ArticleJournal of advanced research2024
Loss of Sc5d results in micrognathia due to a failure in osteoblast differentiation.
Article in Journal of advanced research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Craniofacial development: genetics, signaling pathways, teratogenic mechanisms, and clinal significance.Molecular biomedicine · 2026Review
- Long non-coding RNA antisense of insulin-like growth factor 2 receptor promotes osteogenic differentiation by enhancing runt-related transcription factor 2 translation: A potential therapeutic target for osteoporosis.Journal of advanced research · 2026Article
- Ciliary-Mediated Mechanotransduction in Skeletal Development and Diseases.Results and problems in cell differentiation · 2026Review
- [Research Progress on the Role and Regulatory Mechanisms of Lipid Metabolism in the Osteogenic/Odontogenic Differentiation of Dental Stem Cells].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Review
- NPC1L1 Drives Osteoporosis by Activating the C/EBPα/Cyp27a1/27-Hydroxycholesterol Axis: A Novel Therapeutic Target for Bone Loss.FASEB bioAdvances · 2025Article
- Metabolic Rewiring and Post-Translational Modifications: Unlocking the Mechanisms of Bone Turnover in Osteoporosis.Aging and disease · 2025Review
- Melatonin alleviates high temperature exposure induced fetal growth restriction via the gut-placenta-fetus axis in pregnant mice.Journal of advanced research · 2025Article
- Craniofacial bone anomalies related to cholesterol synthesis defects.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
introductionMutations in genes related to cholesterol metabolism, or maternal diet and health status, affect craniofacial bone formation. However, the precise role of intracellular cholesterol metabolism in craniofacial bone development remains unclear.
objectiveThe aim of this study is to determine how cholesterol metabolism aberrations affect craniofacial bone development.
methodsMice with a deficiency in Sc5d, which encodes an enzyme involved in cholesterol synthesis, were analyzed with histology, micro computed tomography (microCT), and cellular and molecular biological methods.
resultsSc5d null mice exhibited mandible hypoplasia resulting from defects in osteoblast differentiation. The activation of the hedgehog and WNT/β-catenin signaling pathways, which induce expression of osteogenic genes Col1a1 and Spp1, was compromised in the mandible of Sc5d null mice due to a failure in the formation of the primary cilium, a cell surface structure that senses extracellular cues. Treatments with an inducer of hedgehog or WNT/β-catenin signaling or with simvastatin, a drug that restores abnormal cholesterol production, partially rescued the defects in osteoblast differentiation seen in Sc5d mutant cells.
conclusionOur results indicate that loss of Sc5d results in mandibular hypoplasia through defective primary cilia-mediated hedgehog and WNT/β-catenin signaling pathways.
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