Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
All of the patients had at least one mutation in the FGFR2 gene; five of those mutations have already been reported elsewhere, while one mutation is novel and was hypothesized to lead to Apert syndrome.
|
21928350 |
2012 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.
|
7668257 |
1995 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.
|
9521581 |
1998 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.
|
10394936 |
1999 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.
|
22105374 |
2012 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
|
29037998 |
2018 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two common mutations in the exon IIIa of fibroblast growth factor receptor 2 account for majority of the cases of Apert syndrome.
|
16951439 |
2006 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.
|
28123344 |
2017 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.
|
24578066 |
2014 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
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 |
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome results almost exclusively from one of two point mutations (Ser252Trp or Pro253Arg) in fibroblast growth factor receptor 2.
|
18215098 |
2008 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2.
|
17622301 |
2007 |
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 |
GeneticVariation
|
disease |
BEFREE |
Here we describe two novel mutations in FGFR2 in the two patients in whom a mutation had not previously been found in our cohort of 227 AS cases.
|
18726952 |
2009 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
|
9700203 |
1998 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results are not unexpected, because the two common mutations for Apert syndrome alter FGFR2 at adjacent amino acids that are likely to have similar biological, and therefore phenotypic, consequences.
|
7668257 |
1995 |
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 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We examine late embryonic skull development and suture patency in Fgfr2 Apert syndrome mice between embryonic day 17.5 and birth and quantify the effects of these mutations on 3D skull morphology, suture patency and growth.
|
24580805 |
2014 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
With the Apert syndrome mouse model (Ap mouse), we investigated the role of FGFR2 in SMGs and analyzed the SMG pathology of Apert syndrome.
|
30251381 |
2018 |