Associated Papers
Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.
Palollathil A et al.
Proteomes, 2026
The heterozygous c.2241G>C variation in FGFR2 may cause autosomal dominant Kirner's deformity in a Chinese Han pedigree.
Ma M et al.
Bmc Medical Genomics, 2026
Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.
Tangermann C et al.
Nature Genetics, 2026
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
A Phase I Study of KIN-3248, an Irreversible Small-molecule Pan-FGFR Inhibitor, in Patients with Advanced FGFR2/3-driven Solid Tumors.
Garmezy B et al.
Cancer Research Communications, 2024
Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder.
Lian Y et al.
International Journal of Molecular Sciences, 2024
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Molecular basis for receptor tyrosine kinase A-loop tyrosine transphosphorylation.
Chen L et al.
Nature Chemical Biology, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Craniosynostosis as a clinical and diagnostic problem: molecular pathology and genetic counseling.
Kutkowska-Kaźmierczak A et al.
Journal of Applied Genetics, 2018
Effects of FGFR2 kinase activation loop dynamics on catalytic activity.
Karp JM et al.
Plos Computational Biology, 2017
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
FGFR inhibitors: Effects on cancer cells, tumor microenvironment and whole-body homeostasis (Review).
Katoh M
International Journal of Molecular Medicine, 2016
Activating mutations cluster in the "molecular brake" regions of protein kinases and do not associate with conserved or catalytic residues.
Molina-Vila MA et al.
Human Mutation, 2014
A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.
Suh YJ et al.
Journal of Cellular Biochemistry, 2014
Structure-functional prediction and analysis of cancer mutation effects in protein kinases.
Dixit A et al.
Computational and Mathematical Methods in Medicine, 2014
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
Roscioli T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013
Fibroblast growth factor receptors, developmental corruption and malignant disease.
Kelleher FC et al.
Carcinogenesis, 2013
Genetic basis of single-suture synostoses: genes, chromosomes and clinical implications.
Lattanzi W et al.
Child's Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery, 2012
Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
Sharma VP et al.
The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-craniofacial Association, 2012
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
Isolation of hyperactive mutants of mammalian target of rapamycin.
Ohne Y et al.
The Journal of Biological Chemistry, 2008
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
Chen H et al.
Molecular Cell, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2007
Clinical dividends from the molecular genetic diagnosis of craniosynostosis.
Wilkie AO et al.
American Journal of Medical Genetics. Part A, 2006
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain.
McGillivray G et al.
Journal of Medical Genetics, 2005
A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome.
de Ravel TJ et al.
European Journal of Human Genetics : Ejhg, 2005