|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Rapid detection of de novo P253R mutation in FGFR2 using uncultured amniocytes in a pregnancy affected by polyhydramnios, Blake's pouch cyst, and Apert syndrome.
|
23915865 |
2013 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.
|
9002682 |
1997 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The cause of Apert syndrome is a single nucleotide substitution mutation (S252W or P253R) in fibroblast growth factor receptor 2 (FGFR2).
|
30251381 |
2018 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The pathogenesis of Apert syndrome resulting from P253R mutation of FGFR2 is still not fully understood.
|
18242159 |
2008 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Unlike the majority of FGFR2 mutations, S252W and P253R AS mutations and a D321A PS mutation retain ligand-dependency and are also associated with severe limb pathology.
|
15282208 |
2004 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg).
|
10541159 |
1999 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The arginine residue at position 253 in the linker region between the Ig-like domains D2 and D3 in the wild type fly and worm sequences is particularly striking, as the Pro253Arg mutation in humans is responsible for Apert syndrome.
|
11457455 |
2001 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
|
9452027 |
1998 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
|
15190072 |
2004 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome.
|
9002682 |
1997 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
|
11390973 |
2001 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
BEFREE |
The observation that the Ser252Phe mutation causes Apert syndrome, whereas the other single or double substitutions are associated with milder or normal phenotypes, highlights the exquisitely specific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrome.
|
9002682 |
1997 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
rs121918498
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
rs79184941
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Analysis of DNA from 70 unrelated patients with Apert syndrome showed that 45 had the Ser252Trp mutation and 25 had the Pro253Arg mutation.
|
8651276 |
1996 |
|
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
|
24489893 |
2014 |
|
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
|
rs79184941
|
|
|
0.800 |
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
|
|
|
0.800 |
GeneticVariation |
BEFREE |
These results show that the S252W mutation in the FGFR2 gene enhances the osteoblast phenotype in human osteoblasts and that a soluble FGFR2 with the S252W mutation controls osteoblast differentiation induced by the S252W mutation through a dominant negative effect on FGFR2 signaling in Apert syndrome.
|
15310757 |
2004 |
|
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two nucleotide substitutions in the human FGFR2 gene (C755G or C758G) are responsible for virtually all sporadic cases of Apert syndrome.
|
18632557 |
2008 |
|
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the osteogenic potential of AS periosteal cells (p.Ser252Trp mutation) and observed that these cells are more committed toward the osteoblast lineage.
|
17622301 |
2007 |
|
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Apert syndrome is a monogenic human disorder in which cleft palate has been significantly correlated to the fibroblast growth factor receptor (FGFR) 2-Ser252Trp mutation.
|
12019011 |
2002 |