|
rs78311289
|
|
|
0.050 |
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 |
|
rs78311289
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Screening of 30 spermatocytic seminomas for oncogenic mutations in 17 genes identified 2 mutations in FGFR3 (both 1948A>G, encoding K650E, which causes thanatophoric dysplasia in the germline) and 5 mutations in HRAS.
|
19855393 |
2009 |
|
rs78311289
|
|
|
0.050 |
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 |
|
rs78311289
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In all other cases, the femora were curved, and CS was infrequently present but was occasionally as severe as TD with the Lys650Glu substitution.
|
9677066 |
1998 |
|
rs78311289
|
|
|
0.050 |
GeneticVariation |
BEFREE |
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 |
|
rs28931614
|
|
|
0.020 |
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
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The mapping of the achondroplasia locus to the short arm of chromosome 4 and the subsequent identification of a recurrent missense mutation (Gly380Arg) in the gene encoding fibroblast growth factor receptor 3 (FGFR-3) has been followed by the detection of common FGFR-3 mutations in two clinically related disorders: thanatophoric dysplasia (TD; types I and II) and hypochondroplasia.
|
9055906 |
1996 |
|
rs121913105
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.
|
25119967 |
2015 |
|
rs121913482
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We highlight the theoretical risk of the patient having an offspring with thanatophoric dysplasia as gonadal mosaicism for the R248C mutation cannot be excluded.
|
21639936 |
2011 |
|
rs1211533350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R].
|
19449430 |
2009 |
|
rs267606808
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R].
|
19449430 |
2009 |
|
rs28933068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a unique patient with thanatophoric dysplasia and a double de novo FGFR3 mutation, located on the same allele, (c.[1620C>A;1454A>G]), which corresponds to p.[N540K;Q485R].
|
19449430 |
2009 |
|
rs121913485
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A missense mutation (tyrosine 373 to cysteine) was detected, and was diagnosed as TD type I.
|
18987480 |
2008 |
|
rs121913479
|
|
|
0.010 |
GeneticVariation |
BEFREE |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |