|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The most common mutation for achondroplasia (FGFR3 Gly380Arg, resulting in 1138G>A) was identified.
|
21739570 |
2011 |
|
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 |
Three distinct 1-bp polymorphisms were identified in the FGFR3 gene, within close proximity to the achondroplasia mutation site.
|
9718331 |
1998 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Within the past year, the achondroplasia locus has been mapped to 4p 16.3 (refs 5-7) and mutations in the fibroblast growth factor receptor 3 (FGFR3) gene have been identified in patients with the disorder.
|
7670477 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-G374R mutation in achondroplasia in mice.
|
30487289 |
2019 |
|
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 |
The vast majority of patients with achondroplasia have a G-to-A transition at position 1138 of the fibroblast growth factor receptor 3 (FGFR3) cDNA sequence, resulting in the Gly-to-Arg substitution at position 380 of the FGFR3 protein.
|
16434832 |
2006 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The phenotype of heterozygous biallelic mutations in FGFR3 associated with ACH is variable, underscoring the importance of recognition and accurate diagnosis to ensure appropriate management.
|
30160829 |
2018 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We have examined the transmembrane domain of the FGFR-3 gene in seven Japanese patients with achondroplasia.
|
7649548 |
1995 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of skeletal growth and activating mutations in Fgfr3 cause achondroplasia, the most common genetic form of dwarfism in humans.
|
9811582 |
1998 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis.
|
15221641 |
2004 |
|
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 |
BEFREE |
Achondroplasia-hypochondroplasia (ACH-HCH) complex is caused by the presence of two different pathogenic variants in each allele of FGFR3 gene.
|
29681095 |
2018 |
|
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 |
Using our established techniques for single-cell ratiometric real-time calcium image analysis, we defined the nature of the basic fibroblast growth factor (bFGF)-induced calcium signal in human diploid fibroblasts, and, in blinded studies, have analyzed the bFGF-induced signals from 18 independent fibroblast cell lines, including multiple lines from patients with known mutant alleles of FGFR3 and syndromes of Ach or TD.
|
9158142 |
1997 |
|
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 |
Mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for six related skeletal dysplasia conditions: achondroplasia, hypochondroplasia, thanatophoric dysplasia types 1 and 2, SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans), and platyspondylic lethal skeletal dysplasia, San Diego type.
|
25119967 |
2015 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor.
|
11518810 |
2001 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We now report the linkage for the Ellis-van Creveld syndrome gene to markers on the distal short arm of human chromosome 4, with Zmax = 6.91 at theta = 0.02 for marker HOX7, in a region proximal to the FGFR3 gene responsible for the achondroplasia phenotype.
|
8661097 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
OBJECTIVE Achondroplasia (ACH) is the most common short-limbed skeletal dysplasia caused by gain-of-function mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
27767902 |
2017 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia and thanatophoric dysplasia are human chondrodysplasias caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
17507011 |
2007 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This mutation has been reported in two different patients and it is located in the Ig-III domain of the FGFR3 region near other mutations associated with ACH.
|
31048079 |
2020 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results demonstrate that the spectrum of FGFR3 mutations causing short-limb dwarfism is wider than originally recognised and emphasise the requirement for complete screening of the FGFR3 gene if appropriate genetic counselling is to be offered to patients with HCH or ACH lacking the most common mutations and their families.
|
16912704 |
2006 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We developed a quantitative fluorescent-polymerase chain reaction (QF-PCR) method suitable for detection of the FGFR3 mutation (G1138A) causing achondroplasia.
|
20963478 |
2011 |