ArticleBMC developmental biology2010
Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2(+P253R) mice.
Article in BMC developmental biology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03025763 (Craniosynostosis Network), which is not on this map. Cited by 58 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Craniosynostosis Network
Who cites it
58 citing papers in PubMed, 81 citations in OpenAlex.
- Quantification of facial skeletal shape variation in fibroblast growth factor receptor-related craniosynostosis syndromes.Birth defects research. Part A, Clinical and molecular teratology · 2014Trial
- Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variant.Journal of human genetics · 2026Article
- P38α MAPK-induced senescence in cranial suture progenitor cells promotes craniosynostosis.Communications biology · 2025Article
- Differential regulation of coronal and lambdoid suture patency by PTHLH and HHIP activity in mice.Development (Cambridge, England) · 2025Article
- 3D imaging reveals changes in the neurovascular architecture of the murine calvarium with aging.Bone research · 2025Article
- From FGFR2 mutations to precision management: a review of prenatal diagnosis and multidisciplinary interventions in apert syndrome.Frontiers in pediatrics · 2025Review
- Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruption.Nature communications · 2024Article
- FGF signaling in cranial suture development and related diseases.Frontiers in cell and developmental biology · 2023Review
- A novel pathogenic variant ofFrontiers in pediatrics · 2023Article
- Article
- Cleft Palate in Apert Syndrome.Journal of developmental biology · 2022Review
- Single-cell analysis identifies a key role for Hhip in murine coronal suture development.Nature communications · 2021Article
- p38-MAPK-mediated translation regulation during early blastocyst development is required for primitive endoderm differentiation in mice.Communications biology · 2021Article
- Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.The Laryngoscope · 2021Article
- BMPR1A maintains skeletal stem cell properties in craniofacial development and craniosynostosis.Science translational medicine · 2021Article
- 2b or Not 2b: How Opposing FGF Receptor Splice Variants Are Blocking Progress in Precision Oncology.Journal of oncology · 2021Review
- Article
- Integrated Transcriptome and Network Analysis Reveals Spatiotemporal Dynamics of Calvarial Suturogenesis.Cell reports · 2020Article
- Mandibular dysmorphology due to abnormal embryonic osteogenesis in FGFR2-related craniosynostosis mice.Disease models & mechanisms · 2019Article
- Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.Developmental dynamics : an official publication of the American Association of Anatomists · 2019Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
backgroundApert syndrome is characterized by craniosynostosis and limb abnormalities and is primarily caused by FGFR2 +/P253R and +/S252W mutations. The former mutation is present in approximately one third whereas the latter mutation is present in two-thirds of the patients with this condition. We previously reported an inbred transgenic mouse model with the Fgfr2 +/S252W mutation on the C57BL/6J background for Apert syndrome. Here we present a mouse model for the Fgfr2+/P253R mutation.
resultsWe generated inbred Fgfr2(+/P253R) mice on the same C56BL/6J genetic background and analyzed their skeletal abnormalities. 3D micro-CT scans of the skulls of the Fgfr2(+/P253R) mice revealed that the skull length was shortened with the length of the anterior cranial base significantly shorter than that of the Fgfr2(+/S252W) mice at P0. The Fgfr2(+/P253R) mice presented with synostosis of the coronal suture and proximate fronts with disorganized cellularity in sagittal and lambdoid sutures. Abnormal osteogenesis and proliferation were observed at the developing coronal suture and long bones of the Fgfr2(+/P253R) mice as in the Fgfr2(+/S252W) mice. Activation of mitogen-activated protein kinases (MAPK) was observed in the Fgfr2(+/P253R) neurocranium with an increase in phosphorylated p38 as well as ERK1/2, whereas phosphorylated AKT and PKCalpha were not obviously changed as compared to those of wild-type controls. There were localized phenotypic and molecular variations among individual embryos with different mutations and among those with the same mutation.
conclusionsOur in vivo studies demonstrated that the Fgfr2 +/P253R mutation resulted in mice with cranial features that resemble those of the Fgfr2(+/S252W) mice and human Apert syndrome. Activated p38 in addition to the ERK1/2 signaling pathways may mediate the mutant neurocranial phenotype. Though Apert syndrome is traditionally thought to be a consistent phenotype, our results suggest localized and regional variations in the phenotypes that characterize Apert syndrome.
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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.