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

doi:10.1093/hmg/8.1.35

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

Back to search

Article

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

Human molecular genetics - 1 Jan 1999

Li C, Chen L, Iwata T, Kitagawa M, Fu X Y, Deng C X

Abstract excerpt

Missense mutations of human fibroblast growth factor receptor 3 (FGFR3) result in several skeletal dysplasias, including hypochondroplasia, achondroplasia and thanatophoric dysplasia. To study the function of FGFR3 in bone growth and to create animal models for the FGFR3-related inherited skeleta...

Topics

Amino Acid Substitution
Animals
Base Sequence
Cell Cycle
Cyclin-Dependent Kinase Inhibitor p16
DNA Primers
DNA-Binding Proteins
Dwarfism
Gene Expression
Heterozygote
Homozygote
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Immunohistochemistry

Mice

Mice, Mutant Strains

Mice, Transgenic

Milk Proteins

Phenotype

Source

Open in PubMed

Identifiers

PMID: 9887329
DOI: 10.1093/hmg/8.1.35

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9887329-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors.PMID 9887329Read ↗

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

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasiaSemantic proximity Read ↗

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

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

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

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3.Semantic proximity Read ↗

FGFR3 targeting strategies for achondroplasia.Semantic proximity Read ↗

A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.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 ↗

Constitutive activation of MEK1 in chondrocytes causes Stat1-independent achondroplasia-like dwarfism and rescues the Fgfr3-deficient mouse phenotype.Semantic proximity Read ↗

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