|
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 |
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 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
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
|
|
C |
0.900 |
CausalMutation |
CLINVAR |
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 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs77543610
|
|
|
0.900 |
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 |
|
rs77543610
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
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 |
|
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 |
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 |
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
|
11390973 |
2001 |
|
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 |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
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 |
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
|
|
AA |
0.810 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs121918498
|
|
AA |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
|
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
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
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 |
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
|
|
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 |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |