Associated Papers
Unsupervised learning reveals landscape of local structural motifs across protein classes.
Derry A et al.
Bioinformatics (oxford, England), 2025
New CRISPR/Cas9-based Fgfr2C361Y/+ mouse model of Crouzon syndrome exhibits skull and behavioral abnormalities.
Yue YY et al.
Journal of Molecular Medicine (berlin, Germany), 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Craniofacial syndromes and class III phenotype: common genotype fingerprints? A scoping review and meta-analysis.
Faria-Teixeira MC et al.
Pediatric Research, 2024
Perinatal imaging findings of a fetus with Pfeiffer syndrome and a heterozygous c.1019A>G, p.Tyr340Cys (Y340C) mutation in FGFR2 presenting a cloverleaf skull, craniosynostosis and short limbs on prenatal ultrasound mimicking thanatophoric dysplasia type II.
Chen CP et al.
Taiwanese Journal of Obstetrics & Gynecology, 2024
Truncated FGFR2 is a clinically actionable oncogene in multiple cancers.
Zingg D et al.
Nature, 2022
Growth charts in FGFR2- and FGFR3-related faciocraniosynostoses.
Ea C et al.
Bone Reports, 2022
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
Azoury SC et al.
International Journal of Biological Sciences, 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
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
Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.
Hatch NE et al.
The Journal of Biological Chemistry, 2006
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
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
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
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
The genetic background of craniosynostosis syndromes.
Heutink P et al.
European Journal of Human Genetics : Ejhg, 1995
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
Jabs EW et al.
Nature Genetics, 1994
Novel mutation detection in craniosynostosis promotes characterization, identification, gene expression, tissue engineering and helps clinical practice and translational research.
Barik M et al.
Neurology India, 0