|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia.
|
26686765 |
2016 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This work reveals new information about the molecular events that underlie the achondroplasia phenotype, and highlights differences in FGFR3 activation due to different single amino-acid pathogenic mutations.
|
27040652 |
2016 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
HDAC6 deficiency or inhibition blocks FGFR3 accumulation and improves bone growth in a model of achondroplasia.
|
27506979 |
2016 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The FGFR3 pathogenic variation p.Pro250Arg responsible for MS was characterized in all probands by PCR-restriction assay; available first-degree relatives (15 parents, 5 siblings) of the confirmed p.Pro250Arg carriers were also tested.
|
27568649 |
2016 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thanatophoric dysplasia, hypochondroplasia and achondroplasia are all caused by FGFR3 (fibroblast growth factor receptor 3) mutations.
|
24616001 |
2014 |
|
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic variability in two families of Muenke syndrome with FGFR3 mutation.
|
24705944 |
2014 |
|
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A familial case of Muenke syndrome. Diverse expressivity of the FGFR3 Pro252Arg mutation--case report and review of the literature.
|
24168007 |
2014 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |
|
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome is an autosomal dominant craniosynostosis syndrome resulting from a defining point mutation in the Fibroblast Growth Factor Receptor3 (FGFR3) gene.
|
23378035 |
2013 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
|
23200862 |
2012 |
|
Achondroplasia
|
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 |
|
Achondroplasia
|
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 |