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W. A. Beresford 《Cellular and molecular life sciences : CMLS》1969,25(4):383-384
Zusammenfassung Die Heilungsvorgänge bei experimentell erzeugten Defekten der Parietalknochen junger Ratten wurden untersucht: Knorpel entwickelt sich im Kallus nach 9-28 Tagen bei Tieren mit einem Vitamin-A-Defizit, jedoch nur in einem von 19 Kontrolltieren, welche Vitamin A zusätzlich erhalten haben. 相似文献
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Briggs TA Rice GI Daly S Urquhart J Gornall H Bader-Meunier B Baskar K Baskar S Baudouin V Beresford MW Black GC Dearman RJ de Zegher F Foster ES Francès C Hayman AR Hilton E Job-Deslandre C Kulkarni ML Le Merrer M Linglart A Lovell SC Maurer K Musset L Navarro V Picard C Puel A Rieux-Laucat F Roifman CM Scholl-Bürgi S Smith N Szynkiewicz M Wiedeman A Wouters C Zeef LA Casanova JL Elkon KB Janckila A Lebon P Crow YJ 《Nature genetics》2011,43(2):127-131
We studied ten individuals from eight families showing features consistent with the immuno-osseous dysplasia spondyloenchondrodysplasia. Of particular note was the diverse spectrum of autoimmune phenotypes observed in these individuals (cases), including systemic lupus erythematosus, Sj?gren's syndrome, hemolytic anemia, thrombocytopenia, hypothyroidism, inflammatory myositis, Raynaud's disease and vitiligo. Haplotype data indicated the disease gene to be on chromosome 19p13, and linkage analysis yielded a combined multipoint log(10) odds (LOD) score of 3.6. Sequencing of ACP5, encoding tartrate-resistant acid phosphatase, identified biallelic mutations in each of the cases studied, and in vivo testing confirmed a loss of expressed protein. All eight cases assayed showed elevated serum interferon alpha activity, and gene expression profiling in whole blood defined a type I interferon signature. Our findings reveal a previously unrecognized link between tartrate-resistant acid phosphatase activity and interferon metabolism and highlight the importance of type I interferon in the genesis of autoimmunity. 相似文献
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