Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
November 30, 2025Journal of Bone and Mineral Research

Inactivating GNAS variants impair GPCR signaling and cause multiple suture craniosynostosis in humans and zebrafish

View Full Paper
Ask AI
Bookmark
Share

Authors

QYQing YanWZWei ZhouHLHan Li

Discussion

Loading...

Member takes

Overview

Functional analysis shows GNAS variants impair osteoblast differentiation in craniosynostosis, indicating a novel disease mechanism involving human mesenchymal stem cells.

Key Points

  • Craniosynostosis observed in individuals with inactivating GNAS variants, impacting craniofacial morphogenesis and growth.
  • Variants caused impaired G protein assembly, reducing agonist-induced cAMP production, leading to abnormal osteoblast differentiation.
  • Observational analysis in zebrafish models replicated human features, confirming the connection between GNAS inactivation and craniosynostosis.
  • Understanding GNAS's role may enable novel interventions for craniosynostosis, impacting clinical management strategies.

Cite This Study

Yan et al. (2025) studied this question.

synapsesocial.com/papers/692b9d8d1d383f2b2a379a60https://doi.org/10.1093/jbmr/zjaf181
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Six cases of ectopic cutaneous ossification associated with GNAS gene variants2025
  2. 2Novel Biallelic <i>TGFBR3</i> Mutation in Brothers Presenting With Craniosynostosis2025
  3. 3Abstract Wed103: A Novel Variant in <i>GNB2</i> as a Cause of Sick Sinus Syndrome2025
  4. 4Mouse Gnal transcripts and transcriptomics in isolated dystonia2025
  5. 5Functional classification of <i>GNAI1</i> disorder variants in <i>C. elegans</i> uncovers conserved and cell-specific mechanisms of dysfunction2025