Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunitBBIP1(BBS18)
Author:
Publisher
BMJ
Subject
Genetics(clinical),Genetics
Reference19 articles.
1. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey;Beales;J Med Genet,1999
2. A BBSome subunit links ciliogenesis, microtubule stability, and acetylation;Loktev;Dev Cell,2008
3. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis;Nachury;Cell,2007
4. A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened;Seo;PLoS Genet,2011
5. The conserved Bardet-Biedl syndrome proteins assemble a coat that traffics membrane proteins to cilia;Jin;Cell,2010
Cited by 120 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. Deciphering vesicle-assisted transport mechanisms in cytoplasm to cilium trafficking;Frontiers in Cellular Neuroscience;2024-05-27
2. Predictive Role of Cluster Bean (Cyamopsis tetragonoloba) Derived miRNAs in Human and Cattle Health;Genes;2024-04-01
3. Bardet‐Biedl syndrome: A focus on genetics, mechanisms and metabolic dysfunction;Diabetes, Obesity and Metabolism;2024-02
4. Developmental Abnormalities of the Kidneys;Avery's Diseases of the Newborn;2024
5. Biallelic Variants in Seven Different Genes Associated with Clinically Suspected Bardet–Biedl Syndrome;Genes;2023-05-19
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