|
rs121918487
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |
|
rs776587763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
|
28849010 |
2017 |
|
rs121918487
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs776587763
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057520044
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs121918506
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs777169135
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1564919048
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Here we examine integration of brain and skull in two mouse models for craniosynostosis: one carrying the FGFR2c C342Y mutation associated with Pfeiffer and Crouzon syndromes and a mouse model carrying the FGFR2 S252W mutation, one of two mutations responsible for two-thirds of Apert syndrome cases.
|
28790902 |
2017 |
|
rs79184941
|
|
|
0.050 |
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
|
|
|
0.050 |
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
|
|
|
0.050 |
GeneticVariation |
BEFREE |
In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.
|
15282208 |
2004 |
|
rs79184941
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |
|
rs77543610
|
|
|
0.040 |
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 |
|
rs77543610
|
|
|
0.040 |
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 |
|
rs77543610
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point mutations (S252W and P253R) in the fibroblast growth factor receptor (FGFR) 2 that cause FGFR2 activation.
|
15310757 |
2004 |
|
rs77543610
|
|
|
0.040 |
GeneticVariation |
BEFREE |
P253R and nonsyndromic craniosynostosis osteoblasts showed a marked differentiated phenotype, characterized by high alkaline phosphatase activity, increased mineralization and expression of noncollagenous matrix proteins, associated with high expression and activation of protein kinase Calpha and protein kinase Cepsilon isoenzymes.
|
10329600 |
1999 |
|
rs121918504
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition, a recently identified ligand-dependent S252L/A315S double mutation in FGFR2 was shown to cause syndactyly in the absence of craniosynostosis.
|
15282208 |
2004 |
|
rs121918504
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A further test of this hypothesis is provided by a unique family segregating two FGFR2 mutations in cis (S252L; A315S), in which severe syndactyly occurs in the absence of the craniosynostosis that typically accompanies FGFR2 mutations.
|
12357470 |
2002 |
|
rs121918504
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
|
10951518 |
2000 |
|
rs121918501
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Several of the defects observed in the Fgfr2 (W290R) homozygous mouse mutant are attributable to a loss-of-function mechanism in contrast to the frequently reported gain-of-function receptor function associated with mutated FGF receptors in craniosynostosis.
|
22872266 |
2012 |
|
rs1224606327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
|
21928350 |
2012 |
|
rs761012674
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we report a novel mutation in exon 8 (IIIc) of FGFR3, p.Ala334Thr, in a young boy with mild craniosynostosis.
|
22038757 |
2011 |
|
rs765241522
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis.
|
22038757 |
2011 |