Substitutions for arginine at position 780 in triple helical domain of the α1(I) chain alter folding of the type I procollagen molecule and cause osteogenesis imperfecta
Author:
Funder
National Institute of Child Health and Human Development
National Institutes of Health
U.S. Public Health Service
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference61 articles.
1. Osteogenesis Imperfecta: A Translational Approach to Brittle Bone Disease;JR Shapiro,2014
2. Genetic heterogeneity in osteogenesis imperfecta;DO Sillence;J Med Genet,1979
3. Osteogenesis imperfecta;A Forlino;Lancet,2016
4. Autosomal Recessive Osteogenesis Imperfecta: A Puzzle for Bone Formation, Structure and Function;S Boudko;Curr Genet Med Rep,2013
5. Recessively inherited forms of osteogenesis imperfecta;PH Byers;Annu Rev Genet,2012
Cited by 16 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. Collagenopathies – The Ehlers-Danlos syndromes;Genomic and Molecular Cardiovascular Medicine;2024
2. COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-03-09
3. From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients;Biomolecules;2023-02-02
4. Cation−π Interactions and Their Role in Assembling Collagen Triple Helices;Biomacromolecules;2022-10-14
5. Tyrosine-sulfated dermatopontin shares multiple binding sites and recognition determinants on triple-helical collagens with proteins implicated in cell adhesion and collagen folding, fibrillogenesis, cross-linking, and degradation;Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics;2022-05
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