干旱区生态环境知识资源中心(Arid): Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification

Arid

DOI	10.1186/s13023-023-02849-5
	Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification
	Yu, Hongjie; Li, Changrong; Wu, Huixiao; Xia, Weibo; Wang, Yanzhou; Zhao, Jiajun; Xu, Chao
通讯作者	Xu, C
来源期刊	ORPHANET JOURNAL OF RARE DISEASES
EISSN	1750-1172
出版年	2023
卷号	18 期号:1
英文摘要	Osteogenesis imperfecta (OI) is a connective tissue disorder affecting the skeleton and other organs, which has multiple genetic patterns, numerous causative genes, and complex pathogenic mechanisms. The previous classifications lack structure and scientific basis and have poor applicability. In this paper, we summarize and sort out the pathogenic mechanisms of OI, and analyze the molecular pathogenic mechanisms of OI from the perspectives of type I collagen defects(synthesis defects, processing defects, post-translational modification defects, folding and cross-linking defects), bone mineralization disorders, osteoblast differentiation and functional defects respectively, and also generalize several new untyped OI-causing genes and their pathogenic mechanisms, intending to provide the evidence of classification and a scientific basis for the precise diagnosis and treatment of OI.
英文关键词	Osteogenesis imperfecta Pathogenic mechanism Classification
类型	Review
语种	英语
开放获取类型	gold, Green Published
收录类别	SCI-E
WOS记录号	WOS:001044923800001
WOS关键词	PROLYL 3-HYDROXYLATION ; CREB/ATF-FAMILY ; MUTATIONS ; COLLAGEN ; PROPEPTIDE ; CLEAVAGE ; OASIS ; PHENOTYPE ; DISORDER ; CHANNELS
WOS类目	Genetics & Heredity ; Medicine, Research & Experimental
WOS研究方向	Genetics & Heredity ; Research & Experimental Medicine
资源类型	期刊论文
条目标识符	http://119.78.100.177/qdio/handle/2XILL650/397942
推荐引用方式 GB/T 7714	Yu, Hongjie,Li, Changrong,Wu, Huixiao,et al. Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification[J],2023,18(1).
APA	Yu, Hongjie.,Li, Changrong.,Wu, Huixiao.,Xia, Weibo.,Wang, Yanzhou.,...&Xu, Chao.(2023).Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification.ORPHANET JOURNAL OF RARE DISEASES,18(1).
MLA	Yu, Hongjie,et al."Pathogenic mechanisms of osteogenesis imperfecta, evidence for classification".ORPHANET JOURNAL OF RARE DISEASES 18.1(2023).