Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.

Human molecular genetics - 1 May 2010

Miraoui Hichem, Ringe Jochen, Häupl Thomas, Marie Pierre J

Abstract excerpt

Dysregulations of osteoblast function induced by gain-of-function genetic mutations in fibroblast growth factor receptors (FGFRs) cause premature fusion of cranial sutures in syndromic craniosynostosis. The pathogenic signaling mechanisms induced by FGFR genetic mutations in human craniosynostosis remain largely unknown. In this study, we have used microarray analysis to investigate the signaling pathways that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acrocephalosyndactylia
Share to Fetus

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoprecipitation

Share to Microarray Analysis

Share to Osteoblasts

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptor, Platelet-Derived Growth Factor alpha

Share to Up-Regulation

Source

Identifiers

PMID: 20124286
DOI: 10.1093/hmg/ddq045

Genes

EGFR
FGFR2

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Increased EFG- and PDGFalpha-receptor signaling by mutant FGF-receptor 2 contributes to osteoblast dysfunction in Apert craniosynostosis.PMID 20124286Read ↗

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

P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.Semantic proximity Read ↗

Regulation of human cranial osteoblast phenotype by FGF-2, FGFR-2 and BMP-2 signaling.Semantic proximity Read ↗

Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.Semantic proximity Read ↗

Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.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 ↗

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 ↗

Apert syndrome mutant FGFR2 and its soluble form reciprocally alter osteogenesis of primary calvarial osteoblasts.Semantic proximity Read ↗

Apert p.Ser252Trp mutation in FGFR2 alters osteogenic potential and gene expression of cranial periosteal cells.Semantic proximity Read ↗

Cell Type-Dependent Nonspecific Fibroblast Growth Factor Signaling in Apert Syndrome.Semantic proximity Read ↗

Molecular and cellular bases of syndromic craniosynostoses.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.