|
Thanatophoric dysplasia, type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Here, we investigated the impact of SADDAN-FGFR3 and TDII-FGFR3 signalling on cytoskeletal organization.
|
29242050 |
2018 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The result was consistent with a K650E mutation in FGFR3 and TD2.
|
29458880 |
2018 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using a mouse model of Thanatophoric Dysplasia Type II (TDII) we show that both HDAC6 deletion and treatment with the small molecule HDAC6 inhibitor tubacin reduced FGFR3 accumulation in the growth plate and improved endochondral bone growth.
|
27506979 |
2016 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
A molecular analysis of FGFR3 using uncultured amniocytes is useful for the rapid confirmation of TD2 at prenatal diagnosis.
|
24075385 |
2013 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia.
|
18485666 |
2008 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
In addition, it shows that both wild type and TDII FGFR3 interact with the mannose-specific lectin ERGIC-53.
|
18577465 |
2008 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mature, fully glycosylated 130-kDa forms, detected in wild type FGFR3, are not present in TDII.
|
12624096 |
2003 |
|
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 2
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
GeneticVariation
|
disease |
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
|
0.800 |
Biomarker
|
disease |
BEFREE |
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 |
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 |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
|
7647778 |
1995 |
|
Thanatophoric dysplasia, type 2
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|