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Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2017, Volume 32, Issue 9, pp. 1884 - 1892
In co ntrast to "classical" forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function... 
OSTEOGENESIS IMPERFECTA TYPE V | QUANTITATIVE BACKSCATTERED ELECTRON IMAGING | MATRIX MINERALIZATION | BISPHOSPHONATE TREATMENT | OSTEOCYTE LACUNAE | PAMIDRONATE | GENOTYPE | COLLAGEN MUTATIONS | PHENOTYPIC VARIABILITY | MINERALIZATION DENSITY | HYPERPLASTIC CALLUS | CHILDREN | IFITM5 MUTATION | ADOLESCENTS | ENDOCRINOLOGY & METABOLISM | BIOPSIES | Calcinosis - genetics | Cancellous Bone - metabolism | Osteogenesis Imperfecta - metabolism | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Calcinosis - diagnostic imaging | Male | Bone Density - genetics | Cancellous Bone - diagnostic imaging | Collagen Type I - genetics | Female | Membrane Proteins - metabolism | Calcinosis - metabolism | Child | Osteogenesis - genetics | Calcinosis - drug therapy | Collagen Type I - metabolism | Osteocytes - metabolism | Membrane Proteins - genetics | Osteogenesis - drug effects | Osteogenesis Imperfecta - drug therapy | Osteogenesis Imperfecta - diagnostic imaging | Diphosphonates - administration & dosage | Cortical Bone - metabolism | Bone Density - drug effects | Adolescent | Osteocytes - pathology | Cortical Bone - diagnostic imaging | Osteogenesis imperfecta | Bones | Density | Callus | Collagen (type I) | Calcium | Bone remodelling | Bisphosphonates | Pamidronic acid | Polarized light | Ossification | Bone growth | Forearm | Computed tomography | Biopsy | Mineralization | Dentinogenesis | Dentinogenesis imperfecta | Bone density | Interferon | Children | Mutation | Bone imaging | Osteogenesis | Bone (cancellous) | Index Medicus | Matrix mineralization | Osteocyte lacunae | Osteogenesis imperfecta type V | Bisphosphonate treatment | quantitative Backscattered Electron Imaging
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 05/2016, Volume 31, Issue 5, pp. 1030 - 1040
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 06/2017, Volume 127, Issue 7, pp. 2678 - 2688
Mutations in WNT1 cause osteogenesis imperfecta (OI) and early-onset osteoporosis, identifying it as a key Wnt ligand in human bone homeostasis. However, how... 
OSTEOCLASTOGENESIS | MEDICINE, RESEARCH & EXPERIMENTAL | MOUSE MODEL | MASS | RECESSIVE OSTEOGENESIS IMPERFECTA | RECEPTOR-RELATED PROTEIN-5 | SKELETAL CHARACTERISTICS | MUTATIONS | DIFFERENTIATION | SCLEROSTIN ANTIBODY TREATMENT | BETA-CATENIN | Wnt1 Protein - genetics | Osteogenesis Imperfecta - metabolism | TOR Serine-Threonine Kinases - metabolism | Humans | Glycoproteins - metabolism | Homeostasis | Osteogenesis Imperfecta - genetics | Multiprotein Complexes - genetics | Osteoporosis - drug therapy | Wnt1 Protein - metabolism | Fractures, Bone - genetics | Mechanistic Target of Rapamycin Complex 1 | Multiprotein Complexes - metabolism | TOR Serine-Threonine Kinases - genetics | Osteoporosis - metabolism | Osteoporosis - genetics | Wnt Signaling Pathway | Glycoproteins - genetics | Osteocytes - metabolism | Glycoproteins - antagonists & inhibitors | Osteogenesis Imperfecta - drug therapy | Mice, Transgenic | Fractures, Bone - metabolism | Antibodies - pharmacology | Animals | Osteoporosis - pathology | Osteocytes - pathology | Osteogenesis Imperfecta - pathology | Fractures, Bone - pathology | Mice | Fractures, Bone - drug therapy | Osteoporosis | Analysis | Bones | Genetic aspects | Research | Health aspects | Density | Animal models | Wnt protein | Antibodies | Osteocytes | SOST protein | Bone turnover | Kinases | Proteins | Studies | Osteoclastogenesis | Genotype & phenotype | Bone growth | Bone mass | Fractures | Clonal deletion | Rodents | Osteogenesis imperfecta | Bone marrow | Ligands | Mutation | Age | Osteogenesis | Index Medicus | Abridged Index Medicus
Journal Article
Rheumatology, ISSN 1462-0324, 04/2018, Volume 57, Issue suppl_3
Journal Article
Rheumatology, ISSN 1462-0324, 04/2018, Volume 57, Issue suppl_3
Journal Article
Rheumatology, ISSN 1462-0324, 04/2018, Volume 57, Issue suppl_3
Journal Article
Osteoporosis International, ISSN 0937-941X, 8/2014, Volume 25, Issue 8, pp. 2097 - 2107
Treatments to reduce fracture rates in adults with osteogenesis imperfecta are limited. Sclerostin antibody, developed for treating osteoporosis, has not been... 
