|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region.
|
31048079 |
2020 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach).
|
29323153 |
2018 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The classic phenotype of ACH is caused by two highly prevalent mutations, c.1138G > A and c.1138G > C (p.Gly380Arg).
|
30160829 |
2018 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Our findings support the fact that p.G380R is a common mutation among diverse population of the world and like other countries, can be used as a molecular diagnosis marker for achondroplasia in Pakistan.
|
28679403 |
2017 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in the transmembrane domain of FGFR3 is a germline mutation responsible for most cases of Achondroplasia, a common form of human dwarfism.
|
27040652 |
2016 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
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 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism.
|
22529939 |
2012 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Direct assessment of the effect of the Gly380Arg achondroplasia mutation on FGFR3 dimerization using quantitative imaging FRET.
|
23056398 |
2012 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Rapid detection of G1138A and G1138C mutations of the FGFR3 gene in patients with achondroplasia using high-resolution melting analysis.
|
22339077 |
2012 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia.
|
20963478 |
2011 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in the transmembrane domain of fibroblast growth factor receptor 3 (FGFR3) causes achondroplasia, the most common form of human dwarfism.
|
21324899 |
2011 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified.
|
21739570 |
2011 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The G380R mutation in FGFR3 transmembrane domain is known as the genetic cause for achondroplasia, the most common form of human dwarfism.
|
20624921 |
2010 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs.
|
19789973 |
2009 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
In germ-line tissues, the G1138A mutation results in achondroplasia and has one of the highest spontaneous mutation rates in the human genome.
|
19551630 |
2009 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
This mechanism was present in ACH children carrying the G380R mutation but also in a patient in whom no mutation could be detected in the entire coding region of the FGFR3 gene.
|
19802676 |
2009 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The high-resolution melting curve analysis successfully genotyped the c.1138G>A mutation in exon 8 of the FGFR3 gene in all 40 patients with achondroplasia without the need of further assays.
|
18199430 |
2008 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively.
|
18196933 |
2008 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The assay has been tested in 50 healthy controls, 3 known patients with achondroplasia, and 5 amniotic fluids suspected of having achondroplasia and for whom we had previously determined the genotypes for the c.1138G>A mutation by PCR-RFLP.
|
17683901 |
2008 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
We describe a Klinefelter patient (non-mosaic 47,XXY karyotype) who was heterozygous for the classical 1138G>A mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, which is a gain-of-function mutation resulting in achondroplasia.
|
17554105 |
2007 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5.
|
17466614 |
2007 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The fetal G1138A mutation was detectable in the two achondroplasia-affected pregnancies by the analysis of cf-DNA in maternal plasma using MALDI-TOF MS.
|
17154237 |
2007 |