ArticleExperimental & molecular medicine2017
A FKBP5 mutation is associated with Paget's disease of bone and enhances osteoclastogenesis.
Article in Experimental & molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 30 citations in OpenAlex.
- BPM Exposure Induces Pulmonary Dysfunction in Adult Mice and Adverse Intergenerational Pulmonary Effects in Offspring.Environment & health (Washington, D.C.) · 2026Article
- Inhibition of FKBP5 alleviates obstetric antiphospholipid syndrome by regulating macrophage polarization.Scientific reports · 2025Article
- FKBP5 Regulates Osteogenesis of Human iPSC-Derived Mesenchymal Stem Cells via FKBP5-AKT-FOXO1 Pathway.Journal of cellular and molecular medicine · 2025Article
- FKBP5 Regulates the Osteogenesis of Human Adipose-derived Mesenchymal Stem Cells.Current medical science · 2024Article
- Construction of an interactome network among circRNA-miRNA-mRNA reveals new biomarkers in hBMSCs osteogenic differentiation.Scientific reports · 2024Article
- Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs.Journal of animal science and biotechnology · 2023Article
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- Update on the pathogenesis and genetics of Paget's disease of bone.Frontiers in cell and developmental biology · 2022Review
- Expression of FKBP prolyl isomerase 5 gene in tissues of muscovy duck at different growth stages and its association with muscovy duck weight.Animal bioscience · 2022Article
- The nonreceptor tyrosine kinase SRMS inhibits autophagy and promotes tumor growth by phosphorylating the scaffolding protein FKBP51.PLoS biology · 2021Article
- Targeted sequencing ofBone reports · 2019Article
- Identification of miR-708-5p in peripheral blood monocytes: Potential marker for postmenopausal osteoporosis in Mexican-Mestizo population.Experimental biology and medicine (Maywood, N.J.) · 2018Article
- Human Genetics of Sclerosing Bone Disorders.Current osteoporosis reports · 2018Review
- Maxillary Bone Regeneration Based on Nanoreservoirs FunctionalizedBioMed research international · 2018Article
- Alkaline phosphatase and acid phosphatase in health and disease - A systematic review.Journal of oral and maxillofacial pathology : JOMFPReview
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paget's disease of bone (PDB) is a common metabolic bone disease that is characterized by aberrant focal bone remodeling, which is caused by excessive osteoclastic bone resorption followed by disorganized osteoblastic bone formation. Genetic factors are a critical determinant of PDB pathogenesis, and several susceptibility genes and loci have been reported, including SQSTM1, TNFSF11A, TNFRSF11B, VCP, OPTN, CSF1 and DCSTAMP. Herein, we report a case of Chinese familial PDB without mutations in known genes and identify a novel c.163G>C (p.Val55Leu) mutation in FKBP5 (encodes FK506-binding protein 51, FKBP51) associated with PDB using whole-exome sequencing. Mutant FKBP51 enhanced the Akt phosphorylation and kinase activity in cells. A study of osteoclast function using FKBP51
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