Discover Community Create You

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

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia

23 Feb 2017

Abstract excerpt

Abstract Achondroplasia (ACH), the most common genetic dwarfism in human, is caused by a gain-of function mutation in fibroblast growth factor receptor 3 (FGFR3). Currently, there is no effective treatment for ACH. The development of an appropriate human-relevant model is important for testing potential therapeutic interventions before human clinical trials. Here, we have generated an ACH mouse model in which the...

Read the complete abstract on PubMed

Topics

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

Share to Connective tissue disorders research
Share to Fibroblast Growth Factor Research
Share to Neonatal Respiratory Health Research

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

Source

Identifiers

PMID: 28230213
DOI: 10.1038/srep43220

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasiaPMID 28230213Read ↗

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

FGFR3 targeting strategies for achondroplasia.Semantic proximity Read ↗

FGFR3 mutation causes abnormal membranous ossification in achondroplasiaSemantic proximity Read ↗

Novel therapeutic approaches for the treatment of achondroplasia.Semantic proximity Read ↗

Skeletal Characterization of the Fgfr3 Mouse Model of Achondroplasia Using Micro-CT and MRI Volumetric Imaging.Semantic proximity Read ↗

Achondroplasia: from genotype to phenotype.Semantic proximity Read ↗

A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.Semantic proximity Read ↗

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

Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.Semantic proximity Read ↗

Generation of Fgfr3 conditional knockout mice.Semantic proximity Read ↗

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

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