PMC Articles for MedGen (Select 462022) - PMC

Andrew R. Cullinane, Anna Straatman-Iwanowska, Jeong K. Seo, Jae S. Ko, Kyung S. Song, Maria Gizewska, Dariusz Gruszfeld, Dorota Gliwicz, Beyhan Tuysuz, Gulin Erdemir, Rachid Sougrat, Yoshiyuki Wakabayashi, Rupert Hinds, Angela Barnicoat, Hanna Mandel, David Chitayat, Björn Fischler, Angels Garcia-Cazorla, A. S. Knisely, Deirdre A. Kelly, Eamonn R. Maher, Paul Gissen

Hum Mutat. Author manuscript; available in PMC 2010 Feb 1.

Published in final edited form as: Hum Mutat. 2009 Feb; 30(2): E330–E337. doi: 10.1002/humu.20900

PMCID:: PMC2635429

Article PubReader PDF–652K Cite

Select item 17189744.

ARC syndrome: an expanding range of phenotypes

K Eastham, P McKiernan, D Milford, P Ramani, J Wyllie, H van't, S Lynch, A Morris

Arch Dis Child. 2001 Nov; 85(5): 415–420. doi: 10.1136/adc.85.5.415

PMCID:: PMC1718974

Summary PDF–144K Cite

Select item 10496025.

Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

S P Horslen, O W Quarrell, M S Tanner

J Med Genet. 1994 Jan; 31(1): 62–64. doi: 10.1136/jmg.31.1.62

PMCID:: PMC1049602

Summary Page Browse PDF–731K Cite

Select item 31010956.

The full-of-bacteria gene is required for phagosome maturation during immune defense in Drosophila

Mohammed Ali Akbar, Charles Tracy, Walter H.A. Kahr, Helmut Krämer

J Cell Biol. 2011 Feb 7; 192(3): 383–390. doi: 10.1083/jcb.201008119

PMCID:: PMC3101095

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Select item 66375147.

Cholestatic jaundice in infancy: struggling with many old and new phenotypes

Claudia Mandato, Giada Zollo, Pietro Vajro

Ital J Pediatr. 2019; 45: 83. Published online 2019 Jul 17. doi: 10.1186/s13052-019-0679-x

PMCID:: PMC6637514

Article PubReader PDF–864K Cite

Select item 64394818.

Metabolomics and Lipidomics Reveal the Effect of Hepatic Vps33b Deficiency on Bile Acids and Lipids Metabolism

Kaili Fu, Conghui Wang, Yue Gao, Shicheng Fan, Huizhen Zhang, Jiahong Sun, Yiming Jiang, Conghui Liu, Lihuan Guan, Junling Liu, Min Huang, Huichang Bi

Front Pharmacol. 2019; 10: 276. Published online 2019 Mar 22. doi: 10.3389/fphar.2019.00276

PMCID:: PMC6439481

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Select item 60031439.

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report

Alejandra Rosales, Maissa Mhibik, Paul Gissen, Oscar Segarra, Susana Redecillas, Gema Ariceta

BMC Nephrol. 2018; 19: 144. Published online 2018 Jun 15. doi: 10.1186/s12882-018-0926-1

PMCID:: PMC6003143

Article PubReader PDF–684K Cite

Select item 443243710.

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome

Amelia Holme, Jennifer A. Hurcombe, Anna Straatman-Iwanowska, Carol I. Inward, Paul Gissen, Richard J. Coward

Clin Kidney J. 2013 Apr; 6(2): 183–188. Published online 2013 Jan 29. doi: 10.1093/ckj/sfs182

PMCID:: PMC4432437

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Select item 390715111.

Mutation detection in cholestatic patients using microarray resequencing of ATP8B1 and ABCB11

Kirsten E McKay, Christopher K Bruce, Jane L Hartley, A S Knisely, Ulrich Baumann, Sonja-Stephanie Bockisch, Ekkehard Sturm, Christian J Hendriksz, Deidre A Kelly, Fiona Macdonald, Paul Gissen

Version 2. F1000Res. 2013; 2: 32. Published online 2013 Mar 20. doi: 10.12688/f1000research.2-32.v2

PMCID:: PMC3907151

Article PubReader PDF–491K Cite

Select item 154165412.

