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ProteomicsMulti-Omic analyses reveal aberrant differentiation trajectory with WNT1 Loss-of-Function in type XV osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a serious genetic bone disorder characterized by congenital low bone mass, deformity and frequent fractures. Type XV OI is a moderate to severe form of skeletal dysplasia caused by WNT1 mutations. In this cohort study from southern China, we summarized the clinical ph...
ORGANISM(S): Homo sapiens (Human) 
2024-10-17 | PXD050841 | Pride
Human Bone Osteogenesis imperfecta 
ProteomicsProteomic alterations in patient-derived mesenchymal stem cells and their secretomes in osteogenesis imperfecta
Type I collagen is the most abundant form of collagen and forms the organic component of bone. Pathogenic variants in genes encoding its constituent polypeptide chains, COL1A1 and COL1A2, result in autosomal dominant osteogenesis imperfecta. Although osteogenesis imperfecta is clinically well-descri...
ORGANISM(S): Homo sapiens (Human) 
2026-09-07 | PXD071068 | Pride
Genetic disorder Cell lines Collagen Human 
UnknownA multicenter study to evaluate pulmonary function in osteogenesis imperfecta.
Not available
S-EPMC6235719 | biostudies-literature
GenomicsOsteogenesis imperfecta in Holstein cattle
Osteogenesis imperfecta in an embryo transfer Holstein calf
PRJEB34325 | ENA
GenomicsOsteogenesis imperfecta
Sequencing of a Fleckvieh animal for dominant Osteogensis imperfecta
PRJEB12324 | ENA
UnknownA Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta.
Not available
S-EPMC6524673 | biostudies-literature
UnknownA Baseline Measurement of Quality of Life in 322 Adults With Osteogenesis Imperfecta.
Not available
S-EPMC7745883 | biostudies-literature
ProteomicsMultistep analysis of type I collagen synthesis and the effects of 4-phenylbutyric acid in patients with osteogenesis imperfecta-derived cells
We performed shotgun proteomic analysis of human type I collagen purified from the culture medium of normal or osteogenesis imperfecta fibroblasts by LC-MS after trypsin digestion for identification of lysine glycosylation sites.
ORGANISM(S): Homo Sapiens (human) 
2021-02-05 | PXD021411 | JPOST Repository
UnknownThe IMPACT Survey: the humanistic impact of osteogenesis imperfecta in adults.
Not available
S-EPMC11605868 | biostudies-literature
UnknownThe IMPACT Survey: The Economic Impact of Caring for an Individual with Osteogenesis Imperfecta.
Not available
S-EPMC12579707 | biostudies-literature
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