• 不 限
  • 期刊论文
  • 硕博论文
  • 会议论文
  • 报 纸
  • 英文论文
  2. 您的位置
  3. 首页
  4. 会议论文
  5. Analysis of novel mutations in CYP27B1 and response to short-term active vitamin D3 treatment in Chi

Analysis of novel mutations in CYP27B1 and response to short-term active vitamin D3 treatment in Chi

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：allenwyh
【摘 要】
：
Background: Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1 a-hydroxylase, which is encoded by the CYP27B1 gene.
【作 者】
：
Yue Chi Jing Sun Li Pang Ruizhi Jiajue Yan Jiang Ou Wang Mei Li Xiaoping Xing Yingying Hu Xueying Zhou Xunwu Meng Weibo Xia 
【机 构】
：
Department of Endocrinology, Key Laboratory of Endocrinology, Ministry of Health, Peking Union Medic
【出 处】
：
第七届国际骨质疏松及骨矿盐疾病学术会议
【发表日期】
：
2014年3期
下载到本地 , 更方便阅读
下载此文 赞助VIP
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: Pseudovitamin D-deficiency rickets (PDDR) is a rare autosomal recessive disorder resulting from a defect in renal 25-hydroxyvitamin D 1 a-hydroxylase, which is encoded by the CYP27B1 gene.The aim of this study was to identify the CYP27B 1 mutations and investigate the response to short-term treatment of calcitriol in Chinese patients with PDDR.
其他文献
The BMD both in cortical and trabecular lumbar vertebrae decreased significantly in Chinese patients
Background: To assess the changes of bone mineral density (BMD) in patients with ankylosing spondylitis (AS) by QCT and guide the clinical treatment.Methods: The BMD of lumbar vertebra 1-5 were measur
会议
Bone mineral density, spinal micro-architecture (tbs data) and body composition in the older Ukraini
Background: Osteoporosis and sarcopenia are the most frequent musculoskeletal disorders affecting older people.Fracture incidence as well as the number of fractures increase due to the population s ag
会议
Early regional adaptation of bone mineral density after anterior cruciate ligament reconstruction
Background: The aim of the study was to analyze the adaptation of bone mineral destiny (BMD) and its influence on cartilage damage after anterior cruciate ligament (ACL) reconstruction in a combined r
会议
Regional features of bone mineral density in women kuzbass (Western Siberia, Russia)
Background: In the diagnosis of osteoporosis is important dual-energy X-ray absorptiometry (DXA).During DXA bone mineral density of the patient compared with the reference database that was originally
会议
MicroRNA-34c在间充质干细胞自发成骨分化过程中的作用机制研究
目的 检测在人骨髓间充质干细胞(MSC)自发成骨分化过程中miR-34c的表达变化及其启动子区甲基化程度的变化,探索miR-34c在MSC自发成骨分化过程中的作用及调控机制.方法 通过多次传代构建老化MSC模型,通过对硝基苯酚法、放射免疫法及Western blot检测在MSC自发老化的过程中ALP活性、OC分泌以及Runx2蛋白的表达变化,以明确在MSC老化过程中其成骨能力的改变;用qRT-PC
会议
Seven novel PHEX gene mutations in Chinese subjects with X-linked hypophosphatemic rickets/osteomala
Background: X-linked hypophosphatemic rickets/osteomalacia (XLH;OMIM307800), the most frequent form of inherited rickets in human, is a dominant disorder of phosphate homeostasis resulting in defectiv
会议
Association between vitamin d gene receptors polymorphisms, secondary hyperparathyroidism,and struct
Background: Aim is to determine the association between vitamin D gene receptors polymorphisms, secondary hyperparathyroidism, and structural-functional state of bone tissue in postmenopausal women.
会议
Novel CAII mutations and clinical manifestations in two Chinese patients with carbonic anhydrase Ⅱ d
Background: Mutations in CAII gene have been found to cause carbonic anhydrase Ⅱ (CAII) deficiency syndrome,which is a rare autosomal recessive osteopetrosis with renal tubular acidosis (RTA) and cere
会议
Efficacy and safety of alendronate in Chinese children with osteogenesis imperfecta: a large sample
Background: Osteogenesis imperfecta (OI) is a heritable collagen-related bone dysplasia, characterized by brittle bones with increased fracture risk.Treatments to reduce fracture incidence in Chinese
会议
Clinical characterization and genetic analysis of TRPV4-related skeletal dysplasias in 4 Chinese fam
Background: TRPV4-associated skeletal dysplasias are,from mild to severe:Familial digital arthropathy-brachydactyly (FDAB), Autosomal dominant brachyolmia (ADBO),Spondylometaphyseal dysplasia, Kozlows
会议