Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy

Published:2017-11-22 Issue:2 Volume:63 Page:249-254
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Harada Haruhito,Hayashi Takeharu,Nishi Hirofumi,Kusaba Ken,Koga Yoshinori,Koga Yasutoshi,Nonaka Ikuya,Kimura Akinori

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s10038-017-0383-x.pdf

Reference22 articles.

1. Kimura A. Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond. J Hum Genet. 2010;55:81–90.

2. Maron BJ, Maron MS, Semsarian C. Genetics of hypertrophic cardiomyopathy after 20 years. J Am Coll Cardiol. 2012;60:705–15.

3. Kimura A. Molecular genetics and pathogenesis of cardiomyopathy. J Hum Genet. 2016;61:40–51.

4. Clemen CS, Herrmann H, Strelkov SV, Schroder R. Desminopathies: pathology and mechanisms. Acta Neuropathol. 2013;125:47–75.

5. Capetanaki Y, Papathanasiou S, Diokmetzidou A, Vatsellas G, Tsikitis M. Desmin related disease: a matter of cell survival failure. Curr Opin Cell Biol. 2015;32:113–20.

Cited by 26 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. Evaluation of the Role of Endomyocardial Biopsy in Rare Myocardial Disorders: Six Case Reports and Narratives;Annals of Internal Medicine: Clinical Cases;2024-09-01

2. Partial loss of desmin expression due to a leaky splice site variant in the human DES gene is associated with neuromuscular transmission defects;Neuromuscular Disorders;2024-06

3. Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C‐Terminus of segment 2B;Journal of Cellular Physiology;2024-03-19

4. Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, through a Study of an Iranian Family with Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype‒Genotype Correlation Analysis;2024-01-08

5. Hypertrophic Cardiomyopathy in Children;Pediatric Cardiology;2024

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