The molecular and functional interplay between the osteopetrosis-associated proteins SNX10, OSTM1, and CLC-7 during mouse osteoclastogenesis [0.03%]
在小鼠破骨细胞发生过程中，与高雪氏病相关的SNX10、OSTM1和CLC-7蛋白的分子及功能相互作用关系研究
Nina Reuven,Sabina Winograd-Katz,Maayan Barnea-Zohar et al.
Nina Reuven et al.
Bone-resorbing osteoclasts (OCLs) are large, multi-nucleated cells that are formed through well-regulated differentiation and cell fusion of monocyte-macrophage precursors. Abnormally increased or decreased OCL-mediated bone resorption pert...
Letter to the Editor: More on bone microarchitecture and volumetric BMD in men and women with PLS3 gene variants assessed with HR-pQCT [0.03%]
致编辑的信：有关PLS3基因变异受试者骨微结构和体积BMD的研究（HR-pQCT评估）
Arnaud Vanjak,Martine Cohen-Solal,Roland Chapurlat et al.
Arnaud Vanjak et al.
CDK4 inhibition reduces proliferation and mineralization in MAP2K1+ melorheostosis: opening a pathway to treatment [0.03%]
CDK4抑制可减少MAP2K1+ melorheostosis中的增殖和矿化：开启治疗途径
Jyotirindra Maity,Gourinandan Saravanan,Fatemeh Navid et al.
Jyotirindra Maity et al.
Melorheostosis is a rare disease where excessive bone overgrowth and exostoses cause deformity and pain. Somatic mutations of MAP2K1 result in hyperactivation of the ERK pathway in osteoblasts and increase in vitro mineralization. There is ...
Combined Treatment with a C-Type Natriuretic Peptide Analog and Bisphosphonate Enhances Bone Growth in Growing Mice with Osteogenesis Imperfecta: A Pilot Study [0.03%]
C型利钠肽类似物与双磷酸盐联合治疗可增强成骨不全症生长小鼠的骨增长：一项初步研究
Jack E Mulcrone,Ketsia Seide,Jonathan Chacko et al.
Jack E Mulcrone et al.
Osteogenesis imperfecta (OI) is a heterogenous type 1 collagenopathy characterized by recurrent fractures, decreased bone mass, and shorter stature. Bisphosphonates reduce fracture incidence in children with OI but do not improve growth vel...
A randomized Phase 1b trial evaluating the pharmacodynamics of ilofotase alfa in adults with hypophosphatasia [0.03%]
伊洛福莎肽治疗低磷血症的药理学原理：一项随机Ib期试验
Lothar Seefried,Juliane Bernholz,Maarten Kraan et al.
Lothar Seefried et al.
Hypophosphatasia is a rare genetic disease caused by deficient alkaline phosphatase activity. In adults, this causes functional limitations, substantial disability with pain and reduced quality of life. This Phase 1b, single-center, open-la...
Lonafarnib Clinical Trials Demonstrate Uncoupling of the Muscle-Bone Unit in Hutchinson-Gilford Progeria Syndrome [0.03%]
伦伐替尼临床试验揭示 Hutchinson-Gilford 前列贺氏症骨骼肌分离现象
Raymond J Kreienkamp,Leslie B Gordon,Rachel Ehrbar et al.
Raymond J Kreienkamp et al.
Hutchinson-Gilford Progeria Syndrome (HGPS) is a devastating ultrarare genetic premature aging disease resulting in early atherosclerosis and death during adolescence due to heart failure. Structures of mesenchymal origin, including bone, f...
miR-433 targets BMP and Indian Hedgehog signaling to coordinate murine postnatal growth plate dynamics [0.03%]
微小RNA-433通过靶向骨形态发生蛋白和印度尼西亚豪猪信号通路来协调小鼠生后生长板的动态变化
Prachi Thakore,Spenser S Smith,Sangita Karki et al.
Prachi Thakore et al.
The postnatal growth plate undergoes dynamic morphogenetic changes essential for endochondral bone formation. While morphogen signaling in this context is well studied, microRNA-mediated post-transcriptional control is poorly understood. He...
Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework [0.03%]
基于证据的骨骼疾病相关基因分类：使用ClinGen注释框架
Ryan F Webb,Hannah McCurry,Amanda Girod et al.
Ryan F Webb et al.
More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in one of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strengt...