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...
Bone microarchitecture declines in older men with impaired renal function- the prospective STRAMBO study [0.03%]
肾功能不全老年人骨微结构下降──STRAMBO前瞻性研究
Audrey Bobiller,Danielle Whittier,Laurence Derain Dubourg et al.
Audrey Bobiller et al.
Chronic kidney disease (CKD) may be complicated by mineral and bone disorders (CKD-MBD). Data on the association between estimated glomerular filtration rate (eGFR) and bone microarchitecture are limited. We studied the link between eGFR an...
Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish [0.03%]
GNAS基因失活变异通过干扰G蛋白偶联受体信号转导在人和斑马鱼中导致多颅缝早闭症
Qing Yan,Wei Zhou,Han Li et al.
Qing Yan et al.
G protein α-subunit (Gαs), encoded by GNAS, mediates GPCR signaling through cAMP second messenger pathways, and plays a pivotal role in craniofacial morphogenesis and osteoblast differentiation. Craniosynostosis, one of the most prevalent...
Liquid-liquid phase separation in physiological and pathophysiological bone turnover [0.03%]
生理和病理生理骨转换中的液-液相分离现象
Yuxian Xia,Weijian Xu,Xiaofeng Yang et al.
Yuxian Xia et al.
The regulation of bone physiology and pathophysiology is intricately controlled by a complex interplay of cellular and molecular mechanisms. In these processes, the precise spatiotemporal coordination of biological activities in bone-reside...
Gαi1/3 Regulates Wnt/β-Catenin Signaling to Promote Osteogenesis and Bone Formation [0.03%]
Gαi1/3通过调节Wnt/β-连环蛋白信号促进成骨和骨形成
Jinyu Bai,Xueli Qiu,Huajian Shan et al.
Jinyu Bai et al.
Objectives: The Wnt/β-catenin signaling pathway is a classical pathway that regulates bone metabolism. The G protein inhibitory α subunits 1 and 3 (Gαi1/3) can couple with multiple growth factor/cytokine receptors and ...
Vitamin C as an Epigenetic Gatekeeper of Osteogenesis and Skeletal Health - a New Perspective on an Ancient Molecule [0.03%]
维生素C作为骨生成和骨骼健康表观遗传调节因子的新视角——一种古老分子的全新视角
Roman Thaler
Roman Thaler
Vitamin C has been long recognized as an important nutrient for skeletal biology, historically attributed to its role in collagen synthesis and connective tissue integrity. Recent studies, however, reveal vitamin C as a critical epigenetic ...
Hypophosphatasia: Low Penetrance of Pathogenic and Likely-Pathogenic ALPL Variants Identified Through an Unselected Biorepository [0.03%]
低磷血症：通过非选择生物库鉴定的致病和疑似致病ALPL变异的低渗透性
Kathryn M Dahir,Jennifer E Below,Jinyuan Liu et al.
Kathryn M Dahir et al.
Hypophosphatasia (HPP) is a heritable multisystem disorder caused by pathogenic variants in the tissue non-specific alkaline phosphatase (ALP)-coding gene ALPL. The genotype-phenotype correlation in heterozygous adults with HPP remains inco...