Associated Papers
RING-Box E3 Ligase Target N-Terminal Lysine 55 to Regulate Turnover of Sp7 Protein.
Sikandar A et al.
Journal of Cellular Biochemistry, 2025
Osteoclast-independent osteocyte dendrite defects in mice bearing the osteogenesis imperfecta-causing Sp7 R342C mutation.
Wang JS et al.
Bone Research, 2025
Update on the Genetics of Osteogenesis Imperfecta.
Jovanovic M et al.
Calcified Tissue International, 2024
A homozygous SP7/OSX mutation causes osteogenesis and dentinogenesis imperfecta with craniofacial anomalies.
Al-Mutairi DA et al.
Jbmr Plus, 2024
Long-term follow-up of severe autosomal recessive SP7-related bone disorder.
Gauthier LW et al.
Bone, 2024
The bone transcription factor Osterix controls extracellular matrix- and node of Ranvier-related gene expression in oligodendrocytes.
Elbaz B et al.
Neuron, 2024
Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.
Tooze RS et al.
Genes, 2023
36980886 (PubMed )
Supplement: genes-14-00615-s001.zip › Supplementary_Information.pdf
A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder.
Lui JC et al.
Nature Communications, 2022
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7).
Whyte MP et al.
Bone, 2020
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