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
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
An additional whole-exome sequencing study in 102 panel-undiagnosed patients: A retrospective study in a Chinese craniosynostosis cohort.
Chen J et al.
Frontiers in Genetics, 2022
Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.
Yoon JG et al.
Neurosurgery, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
A homologous mapping method for three-dimensional reconstruction of protein networks reveals disease-associated mutations.
Huang SH et al.
Bmc Systems Biology, 2018
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 2017
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & 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
Molecular mechanisms of fibroblast growth factor signaling in physiology and pathology.
Belov AA et al.
Cold Spring Harbor Perspectives in Biology, 2013
Exploring mechanisms of FGF signalling through the lens of structural biology.
Goetz R et al.
Nature Reviews. Molecular Cell Biology, 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
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
Pollock PM et al.
Oncogene, 2007
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie E et al.
European Journal of Human Genetics : Ejhg, 2006
Structural basis for fibroblast growth factor receptor activation.
Mohammadi M et al.
Cytokine & Growth Factor Reviews, 2005
Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities.
Ibrahimi OA et al.
Human Molecular Genetics, 2004
Roles of FGF receptors in mammalian development and congenital diseases.
Coumoul X et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2003
FGFs, their receptors, and human limb malformations: clinical and molecular correlations.
Wilkie AO et al.
American Journal of Medical Genetics, 2002
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
Johnson D et al.
European Journal of Human Genetics : Ejhg, 2000
FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models.
Kannan K et al.
Iubmb Life, 2000
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
Cornejo-Roldan LR et al.
Human Genetics, 1999
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
Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.
Nagase T et al.
The Journal of Craniofacial Surgery, 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
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus GA et al.
Nature Genetics, 1996
[Frequent missense mutations of fibroblast growth factor receptor (FGFR) gene families in craniofacial syndromes in Japanese patients].
Ishigaki M et al.
Rinsho Byori. the Japanese Journal of Clinical Pathology, 1996
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
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