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 |
GeneticVariation
|
disease |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
|
11746040 |
2001 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
Malignant neoplasm of urinary bladder
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
Malignant neoplasm of urinary bladder
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
|
11314002 |
2001 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Here we report an A to G transition at position 1651, predicting an Ile538Val substitution in the FGFR3, in hypochondroplasia.
|
10215410 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In 90 individuals with suspected clinical diagnoses of hypochondroplasia who do not have Asn540Lys mutations, we screened for mutations, in FGFR3 exon 15, that would disrupt a unique BbsI restriction site that includes the Lys650 codon.
|
11055896 |
2000 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Asn540Thr substitution in the fibroblast growth factor receptor 3 tyrosine kinase domain causing hypochondroplasia.
|
9452043 |
1998 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
|
12707965 |
2003 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene.
|
10777366 |
2000 |
Hypochondroplasia (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We now report a single FGFR3 mutation found in 8 out of 14 unrelated patients with hypochondroplasia.
|
7670477 |
1995 |
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The mechanism of FGFR3 activation in TDII was probed by constructing various point mutations in the activation loop.
|
8754806 |
1996 |
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.
|
7773297 |
1995 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.
|
9790257 |
1998 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We examined 22 cases of TD variants for the presence of missense mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
10360402 |
1999 |