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Article

Effect of the G375C and G346E achondroplasia mutations on FGFR3 activation.

PloS one - 1 Jan 2012

He Lijuan, Serrano Christopher, Niphadkar Nitish, Shobnam Nadia, Hristova Kalina

Abstract excerpt

Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism. The G380R mutation accounts for 98% of the achondroplasia cases, and thus has been studied extensively. Here we study the effect of the G375C mutation on the phosphorylation and the cross-linking propensity of full-length FGFR3 in HEK 293 cells, and we compare the results to previously published...

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Topics

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Share to Achondroplasia
Share to Amino Acid Substitution
Share to Fibroblast Growth Factor 1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to HEK293 Cells

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Open in PubMed Open full text

Identifiers

PMID: 22529939
DOI: 10.1371/journal.pone.0034808
PMCID: PMC3329527

Genes

FGFR3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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