Associated Papers
Osteogenesis Imperfecta: A Look into the Cerebellum of the Brtl Murine Model.
De Luca F et al.
Molecular Neurobiology, 2025
A novel chemical chaperone ameliorates osteoblast homeostasis and extracellular matrix in osteogenesis imperfecta.
Garibaldi N et al.
Life Sciences, 2025
Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.
Crawford TK et al.
Calcified Tissue International, 2024
Update on the Genetics of Osteogenesis Imperfecta.
Jovanovic M et al.
Calcified Tissue International, 2024
Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.
Misof BM et al.
Calcified Tissue International, 2024
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.
Iyer GR et al.
Journal of Orthopaedic Surgery and Research, 2022
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure.
Ballenger KL et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Intracellular and Extracellular Markers of Lethality in Osteogenesis Imperfecta: A Quantitative Proteomic Approach.
Bini L et al.
International Journal of Molecular Sciences, 2021
Two sides of the same medal: Noncoding mutations reveal new pathological mechanisms and insights into the regulation of gene expression.
Wachs AS et al.
Wiley Interdisciplinary Reviews. Rna, 2021
Signaling pathways affected by mutations causing osteogenesis imperfecta.
Etich J et al.
Cellular Signalling, 2020
Osteoblasts mineralization and collagen matrix are conserved upon specific Col1a2 silencing.
Maruelli S et al.
Matrix Biology Plus, 2020
Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research.
Tauer JT et al.
Jbmr Plus, 2019
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta.
Gioia R et al.
Human Molecular Genetics, 2017
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta.
Jacobsen CM et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach.
Bianchi L et al.
Journal of Proteomics, 2012
Increased susceptibility to microdamage in Brtl/+ mouse model for osteogenesis imperfecta.
Davis MS et al.
Bone, 2012
New perspectives on osteogenesis imperfecta.
Forlino A et al.
Nature Reviews. Endocrinology, 2011
The unfolded protein response and its relevance to connective tissue diseases.
Boot-Handford RP et al.
Cell and Tissue Research, 2010
In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta.
Panaroni C et al.
Blood, 2009
Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI.
Forlino A et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2007
Differential expression of both extracellular and intracellular proteins is involved in the lethal or nonlethal phenotypic variation of BrtlIV, a murine model for osteogenesis imperfecta.
Forlino A et al.
Proteomics, 2007
Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen.
Sarafova AP et al.
Human Mutation, 1998