ArticleProceedings of the National Academy of Sciences of the United States of America2008
Dyggve-Melchior-Clausen syndrome: chondrodysplasia resulting from defects in intracellular vesicle traffic.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women.Nature communications · 2021Pooled it
- The role of Dymeclin in chronic unpredictable mild stress-induced depression: maintaining the Golgi apparatus structure and regulating NLRP3 inflammasome activation.Molecular medicine (Cambridge, Mass.) · 2026Article
- Dyggve-Melchior-Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder.Genes · 2025Article
- Golgi_traff phylogeny reveals ancient eukaryotic genes with recent surprises: replication and diversification of HID1 domain-containing protein unique to Schizosaccharomyces.FEMS microbiology letters · 2025Article
- 1-L Transcription in Prion Diseases.International journal of molecular sciences · 2024Article
- Total Hip Arthroplasty in Dyggve-Melchior-Clausen Syndrome: Literature Review and Case Report.Arthroplasty today · 2024Review
- The evolution and genetic basis of a functionally critical skull bone, the parasphenoid, among Lake Malawi cichlids.Evolutionary journal of the Linnean Society · 2024Article
- AFrontiers in genetics · 2023Article
- Comprehensive and Quantitative Analysis of the Changes in Proteomic and Phosphoproteomic Profiles during Stimulation and Repression of Steroidogenesis in MA-10 Leydig Cells.International journal of molecular sciences · 2022Article
- Dyggve-Melchior-Clausen Syndrome Caused by a Novel Frameshift Variant in a Japanese Patient.Molecular syndromology · 2022Article
- A Case of Growth Hormone Use in Dyggve-Melchior-Clausen Syndrome.Case reports in endocrinology · 2022Article
- The cichlid oral and pharyngeal jaws are evolutionarily and genetically coupled.Nature communications · 2021Article
- A Novel Homozygous Frameshift Variant inFrontiers in pediatrics · 2020Article
- Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification.Matrix biology : journal of the International Society for Matrix Biology · 2019Article
- A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.American journal of human genetics · 2018Article
- HID-1, a new component of the peptidergic signaling pathway.Genetics · 2011Article
- Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.European journal of pediatrics · 2011Article
- Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study.Annals of human genetics · 2010Article
- Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210.The New England journal of medicine · 2010Article
- Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.Journal of children's orthopaedics · 2009Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin (Dym), a gene with previously unknown function. Here we report that Dym-deficient mice display defects in endochondral bone formation similar to that of Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species. Dym-mutant cells display multiple defects in vesicle traffic, as evidenced by enhanced dispersal of Golgi markers in interphase cells, delayed Golgi reassembly after brefeldin A treatment, delayed retrograde traffic of an endoplasmic reticulum-targeted Shiga toxin B subunit, and altered furin trafficking; and the Dym protein associates with multiple cellular proteins involved in vesicular traffic. These results establish dymeclin as a novel protein involved in Golgi organization and intracellular vesicle traffic and clarify the molecular basis for chondrodysplasia in mice and men.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.