More than 90% of people who have osteogenesis imperfecta (OI) have heterozygous
mutations in one of the two type I collagen genes, COL1A1 and COL1A2. The effects of these …

… osteogenesis imperfecta as a collagen-related disorder. The more prevalent autosomal
dominant forms of osteogenesis imperfecta … , whereas autosomal recessive forms are caused by …

… The collagen prolyl 3-hydroxylation complex opened the floodgate to understanding rare
forms of osteogenesis imperfecta. P3H1, the enzyme that causes 3-hydroxylation of α1(I)…

… The most important therapeutic advance is the introduction of bisphosphonate treatment
for moderate to severe forms of osteogenesis imperfecta. However, at present, the best …

… Indeed, the newer forms of osteogenesis imperfecta (types V, VI … in all the classical forms
of osteogenesis imperfecta (types I-… Treatment of osteogenesis imperfecta by bisphosphonate …

… The severity of OI ranges from mild forms with no deformity, near normal stature, and few
fractures to forms that are lethal in the perinatal period. In this form of OI, newborns do not …

… the formation of interchain salt bridges that form between positively charged Y-position lysyl
… in the glycosylation of some hydroxylysines to form galactosyl–hydroxylysine and glucosyl–…

… Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc. Natl.
… Abnormal ce-2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. …

… OI type II is a perinatal lethal form. OI type III is severe and causes progressive deformity. OI
… Osteogenesis imperfecta (OI) is a heritable disorder of connective tissue resulting from an …

… a continuum ranging from perinatal lethal forms with crumpled bones to moderate forms
with deformity and propensity to fracture to clinically silent forms with subtle osteopenia and no …