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Apert syndrome

Known as: ACS1, Syndactylic Oxycephaly, Acrocephalosyndactyly Type I 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the… 
National Institutes of Health

Related topics

Related topics

29 relations
Absence of septum pellucidumAcrobrachycephalyAcrocephalopolysyndactylyAcrocephalosyndactylia

Papers overview

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2012
2012
Glutamate oxidative injury to RGC-5 cells in culture is necrostatin sensitive and blunted by a hydrogen sulfide (H2S)-releasing derivative of aspirin (ACS14)
2006
2006
Fatty acid handling protein expression in adipose tissue, fatty acid composition of adipose tissue and serum, and markers of insulin resistance
Objective:Proteins involved in cellular fatty acid (FA) uptake and metabolism may be of relevance in the context of disturbed FA… 
Highly Cited
2004
Highly Cited
2004
A Soluble Form of Fibroblast Growth Factor Receptor 2 (FGFR2) with S252W Mutation Acts as an Efficient Inhibitor for the Enhanced Osteoblastic Differentiation Caused by FGFR2 Activation in Apert…
Apert syndrome is an autosomal dominant disease characterized by craniosynostosis and bony syndactyly associated with point… 
Highly Cited
2001
Highly Cited
2001
Uncoupling fibroblast growth factor receptor 2 ligand binding specificity leads to Apert syndrome-like phenotypes
Dominant missense mutations in the genes encoding fibroblast growth factor receptors (FGFRs) 1–3 are the etiology of many… 
Highly Cited
1998
Highly Cited
1998
Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome.
Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of… 
1996
1996
Suture formation, premature sutural fusion, and suture default zones in Apert syndrome.
On the basis of our studies, we postulate that suture formation in Apert syndrome is related to the relative maturity of abutting… 
Highly Cited
1995
Highly Cited
1995
Characterization of two members (ACS1 and ACS3) of the 1-aminocyclopropane-1-carboxylate synthase gene family of Arabidopsis thaliana.
Review
1977
Review
1977
THE PATHOGENESIS OF PREMATURE CRANIOSYNOSTOSIS IN ACROCEPHALOSYNDACTYLY (APERT'S SYNDROME) A Reconsideration
A detailed examination of a stillborn fetus with Apert's syndrome showed several unexpected findings, which prompted a… 
1973
1973
Apert syndrome and palatal mucopolysaccharides.
By means of histochemical techniques, six of seven patients with Apert syndrome were found to have a heavy deposit of acid… 
Highly Cited
1970
Highly Cited
1970
The hand and Apert's syndrome.
Twenty cases of Apert's syndrome are presented, only one of which has appeared as a case report in the previous literature. A… 
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