Associated Papers
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
DyVarMap: Integrating Conformational Dynamics and Interpretable Machine Learning for Cancer-Associated Missense Variant Classification in FGFR2.
Lian Y et al.
Bioengineering (basel, Switzerland), 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
Natural human tRNAAla anticodon variants mistranslate the genetic code.
Tennakoon R et al.
Rna (new York, N.y.), 2025
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
Comprehensive functional network analysis and screening of deleterious pathogenic variants in non-syndromic hearing loss causative genes.
Ray M et al.
Bioscience Reports, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.
Talebi F et al.
International Journal of Pediatric Otorhinolaryngology, 2017
Therapeutics Targeting FGF Signaling Network in Human Diseases.
Katoh M
Trends in Pharmacological Sciences, 2016
Novel EPHB4 Receptor Tyrosine Kinase Mutations and Kinomic Pathway Analysis in Lung Cancer.
Ferguson BD et al.
Scientific Reports, 2015
The role of protein structural analysis in the next generation sequencing era.
Yue WW et al.
Topics in Current Chemistry, 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
Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation.
Lew ED et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Mutations in different components of FGF signaling in LADD syndrome.
Rohmann E et al.
Nature Genetics, 2006