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

Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.

Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research - 1 Jan 1998

d'Avis P Y, Robertson S C, Meyer A N, Bardwell W M, Webster M K, Donoghue D J

Abstract excerpt

Thanatophoric dysplasia type I (TDI) is a neonatal lethal skeletal dysplasia caused by several mutations in the extracellular domain of fibroblast growth factor receptor 3. These mutations occur either in the Ig2-Ig3 linker domain or in the extracellular juxtamembrane domain, and all involve mutation of the wild-type residue to Cys. In all cases, the presence of the mutant Cys residue allows the receptor to...

Read the complete abstract on PubMed

Topics

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

Share to 3T3 Cells
Share to COS Cells

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

Share to Dimerization

Share to Mutation

Share to Protein-Tyrosine Kinases

Share to Recombinant Fusion Proteins

Share to Transcription, Genetic

Source

Identifiers

PMID: 9438390

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Constitutive activation of fibroblast growth factor receptor 3 by mutations responsible for the lethal skeletal dysplasia thanatophoric dysplasia type I.PMID 9438390Read ↗

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.Semantic proximity Read ↗

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 ↗

Effect of pathogenic cysteine mutations on FGFR3 transmembrane domain dimerization in detergents and lipid bilayers.Semantic proximity Read ↗

Typical achondroplasia secondary to a unique insertional variant of FGFR3 with in vitro demonstration of its effect on FGFR3 function.Semantic proximity Read ↗

Graded activation of fibroblast growth factor receptor 3 by mutations causing achondroplasia and thanatophoric dysplasia.Semantic proximity Read ↗

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.Semantic proximity Read ↗

Thanatophoric dysplasia caused by double missense FGFR3 mutations.Semantic proximity Read ↗

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype.Semantic proximity Read ↗

Sprouty 2 disturbs FGFR3 degradation in thanatophoric dysplasia type II: a severe form of human achondroplasia.Semantic proximity Read ↗

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).Semantic proximity Read ↗

FGFR3 intracellular mutations induce tyrosine phosphorylation in the Golgi and defective glycosylation.Semantic proximity Read ↗

Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasia.Semantic proximity Read ↗

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