Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Chemotherapy and radiotherapy do not increase levels of spontaneous FGFR2 mutations in sperm but, unexpectedly, highly-sterilizing treatments dramatically reduce the levels of the disease-associated c.755C > G (Apert syndrome) mutation in sperm.
|
31348830 |
2019 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Identification and analysis of the genetic causes in nine unrelated probands with syndromic craniosynostosis.
|
29037998 |
2018 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Results demonstrate that AAV9-Fgfr2-shRNA attenuated the premature closure of coronal suture and the decreased calvarial bone volume of AS mice.
|
30321816 |
2018 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
With the Apert syndrome mouse model (Ap mouse), we investigated the role of FGFR2 in SMGs and analyzed the SMG pathology of Apert syndrome.
|
30251381 |
2018 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report.
|
29868125 |
2018 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome.
|
28123344 |
2017 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have shown that gain-of-function mutations of FGFR2 (S252W or P253R) cause skull malformation of human Apert syndrome by affecting both chondrogenesis and osteogenesis, underscoring the key role of FGFR2 in bone development.
|
28650109 |
2017 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
|
28425981 |
2017 |
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
|
27683237 |
2017 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The Apert syndrome is a rare congenital disorder most often arising from S252W or P253R mutations in fibroblast growth factor receptor (FGFR2).
|
26613250 |
2016 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We also aimed to verify whether FGFR2 specificity loss due to AS mutations would change their signaling behavior.
|
27339175 |
2016 |
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Exon IIIa of FGFR2 from 6 AS patients was amplified by polymerase chain reaction.
|
25867380 |
2015 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm a strong correspondence between genotype and facial phenotype for AS and MS with severity of facial dysmorphology diminishing from Apert FGFR2(S252W) to Apert FGFR2(P253R) to MS. We show that AS facial shape variation is increased relative to CS, although CS has been shown to be caused by numerous distinct mutations within FGFRs and reduced dosage in ERF.
|
24578066 |
2014 |
Apert syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
We examine late embryonic skull development and suture patency in Fgfr2 Apert syndrome mice between embryonic day 17.5 and birth and quantify the effects of these mutations on 3D skull morphology, suture patency and growth.
|
24580805 |
2014 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.
|
24489893 |
2014 |
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
|
24489893 |
2014 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Apert syndrome is a genetic disorder known as acrocephalopolysyndactyly type 1 caused by mutations in the fibroblast growth factor receptor 2 and characterized by coronal craniosynostosis, symmetric bone and skin syndactyly of hands and feet, and craniofacial dysmorphic features.
|
25045033 |
2014 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Most interestingly a case of early-onset papillary carcinoma of the bladder showing a FGFR2 p.Pro253Arg mutation in exon 7 in a patient with Apert Syndrome was reported recently.
|
24817968 |
2014 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
|
24656465 |
2014 |
Apert syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
FGFR1 and FGFR2 mutations in Pfeiffer syndrome.
|
23348274 |
2013 |
Apert syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Since our gene expression results suggested that novel signaling elicited by mutant FGFR2 might be associated with central nervous system (CNS) development and maintenance, we next investigated if DEGs found in AS cells were also altered in the CNS of an AS mouse model.
|
23593218 |
2013 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Bone formation and micro-architecture between 28- and 56-day-old mutant mice and controls were compared to investigate the changes in the mandibular micro-architecture caused by the Fgfr2(S252W/+) mutation to provide a basis for exploring the pathogenesis and therapeutic measures of human Apert syndrome.
|
23495007 |
2013 |
Apert syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.
|
24127277 |
2013 |