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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
|
11121055 |
2000 |
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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.
|
14499350 |
2003 |
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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
rs79184941
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.
|
24489893 |
2014 |
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 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
|
23546041 |
2013 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
This report demonstrates monozygotic twins affected by Apert syndrome with both boys having the Ser252Trp mutation.
|
18215098 |
2008 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Taking advantage of Apert syndrome mouse models, we performed a novel combination of morphometric, histological and immunohistochemical analyses to precisely quantify distinct palatal phenotypes in Fgfr2(+/S252W) and Fgfr2(+/P253R) mice.
|
23519026 |
2013 |
rs79184941
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.
|
23546041 |
2013 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
C>G transversions at position 755 of FGF receptor 2 (FGFR2) cause Apert syndrome; this mutation, encoding the gain-of-function substitution Ser252Trp, occurs with a birth rate elevated 200- to 800-fold above background and originates exclusively from the unaffected father.
|
15840724 |
2005 |
rs79184941
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.
|
11390973 |
2001 |
rs79184941
|
|
|
0.800 |
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 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our study is the first report from Indian subcontinent to show the prevalence of S252W mutation among Apert syndrome patients from Indian origin.
|
16951439 |
2006 |
rs79184941
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
rs79184941
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.
|
11390973 |
2001 |