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RNAseq of periosteal stem/progenitor cells from patients with congenital pseudarthrosis of the tibia

GSE234071 Homo sapiens Expression profiling by high throughput sequencing 4 samples Submitted 2024/07/24 Platform GPL24676
Summary
Congenital pseudarthrosis of the tibia (CPT) is a severe pediatric disorder affecting children. CPT is characterized by tibial bowing at birth leading to spontaneous fracture and fibrous non-union. Our study showed the presence of biallelic inactivation of the NF1 gene in the periosteum and in periosteal skeletal/stem progenitor cells (pSSPCs) at the pseudarthrosis site.
Published in
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells
Perrin S, Protic S, Bretegnier V et al. · Science translational medicine 2024 · PMID 38924432 · doi:10.1126/scitranslmed.adj1597
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Also filed as BioProject PRJNA979261 and SRA study SRP440895. Searching any of these in the dataset finder brings you back here.

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