|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The result was consistent with a K650E mutation in FGFR3 and TD2.
|
29458880 |
2018 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
|
24075385 |
2013 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis.
|
23972473 |
2013 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the mutant receptor caused a block in chondrocyte differentiation specifically at the prehypertrophic stage.
|
22843502 |
2012 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII).
|
12624096 |
2003 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]).
|
11055896 |
2000 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).
|
8754806 |
1996 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
BEFREE |
Thanatophoric dysplasia type II (TDII) is a neonatal lethal skeletal dysplasia caused by a recurrent Lys-650-->Glu mutation within the highly conserved activation loop of the kinase domain of fibroblast growth factor receptor 3 (FGFR3).
|
8754806 |
1996 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
GeneticVariation
|
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
|
Thanatophoric dysplasia, type 2
|
|
0.890 |
CausalMutation
|
CLINVAR |
|
|
|
|
Malignant neoplasm of urinary bladder
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Loss of heterozygosity at 4p16.3 and mutation of FGFR3 in transitional cell carcinoma.
|
11314002 |
2001 |
|
Malignant neoplasm of urinary bladder
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas.
|
10471491 |
1999 |
|
Malignant neoplasm of urinary bladder
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Cell apoptosis assays were performed in a plasmacytoma cell line, FR4 cells and a myeloma cell line, RPMI8226 cells overexpressing wild-type FGFR3 (FGFR3(WT)) or two different mutants, FGFR3(K650E) or FGFR3(Y373C), and the induction of endoplasmic reticulum (ER) stress protein was compared between each type of cell.
|
21273588 |
2011 |
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Since cell lines may represent useful models for investigating the effects of deregulated FGFR3 mutants in MM, we analysed the expression, activation, signaling pathways and oncogenic potential of three mutants identified so far: the Y373C and K650E in the KMS-11 and OPM-2 cell lines respectively, and the novel G384D mutation here identified in the KMS-18 cell line.
|
11429702 |
2001 |
|
Multiple Myeloma
|
|
0.730 |
GeneticVariation
|
BEFREE |
Mutation of Lys650-->Glu in the activation loop of the FGFR3 kinase domain causes the lethal human skeletal disorder thanatophoric dysplasia type II (TDII) and is also found in patients with multiple myeloma, bladder and cervical carcinomas.
|
10918587 |
2000 |
|
Multiple Myeloma
|
|
0.730 |
CausalMutation
|
CLINVAR |
|
|
|
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
Craniosynostosis
|
|
0.720 |
CausalMutation
|
CLINVAR |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
|
20453470 |
2010 |
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
BEFREE |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |
|
Acanthosis Nigricans
|
|
0.720 |
GeneticVariation
|
CLINVAR |
Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.
|
18000903 |
2007 |