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Nature, ISSN 0028-0836, 2014, Volume 513, Issue 7519, pp. 507 - 511
Gain-of-function mutations in the fibroblast growth factor receptor 3 gene (FGFR3) result in skeletal dysplasias, such as thanatophoric dysplasia and... 
APOPTOSIS | ACHONDROPLASIA | ACTIVATION | MULTIDISCIPLINARY SCIENCES | GROWTH-FACTOR RECEPTOR-3 | MICE | MUTATIONS | DWARFISM | EXPRESSION | PEPTIDE | CARTILAGE | Hydroxymethylglutaryl-CoA Reductase Inhibitors - administration & dosage | Chondrocytes - cytology | Lovastatin - pharmacology | Cartilage - pathology | Achondroplasia - pathology | Male | Cartilage - drug effects | Fluorobenzenes - administration & dosage | Thanatophoric Dysplasia - pathology | Fluorobenzenes - pharmacology | Receptor, Fibroblast Growth Factor, Type 3 - deficiency | Cartilage - cytology | Female | Cell Differentiation | Induced Pluripotent Stem Cells - cytology | Achondroplasia - drug therapy | Thanatophoric Dysplasia - genetics | Achondroplasia - genetics | Disease Models, Animal | Induced Pluripotent Stem Cells - pathology | Lovastatin - therapeutic use | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Bone Development - drug effects | Pyrimidines - administration & dosage | Mice, Inbred C57BL | Rosuvastatin Calcium | Pyrimidines - pharmacology | Sulfonamides - pharmacology | Phenotype | Animals | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Sulfonamides - therapeutic use | Pyrimidines - therapeutic use | Hydroxymethylglutaryl-CoA Reductase Inhibitors - therapeutic use | Thanatophoric Dysplasia - drug therapy | Mice | Fluorobenzenes - therapeutic use | Sulfonamides - administration & dosage | Achondroplasia | Radiography | Care and treatment | Usage | Analysis | Diagnosis | Protein kinases | Genotype & phenotype | Transcription factors | Disease | Mutation | Kinases | Patients | Statins | Index Medicus
Journal Article
Journal Article
Journal Article
Human molecular genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 19, pp. 4227 - 4243
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 05/2016, Volume 126, Issue 5, pp. 1871 - 1884
Achondroplasia (ACH) is the most frequent form of dwarfism and is caused by gain-of-function mutations in the fibroblast growth factor receptor 3-encoding... 
MEDICINE, RESEARCH & EXPERIMENTAL | ACHONDROPLASIA | PROMOTES BONE-GROWTH | THANATOPHORIC DYSPLASIA | GENE | STAT1 | GROWTH-FACTOR RECEPTOR-3 | CHONDROCYTE PROLIFERATION | DIFFERENTIATION | FGFR3 MUTATION | SKELETAL DEVELOPMENT | Humans | Achondroplasia - pathology | Receptor, Fibroblast Growth Factor, Type 3 - metabolism | STAT1 Transcription Factor - metabolism | Achondroplasia - metabolism | MAP Kinase Signaling System - genetics | Mice, Mutant Strains | HEK293 Cells | Phospholipase C gamma - genetics | Intervertebral Disc - pathology | Achondroplasia - drug therapy | Chondrocytes - metabolism | Achondroplasia - genetics | Disease Models, Animal | SOX9 Transcription Factor - metabolism | Chondrocytes - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Phospholipase C gamma - metabolism | Lumbar Vertebrae - metabolism | Intervertebral Disc - metabolism | Pyrimidines - pharmacology | STAT1 Transcription Factor - genetics | Animals | MAP Kinase Signaling System - drug effects | Lumbar Vertebrae - pathology | Mice | Phenylurea Compounds - pharmacology | SOX9 Transcription Factor - genetics | Cell Line, Transformed | Tyrosine | Dwarfism | Embryonic development | Phenols | Bank clearinghouses | Fibroblast growth factors | Health aspects | Genotype & phenotype | Phosphorylation | Bones | Vertebra | Software | Mutation | Polyclonal antibodies | Index Medicus | Abridged Index Medicus
Journal Article
Bone, ISSN 8756-3282, 12/2017, Volume 105, pp. 57 - 66
Tyrosine kinase inhibitors are being developed for therapy of malignancies caused by oncogenic FGFR signaling but little is known about their effect in... 
