ArticleChild's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery2012
Phenotype profile of a genetic mouse model for Muenke syndrome.
Article in Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 22 citations in OpenAlex.
- Fgfr3-Wnt signaling crosstalk is involved in maintaining cranial suture integrity.Bone research · 2026Article
- Mystery of the Muenke midface: spheno-occipital synchondrosis fusion and craniofacial skeletal patterns.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Article
- Cranium growth, patterning and homeostasis.Development (Cambridge, England) · 2022Article
- Quantitative Craniofacial Analysis and Generation of Human Induced Pluripotent Stem Cells for Muenke Syndrome: A Case Report.Journal of developmental biology · 2021Article
- Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.Journal of developmental biology · 2020Review
- Article
- ADAMTS9 and ADAMTS20 are differentially affected by loss of B3GLCT in mouse model of Peters plus syndrome.Human molecular genetics · 2019Article
- Choanal Atresia and Craniosynostosis: Development and Disease.Plastic and reconstructive surgery · 2018Review
- Matrix Gla protein deficiency impairs nasal septum growth, causing midface hypoplasia.The Journal of biological chemistry · 2017Article
- Achondroplasia: Development, pathogenesis, and therapy.Developmental dynamics : an official publication of the American Association of Anatomists · 2017Review
- Effects of thyroxine exposure on the Twist 1 +/- phenotype: A test of gene-environment interaction modeling for craniosynostosis.Birth defects research. Part A, Clinical and molecular teratology · 2016Article
- Understanding craniosynostosis as a growth disorder.Wiley interdisciplinary reviews. Developmental biology · 2016Review
- Postnatal Ontogeny of the Cranial Base and Craniofacial Skeleton in Male C57BL/6J Mice: A Reference Standard for Quantitative Analysis.Frontiers in physiology · 2015Article
- Molecular basis of cranial suture biology and disease: Osteoblastic and osteoclastic perspectives.Genes & diseases · 2014Article
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
purposeThe Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation. Muenke syndrome is characterized by coronal suture synostosis, midface hypoplasia, subtle limb anomalies, and hearing loss. However, the spectrum of clinical presentation continues to expand. To better understand the pathophysiology of the Muenke syndrome, we present collective findings from several recent studies that have characterized a genetically equivalent mouse model for Muenke syndrome (FgfR3 (P244R)) and compare them with human phenotypes.
conclusionsFgfR3 (P244R) mutant mice show premature fusion of facial sutures, premaxillary and/or zygomatic sutures, but rarely the coronal suture. The mice also lack the typical limb phenotype. On the other hand, the mutant mice display maxillary retrusion in association with a shortening of the anterior cranial base and a premature closure of intersphenoidal and spheno-occipital synchondroses, resembling human midface hypoplasia. In addition, sensorineural hearing loss is detected in all FgfR3 (P244R) mutant mice as in the majority of Muenke syndrome patients. It is caused by a defect in the mechanism of cell fate determination in the organ of Corti. The mice also express phenotypes that have not been previously described in humans, such as reduced cortical bone thickness, hypoplastic trabecular bone, and defective temporomandibular joint structure. Therefore, the FgfR3 (P244R) mouse provides an excellent opportunity to study disease mechanisms of some classical phenotypes of Muenke syndrome and to test novel therapeutic strategies. The mouse model can also be further explored to discover previously unreported yet potentially significant phenotypes of Muenke 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.