Article
Osteopetrosis and thalamic hypomyelinosis with synaptic degeneration in DAP12-deficient mice.
The Journal of clinical investigation - 1 Feb 2003
Kaifu Tomonori, Nakahara Jin, Inui Masanori, Mishima Kenichi, Momiyama Toshihiko, Kaji Mitsuji, Sugahara Akiko, Koito Hisami, Ujike-Asai Azusa, Nakamura Akira, Kanazawa Kiyoshi, Tan-Takeuchi Kyoko, Iwasaki Katsunori, Yokoyama Wayne M, Kudo Akira, Fujiwara Michihiro, Asou Hiroaki, Takai Toshiyuki
Abstract excerpt
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...
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