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
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
New gene discoveries in skeletal diseases with short stature.
Costantini A et al.
Endocrine Connections, 2021
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2.
Pekkinen M et al.
Jci Insight, 2019
Select a paper to view details