|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a female case of thanatophoric dysplasia type I (TD1) with FGFR3 mutation.
|
23551494 |
2013 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
When the results of the FGFR3 thanatophoric dysplasia mutations located in exon 7, A248C and S249C and in exon 10, G372C and T375C, were analyzed one by one or as a group, despite the findings of previous research reports, our data suggest that these mutations are detected homogenously regardless of the tumor classification and tumor grade.
|
21264819 |
2011 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptor 3 (FGFR3) gain-of-function mutations cause dwarfisms, including achondroplasia (ACH) and thanatophoric dysplasia (TD).
|
29040558 |
2018 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Activating mutations in FGFR3 cause the most common forms of human dwarfism: achondroplasia and thanatophoric dysplasia.
|
20922792 |
2011 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The mutant FGFR3 genes causing ACH and thanatophoric dysplasia (TD), which is a more severe neonatal lethal form, were introduced into a chondrogenic cell line, ATDC5.
|
12929929 |
2003 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report two patients with clinical and radiological findings of achondroplasia, who had the most common FGFR3 mutation occurring in thanatophoric dysplasia type I and hypochondroplasia, respectively.
|
11754059 |
2001 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.
|
9438390 |
1998 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report a patient who has the missense FGFR3 mutation, Lys650Met, previously reported in association only with SADDAN, who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2) in addition to those findings characteristic of SADDAN.
|
25119967 |
2015 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is now shown that myeloma cells carrying a t(4;14) translocation express a functional FGFR3 that in some cases is constitutively activated by the same mutations that cause thanatophoric dysplasia.
|
11157491 |
2001 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To date, no insertions or deletions in FGFR3 have been reported to cause thanatophoric dysplasia types 1 or 2; therefore, this represents the first report to describe such a mutation.
|
27028100 |
2016 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fibroblast growth factor receptors 3 (FGFR3) with K644M/E substitutions are associated to the severe skeletal dysplasias: severe achondroplasia with developmental delay and achanthosis nigricans(SADDAN) and thanatophoric dysplasia(TDII).
|
16476447 |
2006 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Acanthosis nigricans (AN) has been reported in association with severe skeletal dysplasias due to activating mutations in FGFR3, including thanatophoric dysplasia, severe achondroplasia (ACH) with developmental delay and AN (SADDAN syndrome), and Crouzon syndrome with AN.
|
19622626 |
2009 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI).
|
12833394 |
2003 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
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 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 was found in 16 of 16 individuals with one type of TD.
|
7773297 |
1995 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we report a missense mutation in the FGFR3 gene in a Japanese patient with TD.
|
9790257 |
1998 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.
|
9790257 |
1998 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations of the FGF receptor 3 (FGFR3) cause autosomal dominant skeletal disorders such as achondroplasia and thanatophoric dysplasia, which can be associated with acanthosis nigricans of the skin.
|
16841094 |
2006 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Specific mutations in the FGFR3 gene are associated with autosomal dominant human skeletal disorders such as hypochondroplasia, achondroplasia, and thanatophoric dysplasia.
|
11015576 |
2000 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia.
|
9887329 |
1999 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.
|
27450648 |
2016 |
|
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |