ArticleAmerican journal of human genetics2016
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 62 citations in OpenAlex.
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Identification of GLDNInternational journal of oral science · 2026Article
- Article
- Single-nucleus multi-omics identifies shared and distinct pathways in Pick's and Alzheimer's disease.Science advances · 2025Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- Gliomedin drives gastric cancer cell proliferation and migration, correlating with a poor prognosis.Heliyon · 2024Article
- An Early Gestation Plasma Inflammasome in Rural Bangladeshi Women.Biomolecules · 2024Article
- Novel PIP5K1C variant identified in a Chinese pedigree with lethal congenital contractural syndrome 3.BMC pediatrics · 2024Article
- Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.Journal of clinical medicine · 2022Article
- Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita.Journal of medical genetics · 2022Article
- Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.Children (Basel, Switzerland) · 2022Article
- Article
- Matricellular proteins in cutaneous wound healing.Frontiers in cell and developmental biology · 2022Review
- De novo mutations ofJournal of medical genetics · 2021Article
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.Journal of medical genetics · 2021Article
- Article
- Review
- Single-cell transcriptomic analysis of the adult mouse spinal cord reveals molecular diversity of autonomic and skeletal motor neurons.Nature neuroscience · 2021Article
- Temperature and species-dependent regulation of browning in retrobulbar fat.Scientific reports · 2021Article
- Mechanisms of node of Ranvier assembly.Nature reviews. Neuroscience · 2021Review
Corrections and comments
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Authors and funding
17 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Arthrogryposis multiplex congenita (AMC) is a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. Through linkage analysis, homozygosity mapping, and exome sequencing in four unrelated families affected by lethal AMC, we identified biallelic mutations in GLDN in the affected individuals. GLDN encodes gliomedin, a secreted cell adhesion molecule involved in the formation of the nodes of Ranvier. Transmission electron microscopy of the sciatic nerve from one of the affected individuals showed a marked lengthening defect of the nodes. The GLDN mutations found in the affected individuals abolish the cell surface localization of gliomedin and its interaction with its axonal partner, neurofascin-186 (NF186), in a cell-based assay. The axoglial contact between gliomedin and NF186 is essential for the initial clustering of Na
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