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
Clinical utility of trio whole exome sequencing in fetuses with ultrasound anomalies.
Zeng Z et al.
Human Genomics, 2025
RMRP variants inhibit the cell cycle checkpoints pathway in cartilage‑hair hypoplasia.
Gao J et al.
Molecular Medicine Reports, 2025
Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders.
Chen F et al.
Npj Digital Medicine, 2024
Heterozygous variant in FGFR3 underlying severe phenotypes in the second trimester: a case report.
Chen S et al.
Bmc Medical Genomics, 2023
Cilia kinases in skeletal development and homeostasis.
Abraham SP et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022
Achondroplasia-First Report from India of a Rare FGFR3 Gene Variant.
Chaudhry C et al.
Laboratory Medicine, 2021
Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.
Meyer AN et al.
American Journal of Medical Genetics. Part A, 2021
Role of the N-Terminal Transmembrane Helix Contacts in the Activation of FGFR3.
Matsuoka D et al.
Journal of Computational Chemistry, 2020
Noninvasive prenatal test for FGFR3-related skeletal dysplasia based on next-generation sequencing and plasma cell-free DNA: Test performance analysis and feasibility exploration.
Ren Y et al.
Prenatal Diagnosis, 2018
Detection of G1138A Mutation of the FGFR3 Gene in Tooth Material from a 180-Year-Old Museological Achondroplastic Skeleton.
Boer LL et al.
Genes, 2017
Achondroplasia: Development, pathogenesis, and therapy.
Ornitz DM et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2017
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
A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia.
Hasegawa K et al.
American Journal of Medical Genetics. Part A, 2016
C-Type Natriuretic Peptide Analog as Therapy for Achondroplasia.
Legeai-Mallet L
Endocrine Development, 2016
A novel mutation Ser344Cys in FGFR3 causes achondroplasia with severe platyspondyly.
Takagi M et al.
American Journal of Medical Genetics. Part A, 2015
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
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach.
Chitty LS et al.
Prenatal Diagnosis, 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
New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.
Shinde DN et al.
Human Molecular Genetics, 2013
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
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
He X et al.
Genetic Testing and Molecular Biomarkers, 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
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 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
The new bone biology: pathologic, molecular, and clinical correlates.
Cohen MM
American Journal of Medical Genetics. Part A, 2006
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
Role of receptor tyrosine kinase transmembrane domains in cell signaling and human pathologies.
Li E et al.
Biochemistry, 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
Genetic analysis of skeletal dysplasia: recent advances and perspectives in the post-genome-sequence era.
Ikegawa S
Journal of Human Genetics, 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
Medial temporal lobe dysgenesis in hypochondroplasia.
Kannu P et al.
American Journal of Medical Genetics. Part A, 2005
Cell responses to FGFR3 signalling: growth, differentiation and apoptosis.
L'Hôte CG et al.
Experimental Cell Research, 2005
Cellular signaling by fibroblast growth factor receptors.
Eswarakumar VP et al.
Cytokine & Growth Factor Reviews, 2005
Advances in the molecular pathogenesis of craniofacial conditions.
Britto JA
Oral and Maxillofacial Surgery Clinics of North America, 2004