Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our results extended the mutational spectrum of FGFR3 and proved that applications of NGS and bioinformatics are effective methods for skeletal dysplasia diagnosis in clinical practices.
|
23726269 |
2013 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The regions analysed encompassed all FGFR3 point mutations previously described in severe skeletal dysplasia and cancers.
|
11526491 |
2001 |
Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
In this review, we describe the mechanisms of potential therapeutic targets and underlying regulators and then systematically review molecular therapeutic strategies for FGFR3 gene-related skeletal dysplasia based on current knowledge.
|
29063142 |
2017 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Activating FGFR3 germline mutations cause skeletal dysplasia and craniosynostosis syndromes.
|
17172848 |
2006 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We describe the first case of protein-losing enteropathy in a pediatric patient, with severe skeletal dysplasia consistent with thanatophoric dysplasia type I and DNA analysis that revealed a c.1949A>T (p.Lys650Met) in exon 15 of the FGFR3 gene.
|
27214123 |
2016 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
|
25119967 |
2015 |
Skeletal dysplasia
|
0.200 |
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 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia.
|
11055896 |
2000 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our results extend the genetic mutation spectrum of FGFR3 and demonstrate that TES is an effective method for the diagnosis of skeletal dysplasia in clinical practices.
|
29080836 |
2018 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia.
|
12833394 |
2003 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience : prenatal diagnosis in FGFR3 gene.
|
19789973 |
2009 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.
|
28230213 |
2017 |
Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
|
19088846 |
2008 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A large proportion of these tumors (39%) harbored somatic activating FGFR3 mutations, identical to those associated with skeletal dysplasia syndromes and bladder and cervical neoplasms.
|
15772091 |
2005 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have identified a novel fibroblast growth factor receptor 3 (FGFR3) missense mutation in four unrelated individuals with skeletal dysplasia that approaches the severity observed in thanatophoric dysplasia type I (TD1).
|
10053006 |
1999 |
Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Here we present one familial and 16 sporadic cases with FGFR3 related skeletal dysplasia, and we evaluate biometric parameters and U/S findings consistent with the diagnosis of skeletal dysplasia.
|
21910223 |
2011 |
Skeletal dysplasia
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
The pathology of small hypertrophic chondrocytes due to up-regulated FGFR3 signaling in FGFR3 skeletal dysplasia was recapitulated in growth plate cartilage formed in the xenografts of patient-specific hiPSC-derived cartilage.
|
30086379 |
2018 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations of FGFR3 also result in other forms of skeletal dysplasia and craniosynostosis.
|
22145492 |
2011 |
Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
Thus, this study identifies a novel inhibitory peptide for FGFR3 signaling, which may serve as a potential therapeutic agent for the treatment of FGFR3-related skeletal dysplasia.
|
23014564 |
2012 |
Skeletal dysplasia
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our case shows that FGFR3 mutation analysis should be considered in case of the coexistence of acanthosis nigricans and a skeletal dysplasia.
|
20453470 |
2010 |
Skeletal dysplasia
|
0.200 |
Biomarker
|
disease |
BEFREE |
To explore the feasibility and accuracy of a noninvasive prenatal test for fibroblast growth factor receptor 3 (FGFR3)-related skeletal dysplasia based on next-generation sequencing (NGS) of plasma cell-free DNA.
|
30048571 |
2018 |
Skeletal dysplasia
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
|
|
|