Osteogenesis imperfecta: mechanisms and signaling pathways connecting classical and rare OI types
Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …
Osteogenesis imperfecta
JC Marini, WA Cabral - Genetics of bone biology and skeletal disease, 2018 - Elsevier
Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …
Excessive transforming growth factor-β signaling is a common mechanism in osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a heritable disorder, in both a dominant and recessive
manner, of connective tissue characterized by brittle bones, fractures and extraskeletal …
manner, of connective tissue characterized by brittle bones, fractures and extraskeletal …
[HTML][HTML] Collagen transport and related pathways in Osteogenesis Imperfecta
L Claeys, S Storoni, M Eekhoff, M Elting, L Wisse… - Human genetics, 2021 - Springer
Osteogenesis Imperfecta (OI) comprises a heterogeneous group of patients who share bone
fragility and deformities as the main characteristics, albeit with different degrees of severity …
fragility and deformities as the main characteristics, albeit with different degrees of severity …
Molecular insights into prolyl and lysyl hydroxylation of fibrillar collagens in health and disease
RAF Gjaltema, RA Bank - Critical reviews in biochemistry and …, 2017 - Taylor & Francis
Collagen is a macromolecule that has versatile roles in physiology, ranging from structural
support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α …
support to mediating cell signaling. Formation of mature collagen fibrils out of procollagen α …
Genetic causes and mechanisms of osteogenesis imperfecta
Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features
including bone deformities, low bone mass, brittle bones, and connective tissue …
including bone deformities, low bone mass, brittle bones, and connective tissue …
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia
Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by fragile bones and
short stature and known for its clinical and genetic heterogeneity which is now understood …
short stature and known for its clinical and genetic heterogeneity which is now understood …
Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate
R Besio, N Garibaldi, L Leoni… - Disease models & …, 2019 - journals.biologists.com
Osteogenesis imperfecta (OI) types VII, VIII and IX, caused by recessive mutations in
cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B …
cartilage-associated protein (CRTAP), prolyl-3-hydroxylase 1 (P3H1) and cyclophilin B …
[HTML][HTML] Exploring the cardiac ECM during fibrosis: A new era with next-gen proteomics
Extracellular matrix (ECM) plays a critical role in maintaining elasticity in cardiac tissues.
Elasticity is required in the heart for properly pumping blood to the whole body …
Elasticity is required in the heart for properly pumping blood to the whole body …
Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype
F Tonelli, S Cotti, L Leoni, R Besio, R Gioia… - Matrix Biology, 2020 - Elsevier
Prolyl 3-hydroxylation is a rare collagen type I post translational modification in fibrillar
collagens. The primary 3Hyp substrate sites in type I collagen are targeted by an …
collagens. The primary 3Hyp substrate sites in type I collagen are targeted by an …