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

Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation.

The international journal of biochemistry & cell biology - 1 Feb 2018

Montone R, Romanelli M G, Baruzzi A, Ferrarini F, Liboi E, Lievens P M-J

Abstract excerpt

K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. Both SADDAN and TDII present with affected endochondral ossification marked by impaired chondrocyte functions and growth plate disorganization. In vitro, K650M/E substitutions confer...

Read the complete abstract on PubMed

Topics

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

Share to Achondroplasia
Share to Chondrocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cytoskeleton

Share to Paxillin

Share to Phospholipase C gamma

Share to Receptor, Fibroblast Growth Factor, Type 3

Share to src-Family Kinases

Share to Thanatophoric Dysplasia

Source

Identifiers

PMID: 29242050
DOI: 10.1016/j.biocel.2017.12.008

Genes

FGFR3
STAT1

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

Mutant FGFR3 associated with SADDAN disease causes cytoskeleton disorganization through PLCγ1/Src-mediated paxillin hyperphosphorylation.PMID 29242050Read ↗

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

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.Semantic proximity Read ↗

FGFR3 biology and skeletal disease.Semantic 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 ↗

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

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

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation 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 ↗

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-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.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 ↗

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