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Article

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

Human molecular genetics - 1 Jun 2001

Iwata T, Li C L, Deng C X, Francomano C A

Abstract excerpt

Several gain-of-function mutations in a receptor tyrosine kinase, fibroblast growth factor receptor 3 (FGFR3), cause dwarfism in humans. Two particularly severe dwarfisms, thanatophoric dysplasia type II (TDII) and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN), are associated with glutamic acid (E) and methionine (M) substitutions at the K650 residue in the kinase domain. TDII...

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Source

Identifiers

PMID: 11406607
DOI: 10.1093/hmg/10.12.1255

Genes

FGFR3

Variants

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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Highly activated Fgfr3 with the K644M mutation causes prolonged survival in severe dwarf mice.PMID 11406607Read ↗

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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 ↗

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