|
rs28931615
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients.
|
11426459 |
2001 |
|
rs121913479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
10587515 |
1999 |
|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
rs1211533350
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood.
|
9672519 |
1998 |
|
rs28933068
|
|
|
0.750 |
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 |
|
rs28933068
|
|
|
0.750 |
GeneticVariation |
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
rs28933068
|
|
|
0.750 |
GeneticVariation |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
rs28933068
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
|
rs28933068
|
|
|
0.750 |
GeneticVariation |
BEFREE |
Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood.
|
9672519 |
1998 |
|
rs75790268
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism.
|
22529939 |
2012 |
|
rs75790268
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We examined the G380R mutation (G > A and G > C transition) and the mutation G375C (G > T transition at codon 375) in 31 sporadic patients and in one family diagnosed clinically to have achondroplasia.
|
10979354 |
2000 |
|
rs75790268
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Here we show that a glycine-to-cysteine substitution at position 375 (Gly375Cys) in human FGFR3 causes ligand-independent dimerization and phosphorylation of FGFR3 and that the equivalent substitution at position 369 (Gly369Cys) in mouse FGFR3 causes dwarfism with features mimicking human achondroplasia.
|
10587515 |
1999 |
|
rs75790268
|
|
|
0.850 |
GeneticVariation |
BEFREE |
Chimeras of the native form or achondroplasia mutant (G375C) of human fibroblast growth factor receptor 3 induce ligand-dependent differentiation of PC12 cells.
|
9199352 |
1997 |
|
rs75790268
|
|
|
0.850 |
GeneticVariation |
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |
|
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 |
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 |
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 |
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 |