FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
Author:
Funder
National Institutes of Health
Fund for Scientific Research, Flanders
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference126 articles.
1. Segregation of a novel FBN1 gene mutation, G1796E, with kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations;Adѐs;Am. J. Med. Genet.,2002
2. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis;Ahram;Am. J. Hum. Genet.,2009
3. The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele;Aubart;Hum. Mol. Genet.,2015
4. A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1, fibrillin-2, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module;Bader;Matrix Biol.,2012
5. The supramolecular organization of fibrillin-rich microfibrils;Baldock;J. Cell Biol.,2001
Cited by 246 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. Hybrid approach to achieve secure distal seal zones during endovascular aortic repair in a patient with Marfan syndrome;Journal of Vascular Surgery Cases, Innovations and Techniques;2024-12
2. Generation of Marfan syndrome-specific induced pluripotent stem cells harboring FBN1 mutations;Stem Cell Research;2024-10
3. Tissue material properties, whole-bone morphology and mechanical behavior in the Fbn1C1041G/+ mouse model of Marfan syndrome;Matrix Biology Plus;2024-08
4. The role of asprosin in regulating ovarian granulosa- and theca-cell steroidogenesis: a review with comparisons to other adipokines;Reproduction, Fertility and Development;2024-07-29
5. Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals;Journal of the American Heart Association;2024-07-16
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