Associated Papers
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Prevalence and biological impact of clinically relevant gene fusions in head and neck cancers.
Hoskins EL et al.
Npj Precision Oncology, 2025
Mutational analysis of consanguineous families and their targeted therapy against dwarfism.
Khan F et al.
Journal of Biomolecular Structure & Dynamics, 2025
Role of the N-Terminal Transmembrane Helix Contacts in the Activation of FGFR3.
Matsuoka D et al.
Journal of Computational Chemistry, 2020
Therapeutics Targeting FGF Signaling Network in Human Diseases.
Katoh M
Trends in Pharmacological Sciences, 2016
Identification of a novel insertion mutation in FGFR3 that causes thanatophoric dysplasia type 1.
Lindy AS et al.
American Journal of Medical Genetics. Part A, 2016
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications.
Helsten T et al.
Cancer Metastasis Reviews, 2015
Functions of Fibroblast Growth Factor Receptors in cancer defined by novel translocations and mutations.
Gallo LH et al.
Cytokine & Growth Factor Reviews, 2015
A novel variant of FGFR3 causes proportionate short stature.
Kant SG et al.
European Journal of Endocrinology, 2015
Analysis of the clinical and molecular characteristics of a child with achondroplasia: A case report.
Liu J et al.
Experimental and Therapeutic Medicine, 2015
Role of FGFs/FGFRs in skeletal development and bone regeneration.
Du X et al.
Journal of Cellular Physiology, 2012
Physical-chemical principles underlying RTK activation, and their implications for human disease.
He L et al.
Biochimica Et Biophysica Acta, 2012
Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.
Foldynova-Trantirkova S et al.
Human Mutation, 2012
Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.
He L et al.
Plos One, 2012
The A391E mutation enhances FGFR3 activation in the absence of ligand.
Chen F et al.
Biochimica Et Biophysica Acta, 2011
Fibroblast growth receptor-3 (FGFR3) G375C mutation in a case of achondroplasia and thanatophoric dysplasia phenotypic overlap.
Barton C et al.
Clinical Dysmorphology, 2010
Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.
Su N et al.
Human Molecular Genetics, 2010
The strong dimerization of the transmembrane domain of the fibroblast growth factor receptor (FGFR) is modulated by C-terminal juxtamembrane residues.
Peng WC et al.
Protein Science : a Publication of the Protein Society, 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
The ACVR1 617G>A mutation is also recurrent in three Japanese patients with fibrodysplasia ossificans progressiva.
Nakajima M et al.
Journal of Human Genetics, 2007
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
Heuertz S et al.
European Journal of Human Genetics : Ejhg, 2006
Prenatal diagnosis of achondroplasia presenting with multiple-suture synostosis: a novel association.
Karadimas C et al.
Prenatal Diagnosis, 2006
Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele.
Rump P et al.
American Journal of Medical Genetics. Part A, 2006
FGF upregulates osteopontin in epiphyseal growth plate chondrocytes: implications for endochondral ossification.
Weizmann S et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2005
Cell responses to FGFR3 signalling: growth, differentiation and apoptosis.
L'Hôte CG et al.
Experimental Cell Research, 2005
Neurotrophic activities of trk receptors conserved over 600 million years of evolution.
Beck G et al.
Journal of Neurobiology, 2004
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.
Legeai-Mallet L et al.
Bone, 2004
Roles of FGF receptors in mammalian development and congenital diseases.
Coumoul X et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2003
Genetically altered mouse models: the good, the bad, and the ugly.
Thyagarajan T et al.
Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists, 2003
Differential activation of cysteine-substitution mutants of fibroblast growth factor receptor 3 is determined by cysteine localization.
Adar R et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
Camera G et al.
American Journal of Medical Genetics, 2001
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.
van Bokhoven H et al.
American Journal of Human Genetics, 2001
Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.
Iwata T et al.
Human Molecular Genetics, 2001
Prenatal diagnosis and genetic analysis of type I and type II thanatophoric dysplasia.
Chen CP et al.
Prenatal Diagnosis, 2001
Somatic mutations of fibroblast growth factor receptor 3 (FGFR3) are uncommon in carcinomas of the uterine cervix.
Wu R et al.
Oncogene, 2000
Achondroplasia in diverse Jewish and Arab populations in Israel: clinical and molecular characterization.
Falik-Zaccai TC et al.
The Israel Medical Association Journal : Imaj, 2000
A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.
Iwata T et al.
Human Molecular Genetics, 2000
Expression of FGFR3 with the G380R achondroplasia mutation inhibits proliferation and maturation of CFK2 chondrocytic cells.
Henderson JE et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2000
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
Chen L et al.
The Journal of Clinical Investigation, 1999
[Mutations of the fibroblast growth factor receptor 3 gene in achondroplasia].
Zhao P et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 1999
A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.
Li C et al.
Human Molecular Genetics, 1999
Clinical spectrum of fibroblast growth factor receptor mutations.
Passos-Bueno MR et al.
Human Mutation, 1999
Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation.
Raffioni S et al.
The Journal of Biological Chemistry, 1998
A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia.
Fofanova OV et al.
Endocrine Journal, 1998
Fibroblast growth factor receptor 3 mutations promote apoptosis but do not alter chondrocyte proliferation in thanatophoric dysplasia.
Legeai-Mallet L et al.
The Journal of Biological Chemistry, 1998
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N et al.
Endocrine Journal, 1998
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.
Thompson LM et al.
Molecular and Cellular Biology, 1997
Heritable diseases of the skeleton. Part I: Molecular insights into skeletal development-transcription factors and signaling pathways.
Mundlos S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 1997
[A new mutation causes achondrodysplasia. A simple DNA analysis confirms the diagnosis].
Alderborn A et al.
Lakartidningen, 1997