|
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 |
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 |
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 |
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 |
|
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 |
|
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 |
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 |
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 |
|
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 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
More than 97% of achondroplasia cases are caused by one of two mutations (G1138A and G1138C) in the fibroblast growth factor receptor 3 (FGFR3) gene, which results in a specific amino acid substitution, G380R.
|
9718331 |
1998 |
|
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 |
We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families.
|
8742128 |
1996 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia.
|
8078586 |
1994 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
No remarkable clinical or radiological differences were evident among the ACH infants and children with G380R, the HCH patients with N540K, and the patients without verified mutations.
|
16355813 |
2005 |
|
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 |
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 |
Here we compared the ubiquitylation of either wild type or a K508A 'kinase-dead' mutant of fibroblast growth factor receptor 3 (FGFR3) with that of its naturally occurring overactive mutants, G380R as in achondroplasia, or K650E involved in thanatophoric dysplasia.
|
12297284 |
2002 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor.
|
11518810 |
2001 |
|
rs28931614
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Karyotype was normal and FGFR3 G380R mutation characteristic of ACH was excluded in both fetuses.
|
16575888 |
2006 |
|
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 |
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 |
Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia.
|
26686765 |
2016 |