Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Desmoplakin Gene Variants and Risk for Arrhythmogenic Cardiomyopathy

Published:2018-09 Issue:9 Volume:11 Page:
ISSN:2574-8300
Container-title:Circulation: Genomic and Precision Medicine
language:en
Short-container-title:Circ Genom Precis Med.

Author:

Favre Bertrand¹²,Begré Nadja¹²,Marsili Luisa³⁴,van Tintelen J. Peter³,Borradori Luca¹

Affiliation:

1. Department of Dermatology, Inselspital, Bern University Hospital (B.F., N.B., L.B.).

2. Department for BioMedical Research (DBMR), University of Bern, Switzerland (B.F., N.B.).

3. Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, The Netherlands (L.M., J.P.v.T.).

4. Department of Clinical Genetics, Lille University Hospital, CHU Lille, France (L.M.).

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

General Medicine

Reference5 articles.

1. Inherited desmosomal disorders

2. Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy

3. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

4. Favre B et al. A recessive mutation in the DSP gene linked to cardiomyopathy skin fragility and hair defects impairs the binding of desmoplakin to epidermal keratins and the muscle-specific intermediate filament desmin [published online June 7 2018 ]. Br J Dermatol. doi: 10.1111/bjd.16832. https://www.ncbi.nlm.nih.gov/pubmed/29878302. Accessed September 6 2018.

5. Combination of palmoplantar keratoderma and hair shaft anomalies, the warning signal of severe arrhythmogenic cardiomyopathy: a systematic review on genetic desmosomal diseases

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. The role of genetic testing in management and prognosis of individuals with inherited cardiomyopathies;Trends in Cardiovascular Medicine;2024-07

2. Critical Importance of Genetic Screening in Family Members;JACC: Heart Failure;2022-11

3. Towards a Better Understanding of Genotype–Phenotype Correlations and Therapeutic Targets for Cardiocutaneous Genes: The Importance of Functional Studies above Prediction;International Journal of Molecular Sciences;2022-09-15

4. Atopy as Immune Dysregulation: Offender Genes and Targets;The Journal of Allergy and Clinical Immunology: In Practice;2022-07

5. A 45-year-old man with sudden cardiac death, cutaneous abnormalities and a rare desmoplakin mutation: a case report and literature review;BMC Cardiovascular Disorders;2022-02-12

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