Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene. 27370225 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE Moreover, we show that low dose of NVP-BGJ398 improves in vivo condyle growth and corrects dysmorphologies in Fgfr3<sup>Y367C/+</sup> mice, suggesting that postnatal treatment with NVP-BGJ398 mice might offer a new therapeutic strategy to improve mandible anomalies in ACH and others FGFR3-related disorders. 27260401 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE NVP-BGJ398 inhibited FGFR3 downstream signaling pathways, including MAPK, SOX9, STAT1, and PLCγ, in the growth plates of Fgfr3Y367C/+ mice and in cultured chondrocyte models of ACH. 27064282 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia. 27506979 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE To determine whether the fetus carries the de novo mis-sense genetic mutation at nucleotide 1138 in FGFR3 gene involved in >99% of achondroplasia cases, we developed two independent methods: digital-droplet PCR combined with minisequencing, which are very sensitive methods allowing detection of rare alleles. 26850935 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Gain-of-function mutations in the FGFR3 gene result in chondrodysplasias which include achondroplasia (ACH), the most common form of dwarfism, in which skull, appendicular and axial skeletons are affected. 26684019 2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type. 25119967 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE When grouped according to the "International Skeletal Dysplasia Society 2010 classification" the most frequent group is "FGFR3 group" (achondroplasia). 25931420 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Recently it has been demonstrated that FGFR3 mutations affect not only endochondral ossification but also membranous ossification, providing new explanations for the craniofacial hallmarks in achondroplasia. 25691418 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study. 26377240 2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis. 24864036 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 AlteredExpression disease BEFREE FGFR3 is a negative regulator of chondrogenesis and multiple mutations with constitutive activity of FGFR3 result in achondroplasia, one of the most common dwarfisms in humans, but the molecular mechanism remains elusive. 24657641 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Partial premature fusion of the coronal sutures and non-ossified gaps in frontal bones were also present in Fgfr3(Y367C/+) mice and ACH patients. 24419316 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations. 24616001 2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Meclozine also ameliorated abnormally suppressed proliferation of human chondrosarcoma (HCS-2/8) cells that were infected with lentivirus expressing constitutively active mutants of FGFR3-K650E causing thanatophoric dysplasia, FGFR3-K650M causing SADDAN, and FGFR3-G380R causing ACH. 24324705 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE The classic example of a genetic disorder exhibiting a PAE is achondroplasia, caused predominantly by a single-nucleotide substitution (c.1138G>A) in FGFR3. 23740942 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease MGD Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia. 23200862 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE Instead, the phosphorylation efficiency within un-liganded FGFR3 dimers is increased, and this increase is likely the underlying cause for pathogenesis in achondroplasia. 22529939 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Compared with RFLP-PCR, HRM analysis provided a more rapid, simpler, and less expensive approach for detecting the most common FGFR3 mutations carried by patients with ACH. 22339077 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis). 22946287 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). 22045636 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GermlineCausalMutation disease ORPHANET Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3. 23149434 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 Biomarker disease BEFREE FGFR3 targeting strategies for achondroplasia. 22559284 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE The data are consistent with the idea that the ACH mutation causes a structural change which affects both the stability and the activity of FGFR3 dimers in the absence of ligand. 23056398 2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
1.000 GeneticVariation disease BEFREE Gain-of-function mutations in fibroblast growth factor receptor-3 (FGFR3) lead to several types of human skeletal dysplasia syndromes including achondroplasia, hypochondroplasia and thanatophoric dysplasia (TD). 23014564 2012