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

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

American journal of human genetics - 1 Jun 2009

Campos-Xavier Ana Belinda, Martinet Danielle, Bateman John, Belluoccio Dan, Rowley Lynn, Tan Tiong Yang, Baxová Alica, Gustavson Karl-Henrik, Borochowitz Zvi U, Innes A Micheil, Unger Sheila, Beckmann Jacques S, Mittaz Lauréane, Ballhausen Diana, Superti-Furga Andrea, Savarirayan Ravi, Bonafé Luisa

Abstract excerpt

Glypicans are a family of glycosylphosphatidylinositol (GPI)-anchored, membrane-bound heparan sulfate (HS) proteoglycans. Their biological roles are only partly understood, although it is assumed that they modulate the activity of HS-binding growth factors. The involvement of glypicans in developmental morphogenesis and growth regulation has been highlighted by Drosophila mutants and by a human overgrowth...

Read the complete abstract on PubMed

Topics

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

Share to Chondrocytes
Share to Chromosomes, Human, Pair 13

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Comparative Genomic Hybridization

Share to Dwarfism

Share to Fluorescent Antibody Technique

Share to Genes, Recessive

Share to Glypicans

Share to Osteogenesis

Source

Open in PubMed Open full text

Identifiers

PMID: 19481194
DOI: 10.1016/j.ajhg.2009.05.002
PMCID: PMC2694977

Genes

GPC6
GPI

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

Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.PMID 19481194Read ↗

Simpson Golabi Behmel syndrome: progress toward understanding the molecular basis for overgrowth, malformation, and cancer predisposition.Semantic proximity Read ↗

Altered hematopoiesis in glypican-3-deficient mice results in decreased osteoclast differentiation and a delay in endochondral ossification.Semantic proximity Read ↗

Glypican-6 promotes the growth of developing long bones by stimulating Hedgehog signaling.Semantic proximity Read ↗

Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Molecular analysis of a novel intragenic deletion in GPC3 in three cousins with Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

GPC3 mutation analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene.Semantic proximity Read ↗

Glypican-6 deficiency causes dose-dependent conotruncal congenital heart malformations through abnormal remodelling of the endocardial cushionsSemantic proximity Read ↗

Genotype/phenotype correlations of males affected by Simpson-Golabi-Behmel syndrome with GPC3 gene mutations: patient report and review of the literature.Semantic proximity Read ↗

Long-term observation of a patient with dominant omodysplasia.Semantic proximity Read ↗

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.Semantic proximity Read ↗

Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome.Semantic proximity Read ↗

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