Clinical and genetic analysis in 126 Chinese patients with hypophosphatemic rickets and PHEX gene fu

来源 :第七届国际骨质疏松及骨矿盐疾病学术会议 | 被引量 : 0次 | 上传用户:fanqiefanqie
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
Background: Hypophosphatemic rickets (HR) is a disorder of phosphate homeostasis characterized by rachitic, growth retardation, hypophosphatemia and renal phosphate wasting.X-linked dominant HR (XLHR), caused by inactivating mutations in phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX), is the most common form of HR, but the phenotype-genotype relationship remains unclear.
其他文献
Background: Low BMI is a risk factor for osteoporosis, and is positively related to BMD.This belief has been questioned by recent epidemiologic studies about the relation between obesity and osteoporo
会议
Background: Peak bone mass is an important determinant of the risk of osteoporosis later in life.Previous researches conducted in older species have showed that the 6 Wnt signaling pathway genes (incl
会议
Background: Rheumatoid arthritis (RA) is an autoimmune inflammatory polyarthritis that often leads to joint destruction, deformity, and loss of function.The immune system has been the primary target o
会议
骨质疏松性骨折临床干预时存在许多挑战.主要表现在:对骨质疏松及其骨折本身的专业认识和技术处理两大方面.1,认识误区:轻视骨质疏松及其骨折的起源和危险因素,缺乏对骨骼状态的认识和分析;轻视骨密度测定对骨质疏松性骨折诊治的重要意义,缺乏对骨质疏松性骨折愈合影响因素的认识;轻视骨质疏松骨折的综合干预,尤其是骨质疏松再骨折的预防.
会议
Background: It has been proven that activation of canonical Wnt/β-catenin signaling pathway in both mesenchymal stem cells and osteoblasts can increase bone mass, showing promise in the treatment of l
会议
Background: CD31hiEmcnhi vessel, a specific vessel subtype, couples angiogenesis and osteogenesis.This study aims to investigate the critical mechanisms involved in the regulation of CD31hiEmcnhi vess
会议
Background: Oxidative stress has been recently considered the deleterious factor in the development and progression of osteoporosis.This study aims to investigate the action of natural antioxidant Tan
会议
Background: Calcitriol (1,25(OH)2D3), a powerful regulator of phosphate metabolism and immune response, is generated by 25-hydroxyvitamin D 1 o-hydroxylase (1 α H) in the kidney and in macrophages.Ren
会议
Background: Bone mineral density (BMD), a diagnostic parameter for osteoporosis and a clinical predictor of fracture,is a highly heritable trait, but the genetic variants involved are largely unknown.
会议
Background: Neurotrophic factors have been implicated in bone fracture healing.Recently, we observed the most prominent induction ofneurotrophin-3 (NT-3) among all members of the neurotrophin family d
会议