Comparative analysis of CD4-4B4 and CD4-2H4 lymphocyte subpopulations in HIV negative homosexual, HIV seropositive and healthy subjects.

F Vuillier, C Lapresle, G Dighiero

Clin Exp Immunol. 1988 Jan; 71(1): 8–12.

PMCID:: PMC1541654

Summary Page Browse PDF–745K Cite

Select item 612767613.

Sorting machineries: how platelet-dense granules differ from α-granules

Yuanying Chen, Yefeng Yuan, Wei Li

Biosci Rep. 2018 Oct 31; 38(5): BSR20180458. Prepublished online 2018 Aug 13. Published online 2018 Sep 7. doi: 10.1042/BSR20180458

PMCID:: PMC6127676

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Select item 590673114.

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function

Clare Rogerson, Paul Gissen

Biochim Biophys Acta. 2018 May; 1864(5Part A): 1609–1621. doi: 10.1016/j.bbadis.2018.01.028

PMCID:: PMC5906731

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Select item 538718215.

Vps33b is crucial for structural and functional hepatocyte polarity

Joanna Hanley, Dipok Kumar Dhar, Francesca Mazzacuva, Rebeca Fiadeiro, Jemima J. Burden, Anne-Marie Lyne, Holly Smith, Anna Straatman-Iwanowska, Blerida Banushi, Alex Virasami, Kevin Mills, Frédéric P. Lemaigre, A.S. Knisely, Steven Howe, Neil Sebire, Simon N. Waddington, Coen C. Paulusma, Peter Clayton, Paul Gissen

J Hepatol. 2017 May; 66(5): 1001–1011. doi: 10.1016/j.jhep.2017.01.001

PMCID:: PMC5387182

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Select item 498889716.

ARC Syndrome-linked Vps33B protein is required for inflammatory endosomal maturation and signal termination

Mohammed Ali Akbar, Rajakumar Mandraju, Charles Tracy, Wei Hu, Chandrashekhar Pasare, Helmut Krämer

Immunity. Author manuscript; available in PMC 2017 Aug 16.

Published in final edited form as: Immunity. 2016 Aug 16; 45(2): 267–279. Published online 2016 Aug 2. doi: 10.1016/j.immuni.2016.07.010

PMCID:: PMC4988897

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Select item 472431017.

The role of platelets and ε-aminocaproic acid in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome associated hemorrhage

Angela C. Weyand, Rebecca M. Lombel, Steven W. Pipe, Jordan A. Shavit

Pediatr Blood Cancer. Author manuscript; available in PMC 2017 Mar 1.

Published in final edited form as: Pediatr Blood Cancer. 2016 Mar; 63(3): 561–563. Published online 2015 Oct 27. doi: 10.1002/pbc.25814

PMCID:: PMC4724310

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Select item 468325418.

Characterization of the Mammalian CORVET and HOPS Complexes and Their Modular Restructuring for Endosome Specificity

Rik van der Kant, Caspar T. H. Jonker, Ruud H. Wijdeven, Jeroen Bakker, Lennert Janssen, Judith Klumperman, Jacques Neefjes

J Biol Chem. 2015 Dec 18; 290(51): 30280–30290. Published online 2015 Oct 13. doi: 10.1074/jbc.M115.688440

PMCID:: PMC4683254

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Select item 449795919.

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes

Danai Bem, Holly Smith, Blerida Banushi, Jemima J. Burden, Ian J. White, Joanna Hanley, Nadia Jeremiah, Frédéric Rieux-Laucat, Ruth Bettels, Gema Ariceta, Andrew D. Mumford, Steven G. Thomas, Steve P. Watson, Paul Gissen

Blood. 2015 Jul 9; 126(2): 133–143. Prepublished online 2015 May 6. doi: 10.1182/blood-2014-12-614677

PMCID:: PMC4497959

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Select item 442213820.

Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome: from molecular genetics to clinical features

Yaoyao Zhou, Junfeng Zhang

Ital J Pediatr. 2014; 40: 77. Published online 2014 Sep 20. doi: 10.1186/s13052-014-0077-3

PMCID:: PMC4422138

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