成骨不全
重编程
医学
发病机制
生物信息学
模式
身材矮小
遗传性疾病
基因组编辑
基因
疾病
病理
遗传学
儿科
生物
清脆的
社会科学
社会学
作者
Yu Sun,Liang-In Lin,Jiajun Wang,Huiting Liu,Hu Wang
出处
期刊:ACS pharmacology & translational science
[American Chemical Society]
日期:2024-01-02
被引量:1
标识
DOI:10.1021/acsptsci.3c00324
摘要
Osteogenesis imperfecta (OI) is an uncommon genetic disorder characterized by shortness of stature, hearing loss, poor bone mass, recurrent fractures, and skeletal abnormalities. Pathogenic variations have been found in over 20 distinct genes that are involved in the pathophysiology of OI, contributing to the disorder’s clinical and genetic variability. Although medications, surgical procedures, and other interventions can partially alleviate certain symptoms, there is still no known cure for OI. In this Review, we provide a comprehensive overview of genetic pathogenesis, existing treatment modalities, and new developments in biotechnologies such as gene editing, stem cell reprogramming, functional differentiation, and transplantation for potential future OI therapy.
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