Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice.

@article{Kaifu2003OsteopetrosisAT,
  title={Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice.},
  author={Tomonori Kaifu and Jin Nakahara and Masanori Inui and Kenichi Mishima and Toshihiko Momiyama and Mitsuji Kaji and Akiko Sugahara and Hisami Koito and Azusa Ujike-Asai and Makoto Nakamura and Kiyoshi Kanazawa and Kyoko Tan-Takeuchi and Katsunori Iwasaki and Wayne M Yokoyama and Akira Kudo and Michihiro Fujiwara and Hiroaki Asou and Toshiyuki Takai},
  journal={The Journal of clinical investigation},
  year={2003},
  volume={111 3},
  pages={
          323-32
        }
}
Deletions in the DAP12 gene in humans result in Nasu-Hakola disease, characterized by a combination of bone fractures and psychotic symptoms similar to schizophrenia, rapidly progressing to presenile dementia. However, it is not known why these disorders develop upon deficiency in DAP12, an immunoreceptor signal activator protein initially identified in the immune system. Here we show that DAP12-deficient (DAP12(-/-)) mice develop an increased bone mass (osteopetrosis) and a reduction of myelin… CONTINUE READING

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