|
rs981703846
|
|
|
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 |
|
rs981703846
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
|
10951518 |
2000 |
|
rs981703846
|
|
|
0.030 |
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 |
|
rs9658281
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two SNPs for NOS1 (rs1483757 and rs9658281) were significantly associated with CRS, with a protective effect.
|
21679499 |
2011 |
|
rs886043613
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs886043448
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our findings showed that c. 8030G>A of DNAH5 may be implicated as the disease-causing gene of CRS and PCD in this Chinese family, which may expand the understanding of clinicians on the pathogenesis of CRS.
|
24150548 |
2014 |
|
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 |
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 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 |
|
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 |
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 |
|
rs786200952
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features.
|
25728777 |
2015 |
|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Despite its location within the same FGFR3 codon as the thanatophoric dysplasia type II mutation (Lys650Glu) and a similar effect on constitutive activation of the FGFR3 tyrosine kinase, the Lys650Met is not associated with cloverleaf skull or craniosynostosis.
|
10377013 |
1999 |
|
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
|
21510009 |
2011 |
|
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.
|
11055896 |
2000 |
|
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
|
16912704 |
2006 |
|
rs78311289
|
|
C |
0.720 |
CausalMutation |
CLINVAR |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
|
20453470 |
2010 |
|
rs78311289
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Radiographically, all of the cases with the Lys650Glu substitution demonstrated straight femora with craniosynostosis, and frequently a cloverleaf skull (CS) was demonstrated.
|
9677066 |
1998 |
|
rs777169135
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs776587763
|
|
|
0.710 |
GeneticVariation |
BEFREE |
C278F mutation in FGFR2 gene causes two different types of syndromic craniosynostosis in two Chinese patients.
|
28849010 |
2017 |
|
rs776587763
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
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 |
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 |