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Article

An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.

Human molecular genetics - 1 Jun 2012

Mugniery Emilie, Dacquin Romain, Marty Caroline, Benoist-Lasselin Catherine, de Vernejoul Marie-Christine, Jurdic Pierre, Munnich Arnold, Geoffroy Valérie, Legeai-Mallet Laurence

Abstract excerpt

The fibroblast growth factor receptor 3 (FGFR3) plays a critical role in the regulation of endochondral ossification. Fgfr3 gain-of-function mutations cause achondroplasia, the most common form of dwarfism, and a spectrum of chondrodysplasias. Despite a significant number of studies on the role of FGFR3 in cartilage, to date, none has investigated the influence of Fgfr3-mediated effects of the growth plate on...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 22367969
DOI: 10.1093/hmg/dds065

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.PMID 22367969Read ↗

Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.Semantic proximity Read ↗

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.Semantic proximity Read ↗

Fibroblast growth factor receptor 3 is a negative regulator of bone growth.Semantic proximity Read ↗

Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia.Semantic proximity Read ↗

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.Semantic proximity Read ↗

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.Semantic proximity Read ↗

Activating Fgfr3 Y367C mutation causes hearing loss and inner ear defect in a mouse model of chondrodysplasia.Semantic proximity Read ↗

A neonatal lethal mutation in FGFR3 uncouples proliferation and differentiation of growth plate chondrocytes in embryos.Semantic proximity Read ↗

Skeletal overgrowth is mediated by deficiency in a specific isoform of fibroblast growth factor receptor 3.Semantic proximity Read ↗

Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias.Semantic proximity Read ↗

A Ser365->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasiaSemantic proximity Read ↗

FGFR3 mutation causes abnormal membranous ossification in achondroplasiaSemantic proximity Read ↗

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