Congenital generalized lipodystrophy, type 4 (CGL4) associated with myopathy due to novel PTRF mutations
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference32 articles.
1. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy;Agarwal;J Clin Endocrinol Metab,2003
2. Higher adiponectin levels in patients with Berardinelli-Seip congenital lipodystrophy due to seipin as compared with 1-acylglycerol-3-phosphate-O-acyltransferase-2 deficiency;Antuna-Puente;J Clin Endocrinol Metab,2010
3. Caveolae, ion channels and cardiac arrhythmias;Balijepalli;Prog Biophys Mol Biol,2008
4. Localization of cardiac L-type Ca(2+) channels to a caveolar macromolecular signaling complex is required for beta(2)-adrenergic regulation;Balijepalli;Proc Natl Acad Sci USA,2006
5. Localization of f-channels to caveolae mediates specific beta2-adrenergic receptor modulation of rate in sinoatrial myocytes;Barbuti;J Mol Cell Cardiol,2007
Cited by 110 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. Metabolic and other morbid complications in congenital generalized lipodystrophy type 4;American Journal of Medical Genetics Part A;2024-01-17
2. Monogenic Causes of Diabetes;Textbook of Diabetes;2024-01-12
3. A new mutation in the CAVIN1/PTRF gene in two siblings with congenital generalized lipodystrophy type 4: case reports and review of the literature;Frontiers in Endocrinology;2023-07-12
4. Decoding the transcriptome of muscular dystrophy due to Ptrf deficiency using single‐nucleus RNA sequencing;The FASEB Journal;2023-05-26
5. Accelerated epigenetic aging and DNA methylation alterations in Berardinelli–Seip congenital lipodystrophy;Human Molecular Genetics;2023-01-28
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