|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast, only FGFR3 mutations have been reported in dwarfing conditions--achondroplasia, thanatophoric dysplasia, and hypochondroplasia.
|
7493034 |
1995 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
7647778 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia.
|
7649548 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Within the past year, the achondroplasia locus has been mapped to 4p 16.3 (refs 5-7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder.
|
7670477 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
|
7702086 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This observation indicates allelic heterogeneity and confirms the role of mutations in the transmembrane domain of FGFR-3 in the pathogenesis of achondroplasia.
|
7758520 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD.
|
7773297 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain.
|
7847369 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes.
|
7913883 |
1994 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia.
|
7913883 |
1994 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series.
|
8078586 |
1994 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest that the molecular basis of achondroplasia is unregulated signal transduction through FGFR3, which may result in inappropriate cartilage growth plate differentiation and thus abnormal long bone development.
|
8599935 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
|
Achondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Contrasts between the skeletal phenotype and achondroplasia suggest that activation of FGFR3 causes achondroplasia.
|
8630492 |
1996 |
|
Achondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this report the effect of the ACH and TD mutations on the activity and regulation of FGFR3 are analysed.
|
8640234 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.
|
8661097 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.
|
8682509 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, it appears that recurrent mutations of a single amino acid in the transmembrane domain of the FGFR3 protein account for all cases (23/23) of achondroplasia in our series.
|
8742128 |
1996 |
|
Achondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
These results together with our earlier observation that achondroplasia results from constitutive activation of the related receptor FGFR3, leads to the prediction that other malformation syndromes attributed to FGFRs, such as Pfeiffer syndrome and Thanatophoric dysplasia, also arise from constitutive receptor activation.
|
8755573 |
1996 |