssenGermany Department of Neurology Heimer Institute for Muscle ResearchUniversity Hospital BergmannsheilRuhr University Bochum44789 BochumGermany Department of Adult and Pediatric Diagnostic Interventional RadiologyNuclear MedicineBG University Hospital Bergmannsheil Bochum44789 BochumGermany Charite´e Universitatsmedizin Berlin Freie Universitat Berlin10117 BerlinGermany Humboldt-Universitat zu Berlin Department of Neuropathology10117 BerlinGermany Department of Neurology with Institute for Translational Neurology University Hospital MunsterAlbert-Schweitzer-Campus 148149 MunsterGermany Children’s Hospital of Eastern Ontario Research Institute University of OttawaOttawaON K1H 8L1Canada

Anoctamin-5(ANO5)is a multi-pass membrane protein localized to the sarcolemma and the sarcoplasmic *** were linked to rare autosomal recessive muscle ***,we summarize the clinical spectrum,imaging data and molecular research findings as well as results of animal modeling,which significantly moved forward the understanding of mechanisms underlying ANO5-related muscle *** that precise histological information on inflammatory processes taking place in patient-derived muscle are still lacking,an(immuno)histological study on biopsies derived from six ANO5-patients was performed showing focal accumulation of necrotic fibers,mild fiber-size variances and *** addition,MRI data of four ANO5-patients(including a 10-year follow-up in one patient)are presented and discussed in the context of previously published ***,data presented in this article combining a review of the literature with own myopathological findings address scientific trends and open questions on ANO5-related muscle diseases,which would be of significant interest for a wide neuromuscular diseases *** conclude,a clear genotypeephenotype correlation does not exist,and ANO5-related muscle disorders might represent the next entity of a clinical continuum with varying degree of muscle cell *** addition,results of pre-clinical studies allowed the definition of suitable cell and animal models characterized by certain histological and functional pathologies resembling the human *** models might serve as suitable systems for testing of interventional concepts in future.

关键词： Anoctamin-5 LGMDR12 MMD3 Muscle inflammation Muscle MRI

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：