|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given the homogeneity of mutations within the fibroblast growth factor receptor 3 (FGFR3) gene in the vast majority of patients with Ach, FGFR3 mutational analysis can be offered in every instance where a short-limb disorder is ultrasonographically detected in the latter stages of pregnancy.
|
8809893 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Funipuncture was performed and DNA analysis of fetal blood demonstrated the presence of the GR380R fibroblast growth factor receptor 3 (FGFR3), which is specifically associated with achondroplasia.
|
8878289 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the type II collagen gene account for most spondyloepiphyseal dysplasia and spondyloepiphyseal dysplasia-like clinical disorders, whereas mutations in the fibroblast growth factor receptor 3 gene are responsible for achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
8879993 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
|
9001669 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The relative clinical homogeneity of achondroplasia was substantiated by demonstration of its genetic homogeneity: 100% of patients examined exhibited mutations in the transmembrane domain of FGFR-3.
|
9055906 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, the gene mutation responsible for ACH has been identified in the transmembrane domain of the fibroblast growth factor receptor 3 gene.
|
9115628 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The heterozygous phenotype has been likened to achondroplastic dwarfism in humans (ACH), which has recently been shown to be the result of mutations in the transmembrane region of the fibroblast growth factor receptor 3 (FGFR3) gene.
|
9124710 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Using our established techniques for single-cell ratiometric real-time calcium image analysis, we defined the nature of the basic fibroblast growth factor (bFGF)-induced calcium signal in human diploid fibroblasts, and, in blinded studies, have analyzed the bFGF-induced signals from 18 independent fibroblast cell lines, including multiple lines from patients with known mutant alleles of FGFR3 and syndromes of Ach or TD.
|
9158142 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The cells with the chimera bearing the ACH mutation were more rapidly responsive to ligand with less sustained MAPK activation, indicative of a preactivated or primed condition and consistent with the view that these mutations weaken ligand control of FGFR3 function.
|
9199352 |
1997 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations of COL2A1, COL9A2, COL10, and FGFR3 have been reported previously in the Strudwick type of SEMD, multiple epiphyseal dysplasia type 2 (EDM2), the Schmid type of metaphyseal dysplasia, and in achondroplasia, respectively, and the pseudoachondroplasia (PSACH) locus has been mapped to chromosome 19p12.
|
9258750 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the gene encoding the fibroblast growth factor receptor 3 (FGFR3) have been found in persons with achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
9300204 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The vast majority of patients with achondroplasia have a G-->A substitution at position 1138 of the fibroblast growth factor receptor (FGFR3) cDNA sequence, resulting in the substitution of an arginine for a glycine residue at position 380 of the FGFR3 protein.
|
9401015 |
1997 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three distinct 1-bp polymorphisms were identified in the FGFR3 gene, within close proximity to the achondroplasia mutation site.
|
9718331 |
1998 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.
|
9811582 |
1998 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal growth and activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of dwarfism in humans.
|
9811582 |
1998 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
However, when the copy number of the mutant allele increased from one (Fgfr3(TD/+) to two (Fgfr3(TD/TD), the retardation of bone growth became more severe and showed phenotypes resembling those of achondroplasia patients, characterized by a dramatically reduced proliferation of growth plate cartilage, macrocephaly and shortening of the long bones, which was most pronounced in the femur.
|
9887329 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
However, when the copy number of the mutant allele increased from one (Fgfr3(TD/+) to two (Fgfr3(TD/TD), the retardation of bone growth became more severe and showed phenotypes resembling those of achondroplasia patients, characterized by a dramatically reduced proliferation of growth plate cartilage, macrocephaly and shortening of the long bones, which was most pronounced in the femur.
|
9887329 |
1999 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the fibroblast growth factor receptor 3 (FGFR3) were identified in patients with achondroplasia.
|
10102070 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These experiments demonstrate that achondroplasia results from a gain-of-FGFR3-function leading to inhibition of chondrocyte proliferation.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
10587515 |
1999 |