Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts
Nguyen H, Estacion M, Gargus J. Mutations Causing Achondroplasia and Thanatophoric Dysplasia Alter bFGF-Induced Calcium Signals in Human Diploid Fibroblasts. Human Molecular Genetics 1997, 6: 681-688. PMID: 9158142, DOI: 10.1093/hmg/6.5.681.Peer-Reviewed Original ResearchMeSH KeywordsAchondroplasiaBradykininCalciumCell LineDiploidyFibroblast Growth Factor 2FibroblastsHomozygoteHumansMutationProtein-Tyrosine KinasesReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 1Receptor, Fibroblast Growth Factor, Type 2Receptor, Fibroblast Growth Factor, Type 3Receptors, Fibroblast Growth FactorRNA SplicingSignal TransductionThanatophoric DysplasiaConceptsThanatophoric dysplasiaCalcium signalsBasic fibroblast growth factorCell linesCalcium-imaging analysesFibroblast growth factorFibroblast growth factor receptor (FGFR) gene familyHuman diploid fibroblastsPathophysiological mechanismsIntracellular calciumBlinded studyFGFR3 mutationsUnresponsive linesReceptor functionHereditary disorderTransient increaseGrowth factorDiploid fibroblastsControl cellsBone developmentFibroblast cell lineCalcium wavesReceptor gene familyHeterogeneous signalsAchondroplasia