ArticleCell death & disease2020
Activating PIK3CA mutation promotes osteogenesis of bone marrow mesenchymal stem cells in macrodactyly.
Article in Cell death & disease, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 35 citations in OpenAlex.
- Article
- Chemical composition, antitumor properties and underlying mechanism ofChinese herbal medicines · 2026Review
- Global research status and trends in macrodactyly research: Bibliometric and visualized analysis from 2005 to 2025.Medicine · 2026Article
- Trp53 loss drives the neoplastic transformation of Pik3caH1047R-induced vascular malformation in a mouse model.PloS one · 2026Article
- A clinico-molecular classification scheme for ossification of ligamentum flavum: Based on 1034 cases.Journal of orthopaedic translation · 2026Article
- Activating PIK3CA mutation promotes overgrowth of adipose tissue via inhibiting lipophagy in macrodactyly.Cell death & disease · 2025Article
- Activating PIK3CA mutations in adipose-derived stem cells drive mutant-like phenotypes of wild-type cells in macrodactyly.Cell death & disease · 2025Article
- LncRNA MRF targeting FSHR inhibits the osteogenic differentiation of BMSCs and bone defect repair through the regulation of the cAMP-PKA-CREB signaling pathway.Stem cell research & therapy · 2025Article
- Peptide-based inflammation-responsive implant coating sequentially regulates bone regeneration to enhance interfacial osseointegration.Nature communications · 2025Article
- Natural collagen scaffold with intrinsic piezoelectricity for enhanced bone regeneration.Materials today. Bio · 2025Article
- Impact of Different Cell Types on the Osteogenic Differentiation Process of Mesenchymal Stem Cells.Stem cells international · 2025Review
- An immortalized adipose-derived stem cells line from theBiochemistry and biophysics reports · 2024Article
- Revealing the novel metabolism-related genes in the ossification of the ligamentum flavum based on whole transcriptomic data.JOR spine · 2024Article
- PIK3CA mutations enhance the adipogenesis of ADSCs in facial infiltrating lipomatosis through TRPV1.iScience · 2024Article
- Macrodactyly.Children (Basel, Switzerland) · 2024Review
- BMP9 induces osteogenic differentiation through up-regulating LGR4 via the mTORC1/Stat3 pathway in mesenchymal stem cells.Genes & diseases · 2024Article
- Pten knockout in mouse preosteoblasts leads to changes in bone turnover and strength.JBMR plus · 2024Article
- Rehabilitation exercise-driven symbiotic electrical stimulation system accelerating bone regeneration.Science advances · 2024Article
- Enhancing postmenopausal osteoporosis: a study of KLF2 transcription factor secretion and PI3K-Akt signaling pathway activation by PIK3CA in bone marrow mesenchymal stem cells.Archives of medical science : AMS · 2024Article
- Resistin targets TAZ to promote osteogenic differentiation through PI3K/AKT/mTOR pathway.iScience · 2023Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Macrodactyly is a disabling congenital disease characterized by overgrowth of soft tissues and bones, which leads to finger enlargement and joint deformity. The mechanism of bone overgrowth in macrodactyly was rarely understood. In our study bone manifestations of three macrodactyly patients were analyzed by micro-CT. PIK3CA mutation was detected by next-generation sequencing (NGS) of a tumor gene-panel. The PI3K/AKT/mTOR pathway activation and target genes were analyzed. The osteogenic potential of macrodactyly-derived bone marrow mesenchymal stem cells (MAC-BMSCs) was compared with polydactyly-derived bone marrow mesenchymal stem cells (PD-BMSCs). PIK3CA inhibitors were tested for proliferation and osteogenesis potential of MAC-BMSCs. Activating PIK3CA mutations and activation of PI3K/AKT/mTOR pathway were detected in all MAC-BMSCs. MAC-BMSCs had enhanced osteogenesis potential compared with PD-BMSCs. PIK3CA knockdown by shRNA or BYL719 treatment significantly reduced osteogenic differentiation capacity of MAC-BMSCs. RNA-Seq and qRT-PCR revealed the upregulation of distal-less homeobox 5 (DLX5) in MAC-BMSCs compared with PD-BMSCs. The osteogenic potential of MAC-BMSCs was inhibited by DLX5 knockdown, indicating that DLX5 is a downstream target of PIK3CA activation-mediated osteogenesis. This study revealed that osteogenic differentiation in MAC-BMSCs is enhanced by PIK3CA activation mutation through PI3K/AKT/mTOR signaling pathway and can be reversed by PIK3CA knockdown or drug inhibition.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.