ArticleProceedings of the National Academy of Sciences of the United States of America1996
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 147 citations in OpenAlex.
- Functional Characterization of Variants of Unknown Significance of Fibroblast Growth Factor Receptors 1-4 and Comparison With AI Model-Based Prediction.JCO precision oncology · 2025Article
- Targeting Aberrant FGFR Signaling to Overcome CDK4/6 Inhibitor Resistance in Breast Cancer.Cells · 2021Review
- Oncogenic fusion protein FGFR2-PPHLN1: Requirements for biological activation, and efficacy of inhibitors.Translational oncology · 2020Article
- Genetic background dependent modifiers of craniosynostosis severity.Journal of structural biology · 2020Article
- Cranial Neural Crest Cells and Their Role in the Pathogenesis of Craniofacial Anomalies and Coronal Craniosynostosis.Journal of developmental biology · 2020Review
- Article
- Developmental and Evolutionary Significance of the Zygomatic Bone.Anatomical record (Hoboken, N.J. : 2007) · 2016Article
- Clues from Crouzon: Insights into the potential role of growth factors in the pathogenesis of myelinated retinal nerve fibers.Journal of current ophthalmology · 2016Article
- Understanding craniosynostosis as a growth disorder.Wiley interdisciplinary reviews. Developmental biology · 2016Review
- FGFR2 mutation in 46,XY sex reversal with craniosynostosis.Human molecular genetics · 2015Article
- Unliganded EphA3 dimerization promoted by the SAM domain.The Biochemical journal · 2015Article
- Characterization of membrane protein interactions in plasma membrane derived vesicles with quantitative imaging Förster resonance energy transfer.Accounts of chemical research · 2015Article
- A point mutation in the extracellular domain of KIT promotes tumorigenesis of mast cells via ligand-independent auto-dimerization.Scientific reports · 2015Article
- From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models.Current topics in developmental biology · 2015Review
- Article
- Beyond GWASs: illuminating the dark road from association to function.American journal of human genetics · 2013Review
- The Fgfr2 W290R mouse model of Crouzon syndrome.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2012Article
- TACE activation by MAPK-mediated regulation of cell surface dimerization and TIMP3 association.Science signaling · 2012Article
- Physical-chemical principles underlying RTK activation, and their implications for human disease.Biochimica et biophysica acta · 2012Review
- Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.American journal of human genetics · 2012Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
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Abstract
Crouzon syndrome is an autosomal dominant condition primarily characterized by craniosynostosis. This syndrome has been associated with a variety of amino acid point mutations in the extracellular domain of fibroblast growth factor receptor 2 (FGFR2). FGFR2/Neu chimeras were generated by substituting the extracellular domain of Neu with that of FGFR2 containing the following Crouzon mutations: Tyr-340-->His; Cys-342-->Tyr; Cys-342-->Arg; Cys-342-->Ser; Ser-354-->Cys: and delta17 (deletion of amino acids 345-361). Each of the mutant chimeric FGFR2/Neu constructs stimulated focus formation in NIH 3T3 cells, indicating that Crouzon mutations can stimulate signal transduction through a heterologous receptor tyrosine kinase. In vitro kinase assay results indicate that FGFR2 receptors containing Crouzon mutations have increased tyrosine kinase activity and, when analyzed under nonreducing conditions, exhibited disulfide-bonded dimers. Thus the human developmental abnormality Crouzon syndrome arises from constitutive activation of FGFR2 due to aberrant intermolecular disulfide-bonding. These results together with our earlier observation that achondroplasia results from constitutive activation of the related receptor FGFR3, leads to the prediction that other malformation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive receptor activation.
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