Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.

@article{Wang2011MiceLN,
  title={Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I.},
  author={Weixi Wang and Jeffry S Nyman and Koichiro Ono and David A. Stevenson and Xiangli Yang and Florent Elefteriou},
  journal={Human molecular genetics},
  year={2011},
  volume={20 20},
  pages={
          3910-24
        }
}
Mutations in NF1 cause neurofibromatosis type I (NF1), a disorder characterized, among other clinical manifestations, by generalized and focal bony lesions. Dystrophic scoliosis and tibial pseudoarthrosis are the most severe skeletal manifestations for which treatment is not satisfactory, emphasizing the dearth of knowledge related to the biology of NF1 in bone cells. Using reporter mice, we report here that the mouse Col2α1-Cre promoter (collagen, type II, alpha 1) is active not only in… CONTINUE READING

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