|
Apert syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Since our gene expression results suggested that novel signaling elicited by mutant FGFR2 might be associated with central nervous system (CNS) development and maintenance, we next investigated if DEGs found in AS cells were also altered in the CNS of an AS mouse model.
|
23593218 |
2013 |
|
Apert syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Here, we analyze the effect of the canonical AS mutations, the D321A PS mutation and the S252L/A315S double mutation on FGFR2 ligand binding affinity and specificity using surface plasmon resonance.
|
15282208 |
2004 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Ser252Trp [corrected] substitution in mouse fibroblast growth factor receptor 2 (Fgfr2) results in craniosynostosis.
|
14499350 |
2003 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
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 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.
|
18391498 |
2008 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Ocular anterior chamber dysgenesis in craniosynostosis syndromes with a fibroblast growth factor receptor 2 mutation.
|
10406670 |
1999 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
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 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
|
16418739 |
2006 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
p.Ser252Trp and p.Pro253Arg mutations in FGFR2 gene causing Apert syndrome: the first clinical and molecular report of Indonesian patients.
|
23546041 |
2013 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.
|
8946174 |
1996 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
|
11121055 |
2000 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
|
27683237 |
2017 |
|
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
To elucidate the mechanism by which these substitutions cause AS, we determined the crystal structures of these two FGFR2 mutants in complex with fibroblast growth factor 2 (FGF2).
|
11390973 |
2001 |
|
Apert syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Identification and characterization of an inhibitory fibroblast growth factor receptor 2 (FGFR2) molecule, up-regulated in an Apert Syndrome mouse model.
|
21355848 |
2011 |
|
Apert syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
These data suggest that the severe phenotypes of AS likely result from ectopic ligand-dependent activation of FGFR2.
|
11121055 |
2000 |
|
Apert syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during embryonic development, and the brain.
|
22872267 |
2012 |
|
Apert syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Contraction of the FGFR2-IgIIIa/c (BEK) expression domain in cases of Apert syndrome- and Pfeiffer syndrome-affected fetal cranial ossification suggests that the mutant activation of this receptor, by ligand-dependent or ligand-independent means, results in negative autoregulation.
|
11596961 |
2001 |
|
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Two specific mutations in the linking region between the second and third immunoglobulin domains of FGFR2 occur in Apert syndrome.
|
7655462 |
1995 |
|
Apert syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Results demonstrate that AAV9-Fgfr2-shRNA attenuated the premature closure of coronal suture and the decreased calvarial bone volume of AS mice.
|
30321816 |
2018 |
|
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Gain-of-function missense mutations in FGF receptor 2 (FGFR2) are responsible for a variety of craniosynostosis syndromes including Apert syndrome (AS), Pfeiffer syndrome (PS) and Crouzon syndrome (CS).
|
15282208 |
2004 |