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April 26, 2026BoneOpen Access

A NOTCH2 pathogenic variant alters the osteoblast and vascular cell transcriptome of mouse femurs

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Authors

ECErnesto CanalisLSLauren SchillingEDEmily Denker

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Overview

Randomized trial demonstrates altered transcriptome in femurs of mice with NOTCH2 variant, indicating skeletal fragility.

Key Points

  • This study aims to investigate how a NOTCH2 pathogenic variant affects the transcriptome of femoral bones in mice.
  • Analyzed transcriptomes of femoral bones from control and Notch2 em1Ecan mice, excluding hematological cells.
  • Used single-cell RNA sequencing with microfluidic partitioning on a Chromium X instrument.
  • Employed Uniform Manifold Approximation and Projection (UMAP) to define 15 cell clusters.
  • Notch2 em1Ecan femurs showed a 35–45% decrease in osteogenic cell clusters and a 50–55% decrease in vascular cell clusters.
  • Hes1 expression was reduced in Notch2 em1Ecan cells.
  • scVelo analysis indicated suppressed transcriptional velocity in vascular and osteogenic clusters from Notch2 em1Ecan cells.

Cite This Study

Canalis et al. (2026) studied this question.

synapsesocial.com/papers/69edad4b4a46254e215b4ee8https://doi.org/10.1016/j.bone.2026.117909
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