Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family-Reference-Cited by-同舟云学术

登录注册会员服务联系我们

Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family

Published:2015-04 Issue:4 Volume:58 Page:216-221
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Jelani Musharraf,Ahmed Saleem,Almramhi Mona Mohammad,Mohamoud Hussein Sheikh Ali,Bakur Khadijah,Anshasi Waseem,Wang Jun,Al-Aama Jumana Yousuf

Funder

King Abdulaziz University, Jeddah

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference30 articles.

1. Polymerase I and transcript release factor regulates lipolysis via a phosphorylation-dependent mechanism;Aboulaich;Diabetes,2011

2. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes;Aboulaich;Biochem J,2004

3. Hormonal control of reversible translocation of perilipin B to the plasma membrane in primary human adipocytes;Aboulaich;J Biol Chem,2006

4. AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34;Agarwal;Nat Genet,2002

5. Genetic basis of lipodystrophies and management of metabolic complications;Agarwal;Annu Rev Med,2006

Cited by 31 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. Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa;Orphanet Journal of Rare Diseases;2024-03-13

2. Familial Screening for the Prevention of Rare Diseases: A Focus on Lipodystrophy in Southern Saudi Arabia;Journal of Epidemiology and Global Health;2024-01-17

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. A deep learning-based tool for the automated detection and analysis of caveolae in transmission electron microscopy images;Computational and Structural Biotechnology Journal;2023

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