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 |
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 |
Optimizing CRISPR/Cas9 technology for precise correction of the Fgfr3-G374R mutation in achondroplasia in mice.
|
30487289 |
2019 |
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 |
AlteredExpression
|
disease |
BEFREE |
These morphological features were the same as those observed in CNP-KO mice and activated fibroblast growth factor receptor 3 achondroplasia-phenotype mice.
|
31120905 |
2019 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Muenke syndrome (MIM #602849), the most common syndromic craniosynostosis, results from the recurrent pathogenic p.P250R variant in FGFR3.
|
31111620 |
2019 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, we explored the transgenic model expressing mouse Fgfr3 containing the achondroplasia mutation G380R under the Col2 promoter (Ach).
|
29323153 |
2018 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <i>FGFR3-</i>Related Skeletal Dysplasias.
|
29170271 |
2018 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.
|
29360984 |
2018 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Three are perinates and show no macroscopic or radiological evidence for a FGFR3 mutation causing hypo-or achondroplasia.
|
29496218 |
2018 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that achondroplasia induces an uncommon metabolism of energy, directly linked to the FGFR3 mutation.
|
29652901 |
2018 |
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 |
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 |
Recently, an infant with achondroplasia and a novel p.Ser348Cys FGFR3 mutation was reported.
|
28181399 |
2017 |
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 |
Biomarker
|
disease |
BEFREE |
Heterozygous (FGFR3<sup>ACH/+</sup>) and homozygous (FGFR3<sup>ACH/ACH</sup>) mice expressing human FGFR3<sup>G380R</sup> recapitulate the phenotypes observed in ACH patients, including growth retardation, disproportionate shortening of the limbs, round head, mid-face hypoplasia at birth, and kyphosis progression during postnatal development.
|
28230213 |
2017 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia (ACH) is one of the most common short-limbed skeletal dysplasias caused by gain-of-function mutations in the fibroblast growth factor receptors 3 (FGFR3) gene.
|
28802681 |
2017 |
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 |
BEFREE |
Recently, gain-of-function mutations in the transmembrane domain of FGFR3 has been described associated with an aberrant negative regulation, leading to the development of achondroplasia-group disorders, including achondroplasia (ACH), hypochondroplasia (HCH) and thanatophoric dysplasia (TD).
|
28679403 |
2017 |
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
No effective FGFR3-targeted therapies for ACH are currently available.
|
28785080 |
2017 |
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PTH 1-34 Ameliorates the Osteopenia and Delayed Healing of Stabilized Tibia Fracture in Mice with Achondroplasia Resulting from Gain-Of-Function Mutation of FGFR3.
|
29104492 |
2017 |
Muenke Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We also identified an FGFR2 p.Ser252Leu mutation in a phenotypically normal father of a daughter with CS, and an FGFR3 p.Pro250Arg mutation in a mildly macrocephalic father of sisters with MS.
|
27683237 |
2017 |