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Single nuclei RNAseq of the human periosteum from patients with congenital pseudarthrosis of the tibia

GSE232516 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 at the pseudarthrosis site. To understand the impact of NF1 mutation on the periosteum, we performed single nuclei RNAseq of pathological periosteum collected from the pseudarthrosis site and of non-pathological periosteum collected from the iliac crest of 3 CPT patients.
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 PRJNA972648 and SRA study SRP437685. Searching any of these in the dataset finder brings you back here.

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