Disease: Arthrogryposis renal dysfunction cholestasis syndrome
- A genetic screen in zebrafish identifies the mutants vps18, nf2 and foie gras as models of liver disease
- A New Aberration in the VPS33B Gene Leads to Full-Symptom ARCS1
- A Novel <em>VPS33B</em> Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
- A novel mutation in <em>VPS33B</em> gene causing a milder ARC syndrome phenotype with prolonged survival
- A Novel Mutation of <em>VPS</em>33<em>B</em> Gene Associated with Incomplete Arthrogryposis-Renal Dysfunction-Cholestasis Phenotype
- A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome
- A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
- A Novel VPS33B Variant Identified by Exome Sequencing in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome
- Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
- Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome
- Advances in our understanding of the molecular basis of disorders of platelet function
- Agranular platelets as a cardinal feature of ARC syndrome
- An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Answers
- An uncommon case of arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and review of the renal involvement: Questions
- ARC syndrome
- ARC syndrome in preterm baby
- ARC syndrome with complex renal problems: nephrocalcinosis, proximal and hyperkalemic distal RTA and nephrogenic diabetes insipidus
- ARC syndrome with high GGT cholestasis caused by VPS33B mutations
- Arc syndrome without arthrogryposis, with hip dislocation and renal glomerulocystic appearance: a case report
- ARC Syndrome-Linked Vps33B Protein Is Required for Inflammatory Endosomal Maturation and Signal Termination
- Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features
- Arthrogryposis-renal dysfunction-cholestasis syndrome
- Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report
- Arthrogryposis–renal dysfunction–cholestasis syndrome
- Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome: a rare association with high GGT level and absent kidney
- Arthrogryposis, renal dysfunction and cholestasis syndrome
- Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation
- Arthrogryposis, renal dysfunction, cholestasis syndrome in a neonate: an uncommon association of common problems
- Arthrogryposis, renal dysfunction, cholestasis syndrome with a novel mutation in two siblings
- Arthrogryposis, renal tubular acidosis and cholestasis (ARC) syndrome: two new cases and review
- Arthrogryposis, renal tubular dysfunction, cholestasis (ARC) syndrome: case report and review of the literature
- Arthrogryposis, renal tubular dysfunction, cholestasis, ichthyosis syndrome (ARCI)
- Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome
- Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification
- Biliary malformation with renal tubular insufficiency in two male infants: third family report
- Cerebral defects and nephrogenic diabetes insipidus with the ARC syndrome: additional findings or a new syndrome (ARCC-NDI)?
- Characterization of a Novel Integrin Binding Protein, VPS33B, Which Is Important for Platelet Activation and In Vivo Thrombosis and Hemostasis
- Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity
- Clinical and molecular genetic features of ARC syndrome
- Clinical and pathological aspects of ARC (arthrogryposis, renal dysfunction and cholestasis) syndrome in two siblings
- Clinical characteristics and VPS33B mutations in patients with ARC syndrome
- Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome
- Constipation as an Atypical Sign of ARC Syndrome - Case Report
- CORVET, CHEVI and HOPS - multisubunit tethers of the endo-lysosomal system in health and disease
- Current Strategies in Diagnosis of Inherited Storage Pool Defects
- Defective lamellar granule secretion in arthrogryposis, renal dysfunction, and cholestasis syndrome caused by a mutation in VPS33B
- Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia
- Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome
- Haematological manifestations of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: a case report
- Hepatic Vps33b deficiency aggravates cholic acid-induced cholestatic liver injury in male mice
- Hypersensitivity of Vps33B mutant flies to non-pathogenic infections is dictated by aberrant activation of p38b MAP kinase
- Ichthyosis associated with ARC syndrome: ARC syndrome is one of the differential diagnoses of ichthyosis
- Identification of genes and signaling pathways associated with arthrogryposis-renal dysfunction-cholestasis syndrome using weighted correlation network analysis
- Identification of genes and signaling pathways associated with arthrogryposis‑renal dysfunction‑cholestasis syndrome using weighted correlation network analysis
- Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome
- Improvement of refractory pruritus after lipoprotein-apheresis in arthrogryposis-renal failure-cholestasis syndrome
- Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene
- Liver biopsy complicated by hemorrhage in a patient with ARC syndrome
- Liver transplant in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome with severe intractable pruritus
- Metabolomics and Lipidomics Reveal the Effect of Hepatic <em>Vps33b</em> Deficiency on Bile Acids and Lipids Metabolism
- Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel <em>VPS33B</em> Variant
- Molecular basis of intrahepatic cholestasis
- Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome
- Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
- Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
- Nonsyndromic paucity of interlobular bile ducts: report of 10 patients
- Novel gene mutations in three Japanese patients with ARC syndrome associated mild phenotypes: a case series
- Novel missense mutation in VPS33B is associated with isolated low gamma-glutamyltransferase cholestasis: Attenuated, incomplete phenotype of arthrogryposis, renal dysfunction, and cholestasis syndrome
- Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis
- Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome
- One case of arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome featuring an incomplete and mild phenotype
- Orthopaedic manifestations of arthrogryposis-renal dysfunction-cholestasis syndrome
- Overlapping Machinery in Lysosome-Related Organelle Trafficking: A Lesson from Rare Multisystem Disorders
- Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
- Recycling endosomes in apical plasma membrane domain formation and epithelial cell polarity
- Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis
- Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis
- Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report
- Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
- Sorting machineries: how platelet-dense granules differ from α-granules
- The complex phenotype of ARC syndrome: A new case
- The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila
- The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome
- The Role of Platelets and ε-Aminocaproic Acid in Arthrogryposis, Renal Dysfunction, and Cholestasis (ARC) Syndrome Associated Hemorrhage
- The Sec1-Munc18 protein VPS33B forms a uniquely bidirectional complex with VPS16B
- The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis
- The zebrafish mutant lbk/vam6 resembles human multisystemic disorders caused by aberrant trafficking of endosomal vesicles
- Two novel mutations in <em>VPS33B</em> gene cause a milder ARC syndrome with prolonged survival in a 12-year-old patient: Case report
- Two novel mutations in the <em>VPS33B</em> gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report
- Two novel VPS33B mutations in a patient with arthrogryposis, renal dysfunction and cholestasis syndrome in mainland China
- Two patients with arthrogryposis-renal tubular dysfunction-cholestasis syndrome in a Japanese family
- VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function
- Vps33b is crucial for structural and functional hepatocyte polarity
- VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype
- Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes
- VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes
- Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes
- Wide spectrum of clinical features in a case of arthrogryposis-renal tubular dysfunction-cholestasis syndrome
- Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6
- α-granule biogenesis: from disease to discovery