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
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.
Bukowska-Olech E et al.
Frontiers in Molecular Biosciences, 2022
Simultaneous Detection of CNVs and SNVs Improves the Diagnostic Yield of Fetuses with Ultrasound Anomalies and Normal Karyotypes.
Qi Q et al.
Genes, 2020
Clinical study and some molecular features of Mexican patients with syndromic craniosynostosis.
Ibarra-Arce A et al.
Molecular Genetics & Genomic Medicine, 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
Nuclear Fibroblast Growth Factor Receptor Signaling in Skeletal Development and Disease.
Tuzon CT et al.
Current Osteoporosis Reports, 2019
FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Y et al.
Molecular Medicine Reports, 2017
FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
Hibberd CE et al.
American Journal of Medical Genetics. Part A, 2016
Understanding craniosynostosis as a growth disorder.
Flaherty K et al.
Wiley Interdisciplinary Reviews. Developmental Biology, 2016
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
Characterization of pathogenic germline mutations in human protein kinases.
Izarzugaza JM et al.
Bmc Bioinformatics, 2011
Cancer-associated mutations are preferentially distributed in protein kinase functional sites.
Izarzugaza JM et al.
Proteins, 2009
FGFR2 abnormalities underlie a spectrum of bone, skin, and cancer pathologies.
Katoh M
The Journal of Investigative Dermatology, 2009
Loss-of-function fibroblast growth factor receptor-2 mutations in melanoma.
Gartside MG et al.
Molecular Cancer Research : Mcr, 2009
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
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
Passos-Bueno MR et al.
American Journal of Medical Genetics, 1998
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
Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development.
Park WJ et al.
American Journal of Human Genetics, 1995
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
Oldridge M et al.
Human Molecular Genetics, 1995
Current Understanding of Crouzon Syndrome Pathophysiology and New Therapeutic Approaches.
Tiberio F et al.
The Journal of Craniofacial Surgery, 0