[HTML][HTML] Hajdu Cheney Mouse Mutants Exhibit Osteopenia, Increased Osteoclastogenesis, and Bone Resorption*♦
E Canalis, L Schilling, SP Yee, SK Lee… - Journal of Biological …, 2016 - ASBMB
Notch receptors are determinants of cell fate and function and play a central role in skeletal
development and bone remodeling. Hajdu Cheney syndrome, a disease characterized by
osteoporosis and fractures, is associated with NOTCH2 mutations resulting in a truncated
stable protein and gain-of-function. We created a mouse model reproducing the Hajdu
Cheney syndrome by introducing a 6955C→ T mutation in the Notch2 locus leading to a
Q2319X change at the amino acid level. Notch2 Q2319X heterozygous mutants were …
development and bone remodeling. Hajdu Cheney syndrome, a disease characterized by
osteoporosis and fractures, is associated with NOTCH2 mutations resulting in a truncated
stable protein and gain-of-function. We created a mouse model reproducing the Hajdu
Cheney syndrome by introducing a 6955C→ T mutation in the Notch2 locus leading to a
Q2319X change at the amino acid level. Notch2 Q2319X heterozygous mutants were …