|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
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 |
Achondroplasia (ACH), thanatophoric dysplasia (TD) types I and II, hypochondroplasia (HCH), and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN) are all due to activating mutations in the fibroblast growth factor receptor 3 (FGFR3) gene.
|
20034074 |
2010 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Achondroplasia is a heterozygous disorder, and thus the affected individuals express both wild-type and mutant FGFR3.
|
21324899 |
2011 |
|
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 |
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 |
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
|
9001669 |
1996 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) seems to play an inhibitory role in bone development, as activating mutations in the gene underlie disorders such as achondroplasia and thanatophoric dysplasia.
|
11904459 |
2001 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fibroblast growth factor receptor-3 as a therapeutic target for Achondroplasia--genetic short limbed dwarfism.
|
12816345 |
2003 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FGFR3 germline mutations cause autosomal dominant skeletal disorders including achondroplasia, thanatophoric dysplasia, severe achondroplasia with developmental delay and acanthosis nigricans, and Crouzon syndrome.
|
16778799 |
2006 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) is a key regulator of growth and differentiation, whose aberrant activation causes a number of genetic diseases including achondroplasia and cancer.
|
21487019 |
2011 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast Growth Factor Receptor 3 (FGFR3) related skeletal dysplasias are caused by mutations in the FGFR3 gene that result in increased activation of the receptors causing alterations in the process of endochondral ossification in all long bones, and include achondroplasia, hypochondroplasia, thanatophoric dysplasia, and SADDAN.
|
21910223 |
2011 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
BEFREE |
FGFR3 targeting strategies for achondroplasia.
|
22559284 |
2012 |
|
Achondroplasia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
FGFR3 is a negative regulator of chondrogenesis and multiple mutations with constitutive activity of FGFR3 result in achondroplasia, one of the most common dwarfisms in humans, but the molecular mechanism remains elusive.
|
24657641 |
2014 |
|
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 |
A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene.
|
27370225 |
2016 |
|
Achondroplasia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.
|
7702086 |
1995 |
|
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 |
BEFREE |
A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study.
|
26377240 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
MGD |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
Achondroplasia
|
1.000 |
Biomarker
|
disease |
CLINGEN |
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3.
|
10200283 |
1999 |
|
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 |
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 |