Osteogenesis imperfecta — also known as brittle bone disease — is a phenotypically and genotypically heterogeneous group of inherited bone dysplasias. This PrimeView illustrates the key mechanisms involved.doi:10.1038/nrdp.2017.53NoneSpringer NatureNature Reviews Disease Primers
Osteogenesis imperfecta (OI) is also known as “brittle bone disease.” The increased tissue brittleness and associated architectural changes result in a very variable degree of bone fragility, from occasional fractures to lethality. Treatment for OI currently focuses on increasing bone strength by incr...
Osteogenesis imperfecta, also known as 'brittle bone disease', is an inherited connective tissue disorder caused by defects in type 1 collagen. The disease results in low bone mass and reduced bone strength, often manifesting as multiple intrauterine fractures, skeletal abnormalities and death before ...
Osteogenesis Imperfecta(OI) is a group ofgenetic disordersthat primarily affect the bones, making them extremely weak. It is also known as ‘brittle bones disease’. This genetic disease is incurable and the treatment is primarily focused on pacifying the condition by reducing pain and...
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a genetic disorder of connective tissue and is identified by bone dysplasia and fragility (Martin and Shapiro2007; Forlino and Marini2016). With an estimated 25,000-50,0000 cases in the United States, it affects approximately...
Osteogenesis imperfecta (OI) is a rare genetic disorder also known as a "brittle bone disease." Around 90% of patients with OI harbor loss-of-function or dominant negative pathogenic variants in the COL1A1 and COL1A2 genes, which code for collagen type I 伪1 and 伪2 chains. Collagen-...
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a rare and heritable connective tissue disorder that has many faces, as it is genetically and phenotypically heterogenous. Historically, OI was considered to be an autosomal dominant disorder caused by a defect in type I collagen...
关键词: OSTEOGENESIS IMPERFECTA; BRUCK SYNDROME; FKBP10 (ALSO KNOWN AS FKBP65); BRITTLE BONE DISEASE; COLLAGEN; 年份: 2011 收藏 求助全文 通过文献互助平台发起求助,成功后即可免费获取论文全文 文献求助 相关文献 Mutations In Fkbp10 Cause Recessive Osteogenesis Imperfecta And Bruck Syndrome 期刊名:...
4 Previously, osteogenesis imperfecta was known as an autosomal dominant disorder caused by mutations in COL1A1 and COL1A2, coding for the α1(I) and α2(I) chains of type I collagen, the most abundant protein of bone, skin, and tendon extracellular matrices. Although about 85–90% of ...
This study aims to analyze the medical-seeking behavior of Osteogenesis Imperfecta(OI) children in Southwest China, summarize and analyze the issues in their medical process, and propose corresponding improvement strategies. A phenomenological study invo