排序方式: 共有2条查询结果,搜索用时 15 毫秒
1
1.
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
2.
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
1