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Article

Mouse models of Apert syndrome.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Sept 2012

Holmes Greg

Abstract excerpt

INTRODUCTION: Apert syndrome is one of the more clinically distinct craniosynostosis syndromes in man. It is caused by gain-of-function mutations in FGFR2, over 98% of which are the two amino acid substitution mutations S252W and P253R. FGFR2 is widely expressed throughout development, so that many tissues are adversely affected in Apert syndrome, particularly the calvarial bones, which begin to fuse during...

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Share to Acrocephalosyndactylia
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Share to Receptor, Fibroblast Growth Factor, Type 2

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Identifiers

PMID: 22872267
DOI: 10.1007/s00381-012-1872-z

Genes

FGFR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mouse models of Apert syndrome.PMID 22872267Read ↗

Understanding the molecular basis of Apert syndrome.Semantic proximity Read ↗

Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.Semantic proximity Read ↗

A Pro253Arg mutation in fibroblast growth factor receptor 2 (Fgfr2) causes skeleton malformation mimicking human Apert syndrome by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

Evidence that Fgf10 contributes to the skeletal and visceral defects of an Apert syndrome mouse model.Semantic proximity Read ↗

Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse modelSemantic proximity Read ↗

Activation of p38 MAPK pathway in the skull abnormalities of Apert syndrome Fgfr2+P253R miceSemantic proximity Read ↗

From shape to cells: mouse models reveal mechanisms altering palate development in Apert syndrome.Semantic proximity Read ↗

The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.Semantic proximity Read ↗

RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis.Semantic proximity Read ↗

Dynamic morphological changes in the skulls of mice mimicking human Apert syndrome resulting from gain-of-function mutation of FGFR2 (P253R).Semantic proximity Read ↗

The study of abnormal bone development in the Apert syndrome Fgfr2+/S252W mouse using a 3D hydrogel culture model.Semantic proximity Read ↗

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.Semantic proximity Read ↗

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