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Prawitt D Enklaar T Gärtner-Rupprecht B Spangenberg C Lausch E Reutzel D Fees S Korzon M Brozek I Limon J Housman DE Pelletier J Zabel B 《Nature genetics》2005,37(8):785-6; author reply 786-7
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Lausch E Janecke A Bros M Trojandt S Alanay Y De Laet C Hübner CA Meinecke P Nishimura G Matsuo M Hirano Y Tenoutasse S Kiss A Rosa RF Unger SL Renella R Bonafé L Spranger J Unger S Zabel B Superti-Furga A 《Nature genetics》2011,43(2):132-137
Vertebral and metaphyseal dysplasia, spasticity with cerebral calcifications, and strong predisposition to autoimmune diseases are the hallmarks of the genetic disorder spondyloenchondrodysplasia. We mapped a locus in five consanguineous families to chromosome 19p13 and identified mutations in ACP5, which encodes tartrate-resistant phosphatase (TRAP), in 14 affected individuals and showed that these mutations abolish enzyme function in the serum and cells of affected individuals. Phosphorylated osteopontin, a protein involved in bone reabsorption and in immune regulation, accumulates in serum, urine and cells cultured from TRAP-deficient individuals. Case-derived dendritic cells exhibit an altered cytokine profile and are more potent than matched control cells in stimulating allogeneic T cell proliferation in mixed lymphocyte reactions. These findings shed new light on the role of osteopontin and its regulation by TRAP in the pathogenesis of common autoimmune disorders. 相似文献
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