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There are 13725 results for: content related to: Novel splice-site mutation in ATP8B1 results in atypical P rogressive F amilial I ntrahepatic C holestasis T ype 1

  1. You have free access to this content
    Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA

    Hepatology

    Volume 61, Issue 4, April 2015, Pages: 1382–1391, Wendy L. van der Woerd, Johanna Mulder, Franco Pagani, Ulrich Beuers, Roderick H.J. Houwen and Stan F.J. van de Graaf

    Version of Record online : 23 FEB 2015, DOI: 10.1002/hep.27620

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    Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate

    Hepatology

    Volume 51, Issue 1, January 2010, Pages: 286–296, Lieke M. van der Velden, Janneke M. Stapelbroek, Elmar Krieger, Peter V. E. van den Berghe, Ruud Berger, Patricia M. Verhulst, Joost C. M. Holthuis, Roderick H. J. Houwen, Leo W. J. Klomp and Stan F. J. van de Graaf

    Version of Record online : 4 SEP 2009, DOI: 10.1002/hep.23268

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    Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1

    Hepatology

    Volume 50, Issue 5, November 2009, Pages: 1597–1605, Dineke E. Folmer, Vincent A. van der Mark, Kam S. Ho-Mok, Ronald P.J. Oude Elferink and Coen C. Paulusma

    Version of Record online : 7 JUL 2009, DOI: 10.1002/hep.23158

  4. Mining the idiopathic genetic cholestasis syndrome

    Journal of Gastroenterology and Hepatology

    Volume 28, Issue 3, March 2013, Pages: 389–391, Huey-Ling Chen

    Version of Record online : 26 FEB 2013, DOI: 10.1111/jgh.12114

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    Canalicular ABC transporters and liver disease

    The Journal of Pathology

    Volume 226, Issue 2, January 2012, Pages: 300–315, Michael Nicolaou, Edward J Andress, Joseph K Zolnerciks, Peter H Dixon, Catherine Williamson and Kenneth J Linton

    Version of Record online : 1 DEC 2011, DOI: 10.1002/path.3019

  6. Exome sequencing reveals compound heterozygous mutations in ATP8B1 in a JAG1/NOTCH2 mutation-negative patient with clinically diagnosed Alagille syndrome

    American Journal of Medical Genetics Part A

    Volume 167, Issue 4, April 2015, Pages: 891–893, Christopher M. Grochowski, Ramakrishnan Rajagopalan, Alexandra M. Falsey, Kathleen M. Loomes, David A. Piccoli, Ian D. Krantz, Marcella Devoto and Nancy B. Spinner

    Version of Record online : 3 MAR 2015, DOI: 10.1002/ajmg.a.36946

  7. You have full text access to this OnlineOpen article
    miR-33 controls the expression of biliary transporters, and mediates statin- and diet-induced hepatotoxicity

    EMBO Molecular Medicine

    Volume 4, Issue 9, September 2012, Pages: 882–895, Ryan M. Allen, Tyler J. Marquart, Carolyn J. Albert, Frederick J. Suchy, David Q.-H. Wang, Meenakshisundaram Ananthanarayanan, David A. Ford and Ángel Baldán

    Version of Record online : 5 JUL 2012, DOI: 10.1002/emmm.201201228

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    Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation

    Hepatology

    Volume 43, Issue 5, May 2006, Pages: 1125–1134, Christine Demeilliers, Emmanuel Jacquemin, Véronique Barbu, Martine Mergey, François Paye, Laura Fouassier, Nicolas Chignard, Chantal Housset and Nour-Eddine Lomri

    Version of Record online : 20 APR 2006, DOI: 10.1002/hep.21160

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    Characterization of mutations in ATP8B1 associated with hereditary cholestasis

    Hepatology

    Volume 40, Issue 1, July 2004, Pages: 27–38, Leo W. J. Klomp, Julie C. Vargas, Saskia W. C. van Mil, Ludmila Pawlikowska, Sandra S. Strautnieks, Michiel J. T. van Eijk, Jenneke A. Juijn, Carlos Pabón-Peña, Lauren B. Smith, Joseph A. DeYoung, Jane A. Byrne, Justijn Gombert, Gerda van der Brugge, Ruud Berger, Irena Jankowska, Joanna Pawlowska, Erica Villa, A. S. Knisely, Richard J. Thompson, Nelson B. Freimer, Roderick H. J. Houwen and Laura N. Bull

    Version of Record online : 30 JUN 2004, DOI: 10.1002/hep.20285

  10. Inheritable Cholestatic Disorders

    The Liver: Biology and Pathobiology, Fifth Edition

    Paul Gissen, A. S. Knisely, Pages: 659–679, 2009

    Published Online : 6 OCT 2009, DOI: 10.1002/9780470747919.ch42

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    Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport

