Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family

Published:2020-05-25 Issue: Volume:11 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Jin Jie-Yuan,Wu Pan-Feng,He Ji-Qiang,Fan Liang-Liang,Yuan Zhuang-Zhuang,Pang Xiao-Yang,Tang Ju-Yu,Zhang Li-Yang

Funder

National Major Science and Technology Projects of China

Fundamental Research Funds for Central Universities of the Central South University

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference25 articles.

1. The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1;Brown;Nat. Genet.,1995

2. Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort;Davidson;J. Neurol.,2012

3. Hereditary sensory autonomic neuropathy caused by a mutation in dystonin;Edvardson;Ann. Neurol.,2012

4. Cellular and molecular biology of neuronal dystonin;Ferrier;Int. Rev. Cell Mol. Biol.,2013

5. Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI;Ferrier;Hum. Mol. Genet.,2014

Cited by 12 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. Hereditary sensory autonomic neuropathy type VI in the age of genetic testing;Annals of the Child Neurology Society;2024-08-11

2. Sensory-motor circuit is a therapeutic target for dystonia musculorum mice, a model of hereditary sensory and autonomic neuropathy 6;Science Advances;2024-07-26

3. Identification of Arrhythmia-Associated Gene Mutations in Chinese Patients with Primary Electrical Disorders or Sudden Cardiac Death;Cardiovascular Innovations and Applications;2024

4. The DST gene in neurobiology;Journal of Neurogenetics;2023-10-02

5. Roles of dystonin isoforms in the maintenance of neural, muscle, and cutaneous tissues;Anatomical Science International;2023-08-21

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