Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone ...
Osteogenesis imperfectaWeightOsteogenesis imperfecta (OI) predisposes people to recurrent fractures, bone deformities, and short stature. There is a lack of large-scale systematic studies that have investigated growth parameters in OI.Using data from the Linked Clinical Research Centers, we compared ...
The aim of this study was to identify the craniofacial characteristics of 16 osteogenesis imperfecta (OI) patients, 10 males and 6 females, aged 7-15 years. The control group comprised 863 Chinese children from 6 to 18 years of age. Eleven cephalometric reference points and 25 variables were ...
Pathohistological properties and histomorphometric characteristics of cancellous bone tissue in iliobiopsies of patients with osteogenesis imperfectaV. V. GrigorovskyA. M. Zyma
Osteogenesis imperfecta (OI) is a hereditary bone disorder caused by defects of type I collagen. Although up to 90% of patients harbor pathogenic variants in the COL1A1/2 gene, which codes for collagen α1/2 chains, the spectrum of OI genotypes may differ between populations, and there is...
Worsening of Callus Hyperplasia after Bisphosphonate Treatment in Type V Osteogenesis Imperfecta. Case characteristics: A 16-year-old boy who presented with history of recurrent fractures, had hard persistent swellings at fracture sites, and had ... P Ranganath,J Stephen,R Iyengar,... - 《Indian...
Of special importance is their use in the treatment of osteogenesis imperfecta (OI), which appeared to be the only reasonable therapeutic strategy. MSCs seem to represent a future powerful tool in regenerative medicine, therefore they are particularly important in medical research. 展开 ...
Copyright 2013 Wiley Periodicals, Inc. 展开 关键词: Humans Osteogenesis Imperfecta Neoplasm Proteins Chloride Channels Protein Structure, Tertiary Mutation Gene Expression Regulation Amino Acid Sequence Alleles Protein Stability DOI: 10.1002/jcp.24431 被引量: 25 年份: 2014 收藏 引用 批量引用 报错 分享 ...
We describe a male patient with osteogenesis imperfecta (OI) who was born with contractures of the knee, elbow and ankle joints. During the first 4 years h... RE Brenner,U Vetter,H Stöss,... - 《European Journal of Pediatrics》 ...
Bone development and formation involves a very complex series of events that need to be tightly orchestrated in a spatial and temporal manner1,2. A vast number of genes expressed in growth plate chondrocytes that control longitudinal growth have been identified and characterized in detail3. These ...