ArticleAmerican journal of human genetics2009
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 112 citations in OpenAlex.
- PKNOX2 is associated with formal thought disorder in schizophrenia: a meta-analysis of two genome-wide association studies.Journal of molecular neuroscience : MN · 2012Pooled it
- GPC6 facilitates progression of SHH-subgroup medulloblastoma by enhancing Hedgehog secretion and signaling responses.Journal of biomedical research · 2026Article
- Genetic variability in proteoglycan biosynthetic genes reveals new facets of heparan sulfate diversity.Essays in biochemistry · 2024Review
- Article
- Article
- Dominant omodysplasia-A sporadic case-A new case report and review of the literature.Clinical case reports · 2022Article
- The function of glypicans in the mammalian embryo.American journal of physiology. Cell physiology · 2022Review
- Hedgehog pathway modulation by glypican 3-conjugated heparan sulfate.Journal of cell science · 2022Article
- Genomic legacy of migration in endangered caribou.PLoS genetics · 2022Article
- Article
- Heparanase in cancer progression: Structure, substrate recognition and therapeutic potential.Frontiers in chemistry · 2022Review
- Glypican 4 mediates Wnt transport between germ layers via signaling filopodia.The Journal of cell biology · 2021Article
- Cross-species screening platforms identify EPS-8 as a critical link for mitochondrial stress and actin stabilization.Science advances · 2021Article
- Congenital Disorders of Deficiency in Glycosaminoglycan Biosynthesis.Frontiers in genetics · 2021Review
- Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.Molecular syndromology · 2020Article
- Notch signaling governs the expression of glypican Dally to define the stem cell niche.Biology open · 2020Article
- WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders.Frontiers in endocrinology · 2020Review
- Association of glypican-6 polymorphisms with lumbar disk herniation risk in the Han Chinese population.Molecular genetics & genomic medicine · 2019Article
- Pathogenic Variants in GPC4 Cause Keipert Syndrome.American journal of human genetics · 2019Article
- Deletion of Chromosome 13 due to Different Rearrangements and Impact on Phenotype.Molecular syndromology · 2019Article
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Authors and funding
17 authors at 7 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 syndrome with multiple malformations caused by glypican 3 mutations (Simpson-Golabi-Behmel syndrome). We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6). All mutations cause truncation of the GPC6 protein and abolish both the HS-binding site and the GPI-bearing membrane-associated domain, and thus loss of function is predicted. Expression studies in microdissected mouse growth plate revealed expression of Gpc6 in proliferative chondrocytes. Thus, GPC6 seems to have a previously unsuspected role in endochondral ossification and skeletal growth, and its functional abrogation results in a short-limb phenotype.
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