|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
This study demonstrated that statins had an influence on Ihh, and that the hyperfunction of Ihh may prevent premature cell death caused by FGFR3-related chondrodysplasia through an indirect increase in the expression of PTHrP.
|
31327238 |
2019 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore the statin-mediated rescue of FGFR3-related chondrodysplasia, described before, is likely not intrinsic to the growth plate cartilage.
|
28583899 |
2017 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant mutations in fibroblast growth factor receptor 3 (FGFR3) cause achondroplasia (Ach), the most common form of dwarfism in humans, and related chondrodysplasia syndromes that include hypochondroplasia (Hch), severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD).
|
27987249 |
2017 |
|
Chondrodysplasia
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Mutations that cause increased and/or inappropriate activation of FGFR3 are responsible for a collection of short-limbed chondrodysplasias.
|
27506979 |
2016 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in the FGFR3 gene result in chondrodysplasias which include achondroplasia (ACH), the most common form of dwarfism, in which skull, appendicular and axial skeletons are affected.
|
26684019 |
2016 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)].
|
24863959 |
2015 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FGFR3 gain-of-function mutations lead to both chondrodysplasias and craniosynostoses.
|
24419316 |
2014 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since both Sox9 overexpression and β-catenin deletion independently blocks hypertrophic differentiation of chondrocytes and cause chondrodysplasias similar to those caused by mutations in FGFR3, our results suggest that dysregulation of Sox9 and β-catenin levels and activity in growth plate chondrocytes is an important underlying mechanism in skeletal diseases caused by mutations in FGFR3.
|
22843502 |
2012 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In order to gain further insight into bone formation, bone development was studied in a murine model of chondrodysplasia (Fgfr3(Y367C/+)) from birth to 6weeks of age.
|
20673820 |
2010 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this patient with thanatophoric dysplasia, we conclude that the presence of the double FGFR3 missense mutation on the same allele alters the receptor structure, holding the receptor in its fully activated state, thus leading to lethal chondrodysplasia.
|
19449430 |
2009 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
New insight on FGFR3-related chondrodysplasias molecular physiopathology revealed by human chondrocyte gene expression profiling.
|
19898608 |
2009 |
|
Chondrodysplasia
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Based on these data, we concluded that sustained phosphorylation of FGFR3 causes chondrodysplasia, and the phenotypic severity depends on the proportion of ER-localized mutant FGFR3.
|
17561467 |
2007 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
This model will be useful for the study of FGFR3 function in cartilage studies and future therapeutic approaches in chondrodysplasias.
|
17507011 |
2007 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Overexpression of FGFR3, Stat1, Stat5 and p21Cip1 correlates with phenotypic severity and defective chondrocyte differentiation in FGFR3-related chondrodysplasias.
|
14751560 |
2004 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene are responsible for several autosomal dominant craniosynostosis syndromes and chondrodysplasias i.e. hypochondroplasia, achondroplasia, SADDAN and thanatophoric dysplasia--a neonatal lethal dwarfism syndrome.
|
12461689 |
2002 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A comparison of genetic maps between bovine Chr 6 and human Chr 4 or mouse Chr 5 indicates possible candidate genes including FGFR3 and BMP3 genes, which are responsible for human chondrodysplasias and associated with bone morphogenesis, respectively.
|
10341093 |
1999 |
|
Chondrodysplasia
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 and the human chondrodysplasias.
|
9300204 |
1997 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor receptor FGFR3 (ref.1).
|
9069288 |
1997 |
|
Chondrodysplasia
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia, the most common form of chondrodysplasia, has been associated with mutations in the gene of the fibroblast growth factor receptor-3 (FGFR-3) on chromosome 4p.
|
7758520 |
1995 |