|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
|
15190072 |
2004 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
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 |
|
rs77543610
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
|
11390973 |
2001 |
|
rs121918498
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
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
|
|
Apert syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
rs121918498
|
|
Apert syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |