Heritable Skeletal Disorders Arising from Defects in Processing and Transport of Type I Procollagen from the ER: Perspectives on Possible Therapeutic Approaches
Author:
Publisher
Springer International Publishing
Link
http://link.springer.com/content/pdf/10.1007/164_2017_67
Reference183 articles.
1. Alanay Y, Avaygan H, Camacho N et al (2010) Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet 86:551–559. https://doi.org/10.1016/j.ajhg.2010.02.022
2. Al-Dosari M, Alkuraya FS (2009) A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations. Am J Med Genet A 149A:2093–2098. https://doi.org/10.1002/ajmg.a.32996
3. Alshammari MJ, Al-Otaibi L, Alkuraya FS (2012) Mutation in RAB33B, which encodes a regulator of retrograde Golgi transport, defines a second Dyggve-Melchior-Clausen locus. J Med Genet 49:455–461. https://doi.org/10.1136/jmedgenet-2011-100666
4. Amini AR, Laurencin CT, Nukavarapu SP (2012) Bone tissue engineering: recent advances and challenges. Crit Rev Biomed Eng 40:363–408. https://doi.org/10.1615/CritRevBiomedEng.v40.i5.10
5. Aridor M (2007) Visiting the ER: the endoplasmic reticulum as a target for therapeutics in traffic related diseases. Adv Drug Deliv Rev 59:759–781
Cited by 3 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. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects;Orphanet Journal of Rare Diseases;2022-01-31
2. Procollagen Trafficking and its Implications in Osteogenesis Imperfecta;The Collagen Superfamily and Collagenopathies;2021
3. In silico analysis of nonsynonymous single‐nucleotide polymorphisms (nsSNPs) of the SMPX gene;Annals of Human Genetics;2019-10-03
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