Osteoporosis | Sclerostin antibody | Medicine & Public Health | Orthopedics | Rheumatology | Osteogenesis imperfecta | Mouse model | Endocrinology | SKELETAL SITES | MARROW COMPOSITION | OVARIECTOMIZED RATS | ALENDRONATE | MINERAL DENSITY | TERIPARATIDE TREATMENT | REGARDLESS | ENDOCRINOLOGY & METABOLISM | PARATHYROID-HORMONE | FRACTURE RATE | DECREASED BONE | Isoenzymes - blood | Osteogenesis - physiology | Femur - pathology | Bone Density - physiology | Bone Morphogenetic Proteins - immunology | Tartrate-Resistant Acid Phosphatase | Stress, Mechanical | Male | X-Ray Microtomography | Osteocalcin - blood | Mice, Mutant Strains | Antibodies, Neutralizing - therapeutic use | Osteogenesis Imperfecta - physiopathology | Acid Phosphatase - blood | Disease Models, Animal | Body Mass Index | Drug Evaluation, Preclinical - methods | Anabolic Agents - therapeutic use | Osteogenesis - drug effects | Osteogenesis Imperfecta - drug therapy | Osteogenesis Imperfecta - blood | Femur - physiopathology | Genetic Markers - immunology | Bone Density - drug effects | Animals | Osteogenesis Imperfecta - pathology | Viral antibodies | Complications and side effects | Care and treatment | Fractures | Patient outcomes | Antibodies | Development and progression | Research | Risk factors | Therapy | Congenital diseases | Bone diseases | Rodents | Index Medicus | mouse model | osteoporosis | sclerostin antibody
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 01/2013, Volume 28, Issue 1, pp. 73 - 80
Osteogenesis imperfecta (OI) is a genetic bone dysplasia characterized by osteopenia and easy susceptibility to fracture. Symptoms are most prominent during... 
OSTEOGENESIS IMPERFECTA | SCLEROSTIN ANTIBODY | COLLAGEN | ANABOLIC THERAPY | BONE MASS | MICRODAMAGE ACCUMULATION | DOG RIB | STRENGTH | CHILDREN | BISPHOSPHONATES | BIOMECHANICAL PROPERTIES | GENE | GROWTH | ENDOCRINOLOGY & METABOLISM | SUPPRESSED BONE TURNOVER | MICE | Isoenzymes - blood | Femur - pathology | Fluoresceins - metabolism | Tartrate-Resistant Acid Phosphatase | Body Weight - drug effects | Male | Femur - diagnostic imaging | X-Ray Microtomography | Osteocalcin - blood | Mice, Mutant Strains | Biomechanical Phenomena - drug effects | Acid Phosphatase - blood | Disease Models, Animal | Antibodies - therapeutic use | Calcification, Physiologic - drug effects | Mice, Inbred C57BL | Osteogenesis - drug effects | Osteogenesis Imperfecta - drug therapy | Femur - drug effects | Osteogenesis Imperfecta - blood | Biomarkers - blood | Antibodies - pharmacology | Glycoproteins - immunology | Organ Size - drug effects | Animals | Osteogenesis Imperfecta - pathology | Mice | Nanotechnology | Viral antibodies | Fractures | Collagen | Analysis | Osteogenesis imperfecta | Antibodies | Bones | Disease susceptibility | Children | Health aspects | Density | Biomedical engineering | Index Medicus | Pediatrics | Animal models | Vertebrae | Mechanical properties | SOST protein | Bisphosphonates | Osteoblasts | Signal transduction | Bone mass | Mineralization | Skeleton | Mutation | Osteogenesis | Osteopenia | collagen | bone mass | Sclerostin antibody | anabolic therapy
Journal Article
2013, 1
Reference
Journal of Bone and Mineral Research, ISSN 0884-0431, 11/2016, Volume 31, Issue 11, pp. 1930 - 1942
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone... 
OSTEOGENESIS IMPERFECTA | PLOD2 | COLLAGEN | LYSYL HYDROXYLASE 2 | BRUCK SYNDROME | TOMOGRAPHY | PROTEIN | CROSS-LINKING | PHENOTYPE | IDENTIFICATION | BONE-COLLAGEN | SYNDROME-OSTEOGENESIS IMPERFECTA | ENDOCRINOLOGY & METABOLISM | MUTATIONS | SKIN | Bone and Bones - pathology | Conserved Sequence - genetics | Osteogenesis Imperfecta - metabolism | Musculoskeletal Abnormalities - complications | Musculoskeletal Abnormalities - pathology | X-Ray Microtomography | Arthrogryposis - diagnostic imaging | Peptides - metabolism | Bone and Bones - diagnostic imaging | Mass Spectrometry | Lysine - metabolism | Arthrogryposis - pathology | Amino Acid Sequence | Catalytic Domain | Collagen Type I - metabolism | Hydroxylation | Larva - metabolism | Musculoskeletal Abnormalities - diagnostic imaging | Arthrogryposis - complications | Osteogenesis Imperfecta - complications | Osteogenesis Imperfecta - diagnostic imaging | Cross-Linking Reagents - metabolism | Phenotype | Animals | Musculoskeletal Abnormalities - metabolism | Calcification, Physiologic | Zebrafish - metabolism | Arthrogryposis - metabolism | Osteogenesis Imperfecta - pathology | Notochord - pathology | Zebrafish Proteins - genetics | Bone and Bones - abnormalities | Codon, Nonsense - genetics | Evolution, Molecular | Enzymes | Dysplasia | Crosslinked polymers | Lysine | Analysis | Collagen | Abnormalities | Bones | Index Medicus
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 10/2015, Volume 30, Issue 10, pp. 1874 - 1886
Journal Article