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

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.

Proceedings of the National Academy of Sciences of the United States of America - 27 Mar 2001

Hajihosseini M K, Wilson S, De Moerlooze L, Dickson C

Abstract excerpt

Intercellular signaling by fibroblast growth factors plays vital roles during embryogenesis. Mice deficient for fibroblast growth factor receptors (FgfRs) show abnormalities in early gastrulation and implantation, disruptions in epithelial-mesenchymal interactions, as well as profound defects in...

Read the complete abstract on PubMed

Topics

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

Share to Acrocephalosyndactylia
Share to Bone Diseases, Developmental
Share to Cartilage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cranial Sutures

Share to Ossification, Heterotopic

Share to Receptor, Fibroblast Growth Factor, Type 2

Share to Receptors, Fibroblast Growth Factor

Share to Viscera

Source

Open in PubMed Open full text

Identifiers

PMID: 11274405
DOI: 10.1073/pnas.071586898
PMCID: PMC31142

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11274405-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A splicing switch and gain-of-function mutation in FgfR2-IIIc hemizygotes causes Apert/Pfeiffer-syndrome-like phenotypes.PMID 11274405Read ↗

Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous<i>FGFR2</i>Mutations Identified by Exome SequencingSemantic proximity Read ↗

A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.Semantic proximity Read ↗

Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes.Semantic proximity Read ↗

Soluble form of FGFR2 with S252W partially prevents craniosynostosis of the apert mouse modelSemantic proximity Read ↗

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

Molecular and cellular bases of syndromic craniosynostoses.Semantic proximity Read ↗

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

FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.Semantic proximity Read ↗

FGFR3 mutation causes abnormal membranous ossification in achondroplasiaSemantic proximity Read ↗

The IIIc alternative of Fgfr2 is a positive regulator of bone formation.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 ↗

Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.Semantic proximity Read ↗

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