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Dataset results
79 results for “Osteogenesis imperfecta”
Repeated Infusions of Mesenchymal Stromal Cells in Children With Osteogenesis Imperfecta
ClinicalTrials.gov study NCT01061099. IPD Sharing: Not stated. Countries: 1. Publications: 3.
Effect of High-Dose Vitamin D on Bone Density in Osteogenesis Imperfecta
ClinicalTrials.gov study NCT01713231. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Translational Therapy in Patients With Osteogenesis Imperfecta - A Pilot Trial on Treatment With the Rankl-Antibody Denosumab
ClinicalTrials.gov study NCT01799798. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Registry of Osteogenesis Imperfecta
ClinicalTrials.gov study NCT04115774. IPD Sharing: Not stated. Countries: 1. Publications: 14.
Tranexamic Acid During Telescoping Nail Application In Osteogenesis Imperfecta
ClinicalTrials.gov study NCT05321199. IPD Sharing: Not stated. Countries: 1. Publications: 10.
Epigenetic Regulation of Osteogenesis Imperfecta Severity : miROI Study
ClinicalTrials.gov study NCT04009733. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Evaluation of the Benefits of Adaptive Physical Activity in Children and Adolescents With Osteogenesis Imperfecta
ClinicalTrials.gov study NCT04119388. IPD Sharing: UNDECIDED. Countries: 1. Publications: 1.
Marrow Mesenchymal Cell Therapy for Osteogenesis Imperfecta: A Pilot Study
ClinicalTrials.gov study NCT00187018. IPD Sharing: Not stated. Countries: 1. Publications: 1.
Safety, Pharmacokinetics and Pharmacodynamics of BPS804 in Osteogenesis Imperfecta
ClinicalTrials.gov study NCT01417091. IPD Sharing: Not stated. Countries: 4. Publications: 1.
Data from: Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - a retrospective cohort study
Osteogenesis imperfecta (OI) is a heterogeneous group of disorders of connective tissue, caused mainly by mutations in the collagen I genes (COL1A1 and COL1A2). Dentinogenesis imperfecta (DGI) and other dental aberrations are common features of OI. We investigated the association between collagen I mutations and DGI, taurodontism, and retention of permanent second molars in a retrospective cohort of 152 unrelated children and adolescents with OI. The clinical examination included radiographic evaluations. Teeth from 81 individuals were available for histopathological evaluation. COL1A1/2 mutations were found in 104 individuals by nucleotide sequencing. DGI was diagnosed clinically and radiographically in 29% of the individuals (44/152) and through isolated histological findings in another 19% (29/152). In the individuals with a COL1A1 mutation, 70% (7/10) of those with a glycine substitution located C-terminal of p.Gly305 exhibited DGI in both dentitions while no individual (0/7) with a mutation N-terminal of this point exhibited DGI in either dentition (p = 0.01). In the individuals with a COL1A2 mutation, 80% (8/10) of those with a glycine substitution located C terminal of p.Gly211 exhibited DGI in both dentitions while no individual (0/5) with a mutation N-terminal of this point (p = 0.007) exhibited DGI in either dentition. DGI was restricted to the deciduous dentition in 20 individuals. Seventeen had missense mutations where glycine to serine was the most prevalent substitution (53%). Taurodontism occurred in 18% and retention of permanent second molars in 31% of the adolescents. Dental aberrations are strongly associated with qualitatively changed collagen I. The varying expressivity of DGI is related to the location of the collagen I mutation. Genotype information may be helpful in identifying individuals with OI who have an increased risk of dental aberrations.
Proteomics Data for "Adult human cardiomyocyte mechanics in osteogenesis imperfecta"
<p>Proteomics Data for "Adult human cardiomyocyte mechanics in osteogenesis imperfecta"</p>
Long-term Extension Study of Setrusumab in Adults With Type I, III, or IV Osteogenesis Imperfecta
ClinicalTrials.gov study NCT05312697. IPD Sharing: NO. Countries: 1. Publications: 0.
Open-label Extension of Study 20130173 of Denosumab in Children and Young Adults With Osteogenesis Imperfecta
ClinicalTrials.gov study NCT03638128. IPD Sharing: YES. Countries: 12. Publications: 0.
Single Ascending Dose Study of SAR439459 in Adults With Osteogenesis Imperfecta (OI)
ClinicalTrials.gov study NCT05231668. IPD Sharing: YES. Countries: 4. Publications: 0.
Data from: Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - a retrospective cohort study
Open the record for dataset details and reuse information.
The osteocyte transcriptome is extensively dysregulated in mouse models of Osteogenesis Imperfecta
GEO Series GSE154748. Mus musculus. 12 samples. Type: Expression profiling by high throughput sequencing.
Multi-Omic analyses reveal aberrant differentiation trajectory with WNT1 Loss-of-Function in type XV osteogenesis imperfecta
GEO Series GSE262091. Homo sapiens. 2 samples. Type: Expression profiling by high throughput sequencing.
RNA Sequencing Analysis of a Whole Blood Transcriptome in Estonian Families with Osteogenesis Imperfecta
GEO Series GSE160207. Homo sapiens. 12 samples. Type: Expression profiling by high throughput sequencing.
Homozygosity mapping in a consanguineous family with osteogenesis imperfecta (OI)
GEO Series GSE21958. Homo sapiens. 2 samples. Type: SNP genotyping by SNP array; Genome variation profiling by SNP array.
Setrusumab in Pediatric Japanese Subjects With Osteogenesis Imperfecta
ClinicalTrials.gov study NCT06636071. IPD Sharing: NO. Countries: 1. Publications: 0.
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Allen Brain Atlas
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Annotated Behaviour and Observability Dataset (ABODe)
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DANDI Archive for NWB datasets
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The International Brain Laboratory public data releases expose standardized mouse decision-making experiments, including Neuropixels recordings, widefield calcium imaging, behavior, and session metadata accessed through the ONE API.
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