Article
DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.
The Journal of experimental medicine - 18 Aug 2003
Paloneva Juha, Mandelin Jami, Kiialainen Anna, Bohling Tom, Prudlo Johannes, Hakola Panu, Haltia Matti, Konttinen Yrjo T, Peltonen Leena
Abstract excerpt
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), Nasu-Hakola disease, is a globally distributed recessively inherited disease. PLOSL is characterized by cystic bone lesions, osteoporotic features, and loss of white matter in the brain leading to spontaneous bone fractures and profound presenile dementia. We have earlier characterized the molecular genetic background of PLOSL...
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