    Hepatology

    Volume 44, Issue 1, July 2006, Pages: 195–204, Coen C. Paulusma, Annemiek Groen, Cindy Kunne, Kam S. Ho-Mok, Astrid L. Spijkerboer, D. Rudi de Waart, Frans J. Hoek, Heleen Vreeling, Kees A. Hoeben, Jan van Marle, Ludmila Pawlikowska, Laura N. Bull, Alan F. Hofmann, A. S. Knisely and Ronald P. J. Oude Elferink

    Version of Record online : 23 JUN 2006, DOI: 10.1002/hep.21212

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    P4 ATPases – The physiological relevance of lipid flipping transporters

    FEBS Letters

    Volume 584, Issue 13, July 02, 2010, Pages: 2708–2716, Coen C. Paulusma and Ronald P.J. Oude Elferink

    Version of Record online : 7 MAY 2010, DOI: 10.1016/j.febslet.2010.04.071

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    ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity

    Hepatology

    Volume 47, Issue 1, January 2008, Pages: 268–278, Coen C. Paulusma, Dineke E. Folmer, Kam S. Ho-Mok, D. Rudi de Waart, Petra M. Hilarius, Arthur J. Verhoeven and Ronald P. J. Oude Elferink

    Version of Record online : 19 OCT 2007, DOI: 10.1002/hep.21950

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    ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): Phenotypic differences between PFIC1 and PFIC2 and natural history

    Hepatology

    Volume 51, Issue 5, May 2010, Pages: 1645–1655, Anne Davit-Spraul, Monique Fabre, Sophie Branchereau, Christiane Baussan, Emmanuel Gonzales, Bruno Stieger, Olivier Bernard and Emmanuel Jacquemin

    Version of Record online : 28 JAN 2010, DOI: 10.1002/hep.23539

  15. Recovery of graft steatosis and protein-losing enteropathy after biliary diversion in a PFIC 1 liver transplanted child

    Pediatric Transplantation

    Volume 16, Issue 5, August 2012, Pages: E177–E182, Emanuele Nicastro, Xavier Stephenne, Françoise Smets, Fabio Fusaro, Catherine de Magnée, Raymond Reding and Etienne M. Sokal

    Version of Record online : 15 JUN 2011, DOI: 10.1111/j.1399-3046.2011.01514.x

  16. Characterization and treatment of persistent hepatocellular secretory failure

    Liver International

    Volume 35, Issue 4, April 2015, Pages: 1478–1488, Remco van Dijk, Andreas E. Kremer, Wouter Smit, Bram van den Elzen, Thomas van Gulik, Dirk Gouma, Johan S. Lameris, Hennie Bikker, Valentine Enemuo, Pieter C. F. Stokkers, Mark Feist, Piter Bosma, Peter L. M. Jansen and Ulrich Beuers

    Version of Record online : 4 JUL 2014, DOI: 10.1111/liv.12603

  17. The Jaundiced Baby

    Diseases of the Liver and Biliary System in Children, Third Edition

    Deirdre Kelly, Pages: 55–105, 2009

    Published Online : 28 JAN 2009, DOI: 10.1002/9781444300536.ch4

  18. Flip or Flop: Mechanism and (Patho)Physiology of P4-ATPase-Catalyzed Lipid Transport

    Transmembrane Dynamics of Lipids

    Patricia M. Verhulst, Joost C. M. Holthuis, Thomas G. Pomorski, Pages: 147–170, 2011

    Published Online : 14 OCT 2011, DOI: 10.1002/9781118120118.ch8

  19. Single nucleotide polymorphism rs3732860 in the 3′-untranslated region of CYP8B1 gene is associated with gallstone disease in Han Chinese

    Journal of Gastroenterology and Hepatology

    Volume 28, Issue 4, April 2013, Pages: 717–722, Jian Qin, Tian-Quan Han, Wen-Tao Yuan, Jing Zhang, Jian Fei, Zhao-Yan Jiang, Zhen-Min Niu, Kai-Yue Zhang, Qi Hua, Xing-Xing Cai, Shi-Jie Xu, Wei Huang and Sheng-Dao Zhang

    Version of Record online : 25 MAR 2013, DOI: 10.1111/jgh.12089

  20. Adult progressive intrahepatic cholestasis associated with genetic variations in ATP8B1 and ABCB11

    Hepatology Research

    Volume 39, Issue 6, June 2009, Pages: 625–631, Yao-Chun Hsu, Huey-Ling Chen, Mu-Zon Wu, Yu-Jung Liu, Po-Huang Lee, Jin-Chuan Sheu and Chien-Hung Chen

    Version of Record online : 27 FEB 2009, DOI: 10.1111/j.1872-034X.2009.00499.x