Achondroplasia | Craniosynostosis | ARQ 087 | Inhibitor | Skeletal dysplasia | Fibroblast growth factor receptor | FGFR | BONE-GROWTH | SKULL VAULT | FIBROBLAST-GROWTH-FACTOR | PFEIFFER-SYNDROME | CANCER | CHONDROCYTE DIFFERENTIATION | REPLICATIVE SENESCENCE | CARTILAGE | MOUSE MODEL | ENDOCRINOLOGY & METABOLISM | RECEPTOR TYROSINE KINASE | Limb Buds - pathology | Fibroblast Growth Factor 2 - pharmacology | Cellular Senescence - drug effects | Extracellular Matrix - metabolism | Tibia - pathology | Chondrocytes - drug effects | Craniosynostoses - drug therapy | Skull - pathology | Receptors, Fibroblast Growth Factor - genetics | Cell Culture Techniques | Chondrocytes - metabolism | Organ Culture Techniques | Chondrocytes - pathology | Aniline Compounds - pharmacology | Signal Transduction | Craniosynostoses - genetics | Extracellular Matrix - drug effects | Rats | Mutation - genetics | Tibia - drug effects | Animals | Cell-Free System | Cell Differentiation - drug effects | Quinazolines - therapeutic use | Chickens | Cell Proliferation - drug effects | Mice | Aniline Compounds - therapeutic use | Quinazolines - pharmacology | Craniosynostoses - pathology | Craniosynostoses | Models | Genetic aspects | Cell differentiation | Analysis | Dysplasia | Genetic disorders | Stem cells | Physiological aspects | Fibroblast growth factors | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2012, Volume 91, Issue 6, pp. 1108 - 1114
Achondroplasia (ACH), the most common form of dwarfism, is an inherited autosomal-dominant chondrodysplasia caused by a gain-of-function mutation in... 
OVEREXPRESSION | PROMOTES BONE-GROWTH | THANATOPHORIC DYSPLASIA | OVERGROWTH | GENETICS & HEREDITY | FIBROBLAST-GROWTH-FACTOR | FACTOR RECEPTOR-3 | MUTATIONS | NATRIURETIC PEPTIDE | DWARFISM | CHONDROCYTE DIFFERENTIATION | Growth Plate - pathology | Bone and Bones - pathology | Receptor, Fibroblast Growth Factor, Type 3 - genetics | Achondroplasia - diagnosis | Humans | Natriuretic Peptide, C-Type - analogs & derivatives | Treatment Outcome | Natriuretic Peptide, C-Type - physiology | Bone and Bones - drug effects | Radiography | Natriuretic Peptide, C-Type - chemistry | Organ Size - drug effects | Animals | Skull - pathology | Bone and Bones - metabolism | Skull - diagnostic imaging | Growth Plate - drug effects | Mice | Mutation | Achondroplasia - drug therapy | Skull - drug effects | Natriuretic Peptide, C-Type - therapeutic use | Achondroplasia - genetics | Disease Models, Animal | Health aspects | Mitogens | Phosphotransferases | Analysis | Natriuretic peptides | Dwarfism | Signal transduction | Genetic disorders | Peptides | Rodents | Kinases | Index Medicus | Animal models | Phosphorylation | Amino acids | MAP kinase | Digestion | Chondrodystrophy | Achondroplasia | Hypochondroplasia | Bone growth | Tibia | Chondrocytes | Skull | Acetylcholine | Skeleton | C-Type natriuretic peptide | Fibroblast growth factor receptors | Report
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2016, Volume 12, Issue 12, pp. e1006510 - e1006510
Journal Article
Journal Article