Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin.
|
16841094 |
2006 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Given the homogeneity of mutations within the fibroblast growth factor receptor 3 (FGFR3) gene in the vast majority of patients with Ach, FGFR3 mutational analysis can be offered in every instance where a short-limb disorder is ultrasonographically detected in the latter stages of pregnancy.
|
8809893 |
1996 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel non-invasive detection method for the FGFR3 gene mutation in maternal plasma for a fetal achondroplasia diagnosis based on signal amplification by hemin-MOFs/PtNPs.
|
27836589 |
2017 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes.
|
7913883 |
1994 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most reported mutations in the FGFR3 gene are dominant activating mutations that cause a variety of short-limbed bone dysplasias including achondroplasia and syndromic craniosynostosis.
|
24864036 |
2014 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations causing achondroplasia are in FGFR3, suggesting that mutations in this gene may cause TD.
|
7773297 |
1995 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3.
|
9811582 |
1998 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
Evaluation of the therapeutic potential of a CNP analog in a Fgfr3 mouse model recapitulating achondroplasia.
|
23200862 |
2012 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Instead, the phosphorylation efficiency within un-liganded FGFR3 dimers is increased, and this increase is likely the underlying cause for pathogenesis in achondroplasia.
|
22529939 |
2012 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations within fibroblast growth factor receptor 3 (FGFR3), a receptor tyrosine kinase, are responsible for human skeletal dysplasias including achondroplasia and the neonatal lethal syndromes, Thanatophoric Dysplasia (TD) type I and II.
|
18794123 |
2008 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
These results suggest that the molecular basis of achondroplasia is unregulated signal transduction through FGFR3, which may result in inappropriate cartilage growth plate differentiation and thus abnormal long bone development.
|
8599935 |
1996 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, we demonstrate preferential elimination of the dominant-negative FGFR3 c.1138G>A allele in fibroblasts of an individual affected by achondroplasia.
|
26686765 |
2016 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, a G380R mutation in FGFR3 (FGFR3(Ach)), which results in achondroplasia, induces apoptosis in the chondrogenic cell line ATDC5.
|
17466614 |
2007 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A multiplex PCR system encompassing five mutation hotspots in the FGFR3 gene allowed us to efficiently identify the responsible mutation in cell-free DNA in all examined pregnancies with a suspected thanatophoric dysplasia or achondroplasia fetus.
|
29542187 |
2019 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Compared with RFLP-PCR, HRM analysis provided a more rapid, simpler, and less expensive approach for detecting the most common FGFR3 mutations carried by patients with ACH.
|
22339077 |
2012 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genomic DNA from 154 unrelated individuals with achondroplasia was evaluated for mutations in the fibroblast growth factor receptor 3 (FGFR3) transmembrane domain.
|
7847369 |
1995 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Down syndrome and achondroplasia were confirmed by karyotyping and presence of a common fibroblast growth factor receptor 3 mutation (Gly380Arg), respectively.
|
18196933 |
2008 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This work reveals new information about the molecular events that underlie the achondroplasia phenotype, and highlights differences in FGFR3 activation due to different single amino-acid pathogenic mutations.
|
27040652 |
2016 |
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 |
BEFREE |
Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.
|
8682509 |
1996 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A regulation that occurs mainly in the mesomelic segments, a region where SHOX is known to be strongly expressed, offers a possible explanation for the phenotypes seen in patients with FGFR3 (e.g. achondroplasia) and SHOX defects (e.g.Léri-Weill dyschondrosteosis).
|
22946287 |
2012 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH).
|
22045636 |
2012 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, an infant with achondroplasia and a novel p.Ser348Cys FGFR3 mutation was reported.
|
28181399 |
2017 |