Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic screening ruled out FBN1, TGFBR2, and the known craniosynostosis hotspots (FGFR2 exon 8 and exon 10 and FGFR3 exon 6) as the cause.
|
22871183 |
2013 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
SNP Microarray was otherwise normal and the patient did not have common mutations in FGFR2, FGFR3, or TWIST associated with craniosynostosis.
|
23239640 |
2013 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Fgfr2+/Y394C mice exhibited epidermal hyperplasia and premature closure of cranial sutures (craniosynostosis) due to abnormal cell proliferation and differentiation.
|
22585574 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies.
|
22872262 |
2012 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Perhaps increased FGFR2 activation during this embryonic period leads to abnormal differentiation or regression of the tail bud and, in turn, sacrococcygeal eversion, in certain patients with severe syndromic craniosynostosis.
|
22661218 |
2012 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
|
22387015 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Gain-of-function mutations in FGFR2 cause Apert syndrome (AS), a disease characterized by craniosynostosis and limb bone defects both due to abnormalities in bone differentiation and remodeling.
|
22048896 |
2012 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Central nervous system malformations and deformations in FGFR2-related craniosynostosis.
|
22987770 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we reported and functionally analyzed a novel mutation of the FGFR2 gene found in a craniosynostosis patient, E731K.
|
21928350 |
2012 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In 1996, two mutations in the fibroblast growth factor receptor 2 gene were found to cause this syndrome, thereby including BSS in the fibroblast growth factor receptor gene-related craniosynostosis spectrum.
|
21397175 |
2011 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have used microarray analysis to investigate the signaling pathways that are activated by FGFR2 mutations in Apert craniosynostosis.
|
20124286 |
2010 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first large FGFR2 deletion described in any individual with craniosynostosis.
|
18726952 |
2009 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome is 1 of the 5 craniosynostosis syndromes that shore clinical features and are caused by allelic mutations in the fibroblast growth factor receptor 2 (FGFR2) gene.
|
19186770 |
2009 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The majority of the mutations identified are identical to germline mutations in FGFR2 and FGFR3 that cause craniosynostosis and hypochondroplasia syndromes and result in both ligand-independent and ligand-dependent receptor activation.
|
19243295 |
2009 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Roles of FGFR2 and twist in human craniosynostosis: insights from genetic mutations in cranial osteoblasts.
|
18391499 |
2008 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
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 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Syndromic craniosynostoses (Saethre-Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that characterize these syndromes.
|
17882438 |
2007 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.
|
17803937 |
2007 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Frequent activating FGFR2 mutations in endometrial carcinomas parallel germline mutations associated with craniosynostosis and skeletal dysplasia syndromes.
|
17525745 |
2007 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Prolongation of the auditory brainstem response I-to-III interpeak latency was a frequent characteristic of fibroblast growth factor receptor 2 craniosynostosis, occurring in 91% of our patients.
|
17515438 |
2007 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Somatic FGFR and TWIST mutations are not a common cause of isolated nonsyndromic single suture craniosynostosis.
|
17414280 |
2007 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
CTD_human |
Syndromic craniosynostosis with elbow joint contracture.
|
16465081 |
2006 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion.
|
16955501 |
2006 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |