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24 documents found
1: Title: Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.
Authors: Chiarelli, Nicola, et.al. .
Journal: PloS one, Vol. 14 (2): e0211647, 2019 .
Snippet: Microarray analysis also indicated the decreased expression of DNAJB7, VIPAS39, CCPG1, ATG10, SVIP, which encode molecular chaperones facilitating protein folding, enzymes regulating post-Golgi COLLs processing, and proteins acting as cargo receptors required for endoplasmic reticulum (ER) proteostasis and implicated in the autophagy process.
Affiliation: Department of Molecular and Translational Medicine, Division of Biology and Genetics, University of Brescia, Brescia, Italy. .
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2: Title: Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B.
Authors: Hunter, Morag R, et.al. .
Journal: Journal of molecular biology (J Mol Biol), 2018 .
Snippet: Class C core vacuole/endosome tethering (CORVET) and homotypic fusion and vacuole protein sorting (HOPS) are two such complexes, both containing the Sec1/Munc18 protein subunit VPS33A.
Affiliation: Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK. Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto M5G 1X5, Canada. Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto M5G 1X5, Canada; Department of Molecular Genetics, University of Toronto, Toronto, Canada. Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge CB2 1QP, UK. Electronic address: scg34@cam.ac.uk. .
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3: Title: Vacuolar Protein Sorting 33B Is a Tumor Suppressor in Hepatocarcinogenesis.
Authors: Wang, Conghui, et.al. .
Journal: Hepatology (Baltimore, Md.) (Hepatology), 2018 .
Snippet: Liver-specific Vps33b deficiency induces liver damage, progressive hepatitis, fibrosis and HCC in male mice, indicating Vps33b is a crucial contributory factor to the hepatocarcinogenesis. Vps33b deficiency-caused liver damage was primarily due to the disorders of structural and functional hepatocyte polarity, which were reflected by the decreased protein levels of E-cadherin because of inaccurate location to lysosomes, and polarity defects at both apical and lateral plasma membrane proteins.
Affiliation: Department of Biochemistry and Molecular Cell Biology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Department of Hepatic Surgery VI, Eastern Hepatobiliary Surgery Hospital, Second Military Medical University, Shanghai, China. Key Laboratory of Infection and Immunity, Institute of Biophysics, University of Chinese Academy of Sciences, Beijing, China. Department of Pathophysiology, Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Collaborative Innovation Center of Hematology, Shanghai Jiao Tong University School of Medicine, Shanghai, China. .
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4: Title: VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.
Authors: Rogerson, Clare, et.al. .
Journal: Biochimica et biophysica acta (Biochim Biophys Acta), 2018 .
Snippet: Mouse knockouts of Vps33b or Vipas39 are good models of ARC syndrome and develop an ichthyotic phenotype.
Affiliation: MRC Laboratory for Molecular Cell Biology, University College London, London, WC1E 6BT, UK; Institute of Child Health, University College London, London, WC1N 1EH, UK. Electronic address: c.m.rogerson@qmul.ac.uk. MRC Laboratory for Molecular Cell Biology, University College London, London, WC1E 6BT, UK; Institute of Child Health, University College London, London, WC1N 1EH, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, WC1N 3JH, UK. Electronic address: p.gissen@ucl.ac.uk. .
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5: Title: [Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome].
Authors: Huang, Da-Gui, et.al. .
Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics (Zhongguo Dang Dai Er Ke Za Zhi), Vol. 19 (10): 1077-1082, 2017 .
Snippet: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B or VIPAS39 gene.
Affiliation: Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou 510630, China. songyuanzong@vip.tom.com. .
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6: Title: Genetic profiling of children with advanced cholestatic liver disease.
Authors: Shagrani, M, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 92 (1): 52-61, 2017 .
Snippet: TJP2 and VIPAS39.
Affiliation: Organ Transplant Centre, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Medicine, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Saudi Human Genome Project, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia. Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. .
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7: Title: Vps33b regulates Vwf-positive vesicular trafficking in megakaryocytes.
Authors: Dai, Jing, et.al. .
Journal: The Journal of pathology (J Pathol), Vol. 240 (1): 108-19, 2016 .
Snippet: VPS33B association with VIPAS39, α-tubulin, and SEC22B was identified by co-immunoprecipitation, mass spectra, and immunoblotting in human embryonic kidney 293T (HEK293T) cells.
Affiliation: Department of Biochemistry and Molecular Cell Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Key Laboratory of Cell Differentiation and Apoptosis of Chinese Ministry of Education, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Department of Biological Sciences, University of Memphis, Memphis, TN, USA. Department of Pathophysiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China. .
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8: Title: Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?
Authors: Nurden, Alan T, et.al. .
Journal: American journal of hematology (Am J Hematol), Vol. 91 (7): 714-8, 2016 .
Snippet: These include GATA1, VPS33B, or VIPAS39 in the arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome and now GFI1B.
Affiliation: Institut de Rhythmologie et de Modélisation Cardiaque, Plateforme Technologique d'Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac, France. .
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9: Title: Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.
Authors: Aflatounian, Majid, et.al. .
Journal: European journal of medical genetics (Eur J Med Genet), Vol. 59 (4): 237-9, 2016 .
Snippet: Genetic studies showed a homozygous mutation in the VIPAS39 gene.
Affiliation: Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. UCL Institute of Child Health and MRC Laboratory for Molecular Cell Biology, Great Ormond Street Hospital for Children, London, UK. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir. .
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10: Title: Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity.
