Associated Papers
Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.
Cotti S et al.
Clinical Science (london, England : 1979), 2025
Expanding the phenotype of SPARC-related osteogenesis imperfecta: clinical findings in two patients with pathogenic variants in SPARC and literature review.
Durkin A et al.
Journal of Medical Genetics, 2022
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.
Kaur S et al.
Journal of Cell Communication and Signaling, 2021
Load-induced regulation of tendon homeostasis by SPARC, a genetic predisposition factor for tendon and ligament injuries.
Wang T et al.
Science Translational Medicine, 2021
Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.
Besio R et al.
The Febs Journal, 2019
Osteogenesis imperfecta: new genes reveal novel mechanisms in bone dysplasia.
Kang H et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2017
Recessive osteogenesis imperfecta caused by missense mutations in SPARC.
Mendoza-Londono R et al.
American Journal of Human Genetics, 2015
Does the Skeletal Phenotype of Osteogenesis Imperfecta Differ for Patients With Non-COL1A1/2 Mutations? A Retrospective Study in 113 Patients.
Zerfu T et al.
Journal of Pediatric Orthopedics, 0
Select a paper to view details