Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepip...
Aims TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathybrachydactyly (FDAB),Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia,Kozlowski type (SMDK),Spondyloepiphyseal dysplasia,Maroteaux type (SEDM),Metatropic dysplasia (MD) and Parastremmatic *** recruited 3 families (F1,2 and 3) with congenital scoliosis and 1 family (F4) with localized digital osteopetrosis,which had not been *** this study,we aimed to further analyze the clinical,biochemical and radiographic features of the 4 families and use the next generation sequencing system to obtain the accurate genetic diagnosis for these patients.
最近的研究发现，与传统的白色和棕色脂肪细胞不同，脂肪组织中还存在另外一种新型的脂肪细胞，它们散在分布于白色脂肪组织中，受寒冷刺激或B，肾上腺素能受体激动剂激活后，表现出棕色脂肪细胞的特点，棕色脂肪细胞特异的解耦联蛋白1（UCPl）等基因的表达显著增高，产热和能量消耗能力增强。这一过程被称为“白色脂肪细胞棕色化”，这些细胞被命名为brite（brown to white）细胞或者beige （the intermediate color between white and brown）细胞。由于beige细胞在机体内分布广泛，并具有显著的消耗能量的功能，因此可能成为未来减肥药物开发的靶点。
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