Associated Papers
Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.
Cotti S et al.
Clinical Science (london, England : 1979), 2025
Novel pathogenic variants in SPARC as cause of osteogenesis imperfecta: Two case reports.
Storoni S et al.
European Journal of Medical Genetics, 2023
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
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
Biallelic variants in four genes underlying recessive osteogenesis imperfecta.
Hayat A et al.
European Journal of Medical Genetics, 2020
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
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