Associated Papers
Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia.
Ascone G et al.
Biorxiv : the Preprint Server for Biology, 2025
New Phenotypic Features in FGFR1-Related Osteoglophonic Dysplasia.
Othman AA et al.
American Journal of Medical Genetics. Part A, 2025
N-glycan on N262 of FGFR3 regulates the intracellular localization and phosphorylation of the receptor.
Hashimoto U et al.
Biochimica Et Biophysica Acta. General Subjects, 2024
Integrated proteomics, phosphoproteomics and metabolomics analyses reveal similarities among giant cell granulomas of the jaws with different genetic mutations.
Vitório JG et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2022
KRAS mutations in brown tumor of the jaws in hyperparathyroidism.
Guimarães LM et al.
Journal of Oral Pathology & Medicine : Official Publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology, 2020
KRAS mutations in implant-associated peripheral giant cell granuloma.
Martins-Chaves RR et al.
Oral Diseases, 2020
Making sense of giant cell lesions of the jaws (GCLJ): lessons learned from next-generation sequencing.
Gomes CC et al.
The Journal of Pathology, 2020
Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone.
Baumhoer D et al.
The Journal of Pathology, 2019
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
Altered FGF signalling in congenital craniofacial and skeletal disorders.
Moosa S et al.
Seminars in Cell & Developmental Biology, 2016
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
Screening of mutations affecting protein stability and dynamics of FGFR1-A simulation analysis.
Doss CG et al.
Applied & Translational Genomics, 2012
Osteoglophonic dysplasia: A 'common' mutation in a rare disease.
Sow AJ et al.
Clinical Genetics, 2010
N-Glycosylation regulates fibroblast growth factor receptor/EGL-15 activity in Caenorhabditis elegans in vivo.
Polanska UM et al.
The Journal of Biological Chemistry, 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
Extended mutational analyses of FGFR1 in osteoglophonic dysplasia.
Farrow EG et al.
American Journal of Medical Genetics. Part A, 2006
Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations.
Wilkie AO
Cytokine & Growth Factor Reviews, 2005
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
White KE et al.
American Journal of Human Genetics, 2005