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A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva 总被引:5,自引:0,他引:5
Shore EM Xu M Feldman GJ Fenstermacher DA Cho TJ Choi IH Connor JM Delai P Glaser DL LeMerrer M Morhart R Rogers JG Smith R Triffitt JT Urtizberea JA Zasloff M Brown MA Kaplan FS 《Nature genetics》2006,38(5):525-527
Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal dominant disorder of skeletal malformations and progressive extraskeletal ossification. We mapped FOP to chromosome 2q23-24 by linkage analysis and identified an identical heterozygous mutation (617G --> A; R206H) in the glycine-serine (GS) activation domain of ACVR1, a BMP type I receptor, in all affected individuals examined. Protein modeling predicts destabilization of the GS domain, consistent with constitutive activation of ACVR1 as the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP. 相似文献
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Absorption by the rat of alginate labelled with carbon-14 总被引:1,自引:0,他引:1
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