Publications by authors named "Chris Schoenherr"
Mice harboring Notch2 mutations replicating Hajdu-Cheney syndrome (Notch2) have osteopenia and exhibit an increase in splenic marginal zone B cells with a decrease in follicular B cells. Whether the altered B-cell allocation is responsible for the osteopenia of Notch2 mutants is unknown. To determine the effect of NOTCH2 activation in B cells on splenic B-cell allocation and skeletal phenotype, a conditional-by-inversion (COIN) Hajdu-Cheney syndrome allele of Notch2 (Notch2) was used.
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- Hajdu-Cheney syndrome (HCS) is linked to mutations that enhance NOTCH2 stability, leading to osteoporosis due to increased bone resorption.
- Researchers created a genetically modified mouse model to study how these mutations specifically affect osteoclasts (bone-resorbing cells) and osteoblasts (bone-forming cells).
- The study found that activating the HCS mutation in osteoblasts caused significant osteopenia, whereas activating it in osteoclasts did not impact bone density.