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

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.

The Journal of clinical investigation - 1 Sept 2005

Seemann Petra, Schwappacher Raphaela, Kjaer Klaus W, Krakow Deborah, Lehmann Katarina, Dawson Katherine, Stricker Sigmar, Pohl Jens, Plöger Frank, Staub Eike, Nickel Joachim, Sebald Walter, Knaus Petra, Mundlos Stefan

Abstract excerpt

Here we describe 2 mutations in growth and differentiation factor 5 (GDF5) that alter receptor-binding affinities. They cause brachydactyly type A2 (L441P) and symphalangism (R438L), conditions previously associated with mutations in the GDF5 receptor bone morphogenetic protein receptor type 1b (BMPR1B) and the BMP antagonist NOGGIN, respectively. We expressed the mutant proteins in limb bud micromass culture and...

Read the complete abstract on PubMed

Topics

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

Share to Bone Morphogenetic Protein Receptors, Type I
Share to Bone Morphogenetic Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fingers

Share to Growth Differentiation Factor 5

Share to In Situ Hybridization

Share to Limb Deformities, Congenital

Share to Radiography

Share to Tissue Culture Techniques

Source

Open in PubMed Open full text

Identifiers

PMID: 16127465
DOI: 10.1172/JCI25118
PMCID: PMC1190374

Genes

GDF5
BMP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.PMID 16127465Read ↗

A single residue of GDF-5 defines binding specificity to BMP receptor IB.Semantic proximity Read ↗

A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.Semantic proximity Read ↗

A GDF5 Point Mutation Strikes Twice - Causing BDA1 and SYNS2Semantic proximity Read ↗

Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGIN.Semantic proximity Read ↗

New insights into the molecular mechanism of multiple synostoses syndrome (SYNS): mutation within the GDF5 knuckle epitope causes noggin-resistance.Semantic proximity Read ↗

Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2.Semantic proximity Read ↗

A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2.Semantic proximity Read ↗

Crystal structure analysis reveals a spring-loaded latch as molecular mechanism for GDF-5-type I receptor specificity.Semantic proximity Read ↗

The RGM/DRAGON family of BMP co-receptorsSemantic proximity Read ↗

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.Semantic proximity Read ↗

A novel mutation in GDF5 causes autosomal dominant symphalangism in two Chinese families.Semantic proximity Read ↗

FGF receptor mutations: dimerization syndromes, cell growth suppression, and animal models.Semantic proximity Read ↗

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