Authors: van der Kant, Rik, et.al. .
Journal: The Journal of biological chemistry (J Biol Chem), Vol. 290 (51): 30280-90, 2015 .
Snippet: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome-associated mutations in VPS33B selectively disrupt recruitment to late endosomes by RILP or binding to its partner VIPAS39.
Affiliation: From the Division of Cell Biology, Netherlands Cancer Institute, Amsterdam, 1066 CX, The Netherlands and Rikkant@gmail.com j.neefjes@nki.nl. Department of Cell Biology, Center of Molecular Medicine, Utrecht, 3584 CX, The Netherlands. From the Division of Cell Biology, Netherlands Cancer Institute, Amsterdam, 1066 CX, The Netherlands and. .
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11: Title: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome: from molecular genetics to clinical features.
Authors: Zhou, Yaoyao, et.al. .
Journal: Italian journal of pediatrics (Ital J Pediatr), Vol. 40, 2014 .
Snippet: Additional features include ichthyosis, central nervous system malformation, platelet anomalies, and severe failure to thrive.
Affiliation: Department of Cardiology, No. 3 People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, 201900, Shanghai, China. joyoyo88@163.com. Department of Cardiology, No. 3 People's Hospital, Shanghai Jiao Tong University School of Medicine, No. 280, Mohe Road, Baoshan District, 201900, Shanghai, China. jfzhang_dr@163.com. .
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12: Title: Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.
Authors: Seo, S H, et.al. .
Journal: Clinical genetics (Clin Genet), Vol. 88 (1): 80-4, 2015 .
Snippet: Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome is an autosomal recessive disorder caused by mutations in the VPS33B and VIPAS39.
Affiliation: Department of Laboratory Medicine, Seoul National University Hospital, Seoul, South Korea. Department of Laboratory Medicine, Seoul National University Bundang Hospital, Seongnam, South Korea. Department of Pediatrics, Seoul National University Children's Hospital, Seoul, South Korea. Department of Laboratory Medicine, National Medical Center, Seoul, South Korea. .
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13: Title: ARC syndrome with high GGT cholestasis caused by VPS33B mutations.
Authors: Wang, Jian-She, et.al. .
Journal: World journal of gastroenterology (World J Gastroenterol), Vol. 20 (16): 4830-4, 2014 .
Snippet: Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome (OMIM 208085) is an autosomal recessive disorder that is caused by mutations in 2 interacting genes VPS33B and VIPAS39.
Affiliation: Jian-She Wang, Jing Zhao, Li-Ting Li, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai 201102, China. .
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14: Title: [The progress in molecular genetics and clinical features of arthrogryposis-renal tubular dysfunction-cholestasis syndrome].
Authors: Lan, Tian, et.al. .
Journal: Zhonghua er ke za zhi. Chinese journal of pediatrics (Zhonghua Er Ke Za Zhi), Vol. 52 (1): 69-71, 2014 .
No Abstract available.
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15: Title: Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
Authors: Tornieri, Karine, et.al. .
Journal: Human molecular genetics (Hum Mol Genet), Vol. 22 (25): 5215-28, 2013 .
Snippet: The later disease is also caused by mutations in VIPAS39, (Vps33b interacting protein, apical-basolateral polarity regulator, SPE-39 homolog; ARC2), a protein that interacts with the HOmotypic fusion and Protein Sorting (HOPS) complex, a tether necessary for endosome-lysosome traffic.
Affiliation: Department of Cell Biology. .
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16: Title: Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.
Authors: Ackermann, Oanez, et.al. .
Journal: Journal of pediatric gastroenterology and nutrition (J Pediatr Gastroenterol Nutr), Vol. 58 (3): e29-32, 2014 .
No Abstract available.
Affiliation: *Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Biliary Atresia †Pathology Unit, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris Sud 11, Le Kremlin-Bicêtre, France ‡Laboratory for Molecular Cell Biology, Great Ormond Street Hospital, London, UK. .
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17: Title: α-granules: a story in the making.
Journal: Blood, Vol. 120 (25): 4908-9, 2012 .
Snippet: In this issue of Blood, Urban et al now characterize platelets from patients with an inheritable α-granule defect, demonstrating a role for VPS16B in α-granule biogenesis and taking us one step closer to understanding how these elusive organelles are formed.
Affiliation: Beth Israel Deaconess Medical Center. .
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18: Title: The VPS33B-binding protein VPS16B is required in megakaryocyte and platelet α-granule biogenesis.
Authors: Urban, Denisa, et.al. .
Journal: Blood, Vol. 120 (25): 5032-40, 2012 .
Snippet: Characterization of platelets from a patient with arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome containing mutations in C14orf133 encoding VPS16B revealed pale-appearing platelets in blood films and electron microscopy revealed a complete absence of α-granules, whereas δ-granules were observed.
Affiliation: Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada. .
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19: Title: Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
Authors: Smith, Holly, et.al. .
Journal: Human mutation (Hum Mutat), Vol. 33 (12): 1656-64, 2012 .
Snippet: Cardinal features of ARC include congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis.
Affiliation: Medical and Molecular Genetics, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. .
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20: Title: Inhibitory effect of SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells.
Authors: Ishii, Ayumi, et.al. .
Journal: FEBS letters (Febs Lett), Vol. 586 (16): 2245-50, 2012 .
Snippet: SPE-39 has an inhibitory effect due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells
Affiliation: Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, Shobara, Hiroshima 727-0023, Japan. .
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