ArticleBone2020
Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.
Article in Bone, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Genetics versus environment in the pathophysiology of sagittal synostosis.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Pooled it
- Branch site mutated mice revealed distinct roles of two Runx2 isoforms in bone development.Frontiers in cell and developmental biology · 2026Article
- Endoscopic Strip Craniectomy for the Treatment of Single Suture Craniosynostosis.Advances and technical standards in neurosurgery · 2025Review
- Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.Journal of anatomy · 2024Article
- Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.Nature communications · 2023Review
- Functional consequences of C-terminal mutations in RUNX2.Scientific reports · 2023Article
- Evolutionary mechanisms modulating the mammalian skull development.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2023Review
- Article
- The transcription factor RUNX2 drives the generation of human NK cells and promotes tissue residency.eLife · 2022Article
- A dysmorphic mouse model reveals developmental interactions of chondrocranium and dermatocranium.eLife · 2022Article
- Shaping modern human skull through epigenetic, transcriptional and post-transcriptional regulation of the RUNX2 master bone gene.Scientific reports · 2021Article
- Case Report and Review of the Literature: Congenital Diaphragmatic Hernia and Craniosynostosis, a Coincidence or Common Cause?Frontiers in pediatrics · 2021Article
- Genetic background dependent modifiers of craniosynostosis severity.Journal of structural biology · 2020Article
- GLI1 and AXIN2 Are Distinctive Markers of Human Calvarial Mesenchymal Stromal Cells in Nonsyndromic Craniosynostosis.International journal of molecular sciences · 2020Article
Corrections and comments
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Authors and funding
14 authors at 8 institutions in 2 countries.
Funding
Abstract
Craniosynostosis (CS), the premature fusion of one or more cranial sutures, is a relatively common congenital anomaly, occurring in 3-5 per 10,000 live births. Nonsyndromic CS (NCS) accounts for up to 80% of all CS cases, yet the genetic factors contributing to the disorder remain largely unknown. The RUNX2 gene, encoding a transcription factor critical for bone and skull development, is a well known CS candidate gene, as copy number variations of this gene locus have been found in patients with syndromic craniosynostosis. In the present study, we aimed to characterize RUNX2 to better understand its role in the genetic etiology and in the molecular mechanisms underlying midline suture ossification in NCS. We report four nonsynonymous variants, one intronic variant and one 18 bp in-frame deletion in RUNX2 not found in our study control population. Significant difference in allele frequency (AF) for the deletion variant RUNX2 p.Ala84-Ala89del (ClinVar 257,095; dbSNP rs11498192) was observed in our sagittal NCS cohort when compared to the general population (P = 1.28 × 10
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.