Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A 20-gene panel was designed based on the genes' association with craniosynostosis, and clinically validated through retrospective testing of an Australian and New Zealand cohort of 233 individuals with craniosynostosis in whom previous testing had not identified a causative variant within FGFR1-3 hot-spot regions or the TWIST1 gene.
|
29215649 |
2018 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genes related to the pathogenesis of the craniosynostoses itself are those encoding transcription factors, e.g., TWIST1, MSX2, EN1, and ZIC1, and proteins involved in osteogenic proliferation, differentiation, and homeostasis, such as FGFR1, FGFR2, RUNX2, POR, and many others.
|
29392564 |
2018 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
|
27683237 |
2017 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FGFR1 genes affect skull development, specifically suture and synchondrosis, resulting in craniosynostosis and facial abnormalities.
|
28129408 |
2017 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
FGFR1 mutations have also been identified in more severe craniosynostosis syndromes, and a subset of craniosynostosis syndromes-associated FGFR1 mutations show dominant negative effect.
|
28411082 |
2017 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
fibroblast growth factor receptor (FGFR) -related craniosynostosis syndromes are caused by many different mutations within FGFR-1, 2, 3, and certain FGFR mutations are associated with more than one clinical syndrome.
|
24578066 |
2014 |
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 |
GENOMICS_ENGLAND |
Mutations that cause osteoglophonic dysplasia define novel roles for FGFR1 in bone elongation.
|
15625620 |
2005 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We establish here that loss-of-function mutations in FGFR1 underlie KAL2 whereas a gain-of-function mutation in FGFR1 has been shown to cause a form of craniosynostosis.
|
12627230 |
2003 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Both individuals were screened for mutations in fibroblast growth factor receptor 1, 2, 3 and TWIST genes, all associated with various types of craniosynostosis and no mutations were identified.
|
12244552 |
2002 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome is a classic form of craniosynostosis that is caused by a proline-->arginine substitution at amino acid 252 (Pro252Arg) in fibroblast growth factor receptor 1 (FGFR1).
|
10942429 |
2000 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We provide linkage evidence using intragenic and flanking microsatellite markers suggesting that the disease in this family was not caused by a mutation in one of the known craniosynostosis loci (FGFR1, FGFR2, FGFR3, MSX2, TWIST).
|
11074486 |
2000 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FGFR1-FGFR3 and TWIST genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency.
|
10751173 |
2000 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the fibroblast growth factor receptor 1, 2 and 3 (FGFR1, -2 and -3) and TWIST genes have been identified in several syndromic forms of craniosynostosis.
|
10951518 |
2000 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
All except one of these cases carried no mutations in the FGFR1-3 domains indicated as hot spots for craniosynostosis-associated mutations.
|
10447608 |
1999 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pfeiffer syndrome (PS) is one of the classical craniosynostosis syndromes correlated with specific mutations in the human fibroblast growth factor receptor (FGFR) genes, FGFR1 and FGFR2.
|
10394936 |
1999 |
Craniosynostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities.
|
7719345 |
1995 |
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Craniosynostosis
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|