|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis.
|
9107244 |
1997 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We report on a 3-year-old girl, from a 3-generation family with an FGFR3 Pro250Arg mutation, who in addition to craniosynostosis, had a laterality disorder and hepatoblastoma, following a pregnancy complicated by maternal insulin-dependent diabetes.
|
20707699 |
2010 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Combining 312 reported cases of Muenke syndrome with data from the nine NIH patients, we found that females with the Pro250Arg mutation were significantly more likely to be reported with craniosynostosis than males (P < 0.01).
|
18000976 |
2007 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Hydrocephalus without craniosynostosis in a patient with the p.Pro250Arg variant suggests that some patients with MS might present only this manifestation; to our knowledge, hydrocephalus has not been described as isolated feature in MS, so we propose to consider this feature as an expansion of the MS phenotype rather than an unrelated finding.
|
27568649 |
2016 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A unique Pro250Arg mutation in fibroblast growth factor receptor 3 (FGFR3) was recently found in patients with non-syndromic craniosynostosis.
|
10914960 |
2000 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
9279753 |
1997 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.
|
18818193 |
2009 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
New Zealand Maori family with the pro250arg fibroblast growth factor receptor 3 mutation associated with craniosynostosis.
|
11467490 |
2001 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Muenke syndrome, defined by heterozygosity for a Pro250Arg substitution in fibroblast growth factor receptor 3 (FGFR3), is the most common genetic cause of craniosynostosis in humans.
|
19086028 |
2009 |
|
rs4647924
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The Muenke syndrome mutation (FGFR3 (P250R)), which was discovered 15 years ago, represents the single most common craniosynostosis mutation.
|
22872265 |
2012 |
|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated.
|
9677066 |
1998 |
|
rs121913105
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
rs121918487
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |
|
rs776587763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
|
28849010 |
2017 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.
|
15282208 |
2004 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Here we investigate growth of the skull in two inbred mouse models each carrying one of two gain-of-function mutations in FGFR2 on neighboring amino acids (S252W and P253R) that in humans cause Apert syndrome, one of the most severe FGFR-related craniosynostosis syndromes.
|
24580805 |
2014 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2).
|
18242159 |
2008 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |
|
rs77543610
|
|
|
0.040 |
GeneticVariation |
BEFREE |
P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes.
|
10329600 |
1999 |
|
rs77543610
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2).
|
18242159 |
2008 |
|
rs77543610
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |