Associated Papers
Utilizing CRISPR-Cas13d-knockdown in zebrafish to study a rare monogenic bone fragility syndrome.
Määttä K et al.
Jbmr Plus, 2025
Transcriptomic and lipidomic profiling provide novel insight into the pathogenesis of monogenic SGMS2-related osteoporosis.
Pihlström S et al.
Jbmr Plus, 2025
A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.
Patra S et al.
Bone Reports, 2025
Human genetic defects of sphingolipid synthesis.
Dubot P et al.
Journal of Inherited Metabolic Disease, 2025
Bone fragility and osteoporosis in children and young adults.
Formosa MM et al.
Journal of Endocrinological Investigation, 2024
Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant.
Merkuryeva E et al.
International Journal of Molecular Sciences, 2023
SGMS2 in primary osteoporosis with facial nerve palsy.
Pihlström S et al.
Frontiers in Endocrinology, 2023
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway.
Sokoya T et al.
Elife, 2022
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Mäkitie RE et al.
Calcified Tissue International, 2021
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature.
Basalom S et al.
Bone Reports, 2021
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations.
Mäkitie RE et al.
Jbmr Plus, 2021
New gene discoveries in skeletal diseases with short stature.
Costantini A et al.
Endocrine Connections, 2021
Musculoskeletal phenotype in two unrelated individuals with a recurrent nonsense variant in SGMS2.
Robinson ME et al.
Bone, 2020
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M et al.
Jci Insight, 2019
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