Associated Papers
Genetic skeletal disorders: phenotypic-genotypic characteristics and RhGH therapy responses of a pediatric cohort.
Huang Y et al.
Scientific Reports, 2025
Targeted allele-specific FGFR2 knockdown via human recombinant ferritin nanoparticles for personalized treatment of Crouzon syndrome.
Tiberio F et al.
Molecular Therapy. Nucleic Acids, 2025
Molecular Scalpels: The Future of Pediatric Craniofacial Surgery?
Timberlake AT
Plastic and Reconstructive Surgery, 2023
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Concurrent Presentations of Hereditary Spherocytosis and Craniosynostosis Syndromes in Siblings: A Case Series.
Matossian M et al.
Clinical Pediatrics, 2021
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Molecular Modeling and Functional Analysis of Exome Sequencing-Derived Variants of Unknown Significance Identify a Novel, Constitutively Active FGFR2 Mutant in Cholangiocarcinoma.
Egan JB et al.
Jco Precision Oncology, 2017
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes MB et al.
American Journal of Medical Genetics. Part A, 2016
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ et al.
Journal of Cellular Biochemistry, 2014
Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach.
C GP et al.
Applied Biochemistry and Biotechnology, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
FGF signaling: its role in bone development and human skeleton diseases.
Su N et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
Passos-Bueno MR et al.
Frontiers of Oral Biology, 2008
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
Unclassifiable craniosynostosis phenotypes, FGFR2 Trp290 mutations, acanthosis nigricans, and unpaired cysteine mutations.
Cohen MM
American Journal of Medical Genetics, 2002
Crystal structures of two FGF-FGFR complexes reveal the determinants of ligand-receptor specificity.
Plotnikov AN et al.
Cell, 2000
FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models.
Kannan K et al.
Iubmb Life, 2000
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain.
Robertson SC et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
Steinberger D et al.
Human Genetics, 1998
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
No evidence of genetic heterogeneity in Crouzon craniofacial dysostosis.
Ma HW et al.
Human Genetics, 1995
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Park WJ et al.
American Journal of Human Genetics, 1995
Molecular modeling based mutagenesis defines ligand binding and specificity determining regions of fibroblast growth factor receptors.
Gray TE et al.
Biochemistry, 1995
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
Park WJ et al.
Human Molecular Genetics, 1995
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Jabs EW et al.
Nature Genetics, 1994