|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.
|
11038465 |
2000 |
|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization.
|
25606676 |
2015 |
|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical and biochemical findings of a patient with thanatophoric dysplasia type I: additional finding of dicarboxylic aciduria.
|
11879084 |
2002 |
|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner.
|
19749790 |
2009 |
|
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
|
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage.
|
19088846 |
2008 |
|
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
|
24476948 |
2014 |
|
rs121913485
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation.
|
28249712 |
2017 |
|
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 |
|
rs121918487
|
|
G |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
|
rs121918488
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts.
|
10329600 |
1999 |
|
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
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 |
|
rs121918504
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A novel mutation, Ala315Ser, in FGFR2: a gene-environment interaction leading to craniosynostosis?
|
10951518 |
2000 |
|
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 |
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 |
|
rs121918506
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
|
rs12226919
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
|
rs12226920
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
|
rs1224606327
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Functional characterization of a novel FGFR2 mutation, E731K, in craniosynostosis.
|
21928350 |
2012 |
|
rs1276519904
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs12793173
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistical significance disappeared among Caucasians when stratified by gender, but persisted among African American women (p = 0.047). rs12188164 and rs12793173 were both more prevalent in African Americans with CRS than controls (p = 0.042 and p = 0.020, respectively).
|
28236359 |
2017 |
|
rs12883884
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A trend was also observed for decreased prevalence of rs12883884 in CRS patients compared with controls in the African American subgroup (p = 0.086).
|
28236359 |
2017 |
|
rs1318358361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The family provides a further example of genetic heterogeneity and variable expression of the craniosynostosis syndromes and broadens the phenotypic spectrum associated with the FGFR3 mutation P250R.
|
9279764 |
1997 |
|
rs13431828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Statistically significant allelic associations with CRS were noted for 5 SNPs (rs10204137, p = 0.04; rs10208293, p = 0.03; rs13431828, p = 0.008; rs2160203, p = 0.03, and rs4988957, p = 0.03).
|
19671251 |
2009 |