|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A recurrent glycine to arginine mutation at codon 380 (G380R) in the transmembrane domain of the fibroblast growth factor receptor 3 gene was found to cause achondroplasia among different populations.
|
10979354 |
2000 |
|
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 |
Biomarker
|
disease |
MGD |
A Ser(365)-->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia.
|
11181569 |
2001 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
A variety of genes have been reported for SS, among which FGFR-3 was the main gene in achondroplasia and hypochondroplasia.
|
31177591 |
2019 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
|
19622626 |
2009 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Acanthosis nigricans in a boy with achondroplasia due to the classical Gly380Arg mutation in FGFR3.
|
15517832 |
2004 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Achondroplasia in Turkey is defined by recurrent G380R mutation of the FGFR3 gene.
|
12921294 |
2003 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Activated FGFR3 prevents subchondral bone sclerosis during the development of osteoarthritis in transgenic mice with achondroplasia.
|
28520086 |
2018 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in FGFR3 cause achondroplasia and thanatophoric dysplasia, the most common human skeletal dysplasias.
|
18923003 |
2009 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of the FGFR3 gene lead to craniosynostosis and multiple types of skeletal dysplasia with varying degrees of severity: thanatophoric dysplasia (TD), achondroplasia and hypochondroplasia.
|
19898608 |
2009 |
|
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 |
Adjusting for confounders, we found major associations between age and the frequencies of sperm with DFI and fibroblast growth factor receptor 3 gene (FGFR3) mutations associated with achondroplasia (P < 0.01) with no evidence for age thresholds.
|
16766665 |
2006 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes.
|
15241680 |
2004 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An improved tetra-primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia.
|
17683901 |
2008 |
|
Achondroplasia
|
1.000 |
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 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
LHGDN |
Clinical and molecular characteristics of Thai patients with achondroplasia.
|
11556601 |
2001 |
|
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 |
Concomitantly, we analyzed the phenotype of Fgfr3(Y367C/+) mice and showed the presence of ACH-related clinical features in this mouse model.
|
23200862 |
2012 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Constitutively-active FGFR3 disrupts primary cilium length and IFT20 trafficking in various chondrocyte models of achondroplasia.
|
29040558 |
2018 |
|
Achondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Contrasts between the skeletal phenotype and achondroplasia suggest that activation of FGFR3 causes achondroplasia.
|
8630492 |
1996 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Defective lysosomal targeting of activated fibroblast growth factor receptor 3 in achondroplasia.
|
14699054 |
2004 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.
|
20673820 |
2010 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
DNA studies revealed point mutations in the FGFR3 gene in ACH heterozygotes and homozygotes.
|
7913883 |
1994 |