Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.

doi:10.1038/386288a0

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Article

Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.

Nature - 20 Mar 1997

Su W C, Kitagawa M, Xue N, Xie B, Garofalo S, Cho J, Deng C, Horton W A, Fu X Y

Abstract excerpt

The achondroplasia class of chondrodysplasias comprises the most common genetic forms of dwarfism in humans and includes achondroplasia, hypochondroplasia and thanatophoric dysplasia types I and II (TDI and TDII), which are caused by different mutations in a fibroblast growth-factor receptor FGFR...

Topics

Animals
Bone and Bones
Cell Line
Cell Membrane
Cell Nucleus
Cyclin-Dependent Kinase Inhibitor p21
Cyclins
DNA-Binding Proteins
Gene Expression Regulation
Humans
Mice
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Point Mutation

Protein-Tyrosine Kinases

Receptors, Fibroblast Growth Factor

Recombinant Proteins

STAT1 Transcription Factor

Thanatophoric Dysplasia

Source

Open in PubMed

Identifiers

PMID: 9069288
DOI: 10.1038/386288a0

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9069288-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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Activation of Stat1 by mutant fibroblast growth-factor receptor in thanatophoric dysplasia type II dwarfism.PMID 9069288Read ↗

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.Semantic proximity Read ↗

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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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The thanatophoric dysplasia type II mutation hampers complete maturation of fibroblast growth factor receptor 3 (FGFR3), which activates signal transducer and activator of transcription 1 (STAT1) from the endoplasmic reticulum.Semantic proximity Read ↗

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