ArticleNature genetics2010
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Article in Nature genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 78 papers, 1 of them a synthesis that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
78 citing papers in PubMed, 1 synthesis or guideline pooled it, 178 citations in OpenAlex.
- VIPAS39 related arthrogryposis-renal dysfunction-cholestasis syndrome-case report and systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- VPS33B regulates MHC class II antigen presentation in dendritic cells to drive CD4 T cell immunity.iScience · 2026Article
- ER-associated degradation pathway protein SEL1L plays an evolutionarily conserved role in platelet adhesion.The Journal of clinical investigation · 2026Article
- Challenges in the diagnosis and treatment of genetic cholestasis in adults.JHEP reports : innovation in hepatology · 2026Review
- Article
- The primate-specific Nedd4-1(NE) localizes to late endosomes in response to amino acids to suppress autophagy.Nature communications · 2025Article
- UtilizingJournal of developmental biology · 2025Review
- Epidermal lamellar bodies, essential organelles for the skin barrier.Frontiers in cell and developmental biology · 2025Review
- Skin lamellar bodies: a unique set of lysosome-related organelles.Frontiers in cell and developmental biology · 2025Article
- Evolutionary origins of the lysosome-related organelle sorting machinery reveal ancient homology in post-endosome trafficking pathways.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Review
- Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review.International journal of molecular sciences · 2023Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Modeling of Protein Complexes.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders.Cells · 2022Review
- Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series.Journal of medical case reports · 2022Article
- Syntaxin 12 and COMMD3 are new factors that function with VPS33B in the biogenesis of platelet α-granules.Blood · 2022Article
- RAB10 Interacts with ABCB4 and Regulates Its Intracellular Traffic.International journal of molecular sciences · 2021Article
- A Link between Intrahepatic Cholestasis and Genetic Variations in Intracellular Trafficking Regulators.Biology · 2021Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
25 authors at 13 institutions in 7 countries.
Funding
Abstract
Arthrogryposis, renal dysfunction and cholestasis syndrome (ARC) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells. Mutations in VPS33B account for most cases of ARC. We identified mutations in VIPAR (also called C14ORF133) in individuals with ARC without VPS33B defects. We show that VIPAR forms a functional complex with VPS33B that interacts with RAB11A. Knockdown of vipar in zebrafish resulted in biliary excretion and E-cadherin defects similar to those in individuals with ARC. Vipar- and Vps33b-deficient mouse inner medullary collecting duct (mIMDC-3) cells expressed membrane proteins abnormally and had structural and functional tight junction defects. Abnormal Ceacam5 expression was due to mis-sorting toward lysosomal degradation, but reduced E-cadherin levels were associated with transcriptional downregulation. The VPS33B-VIPAR complex thus has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.
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What OpenQuestion holds
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.