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Items: 1 to 20 of 23

1.
Cholestasis Due to USP53 Deficiency
Laura N. Bull, Rebecca Ellmers, Pierre Foskett, Sandra Strautnieks, Melissa Sambrotta, Piotr Czubkowski, Irena Jankowska, Bart Wagner, Maesha Deheragoda, Richard J. Thompson
J Pediatr Gastroenterol Nutr. 2021 May; 72(5): 667–673. Published online 2020 Oct 16. doi: 10.1097/MPG.0000000000002926
PMCID:
PMC8549450
AbstractArticlePDF–545K
2.
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency
Daan B.E. van Wessel, Richard J. Thompson, Emmanuel Gonzales, Irena Jankowska, Benjamin L. Shneider, Etienne Sokal, Tassos Grammatikopoulos, Agustina Kadaristiana, Emmanuel Jacquemin, Anne Spraul, Patryk Lipiński, Piotr Czubkowski, Nathalie Rock, Mohammad Shagrani, Dieter Broering, Talal Algoufi, Nejat Mazhar, Emanuele Nicastro, Deirdre Kelly, Gabriella Nebbia, Henrik Arnell, Björn Fischler, Jan B.F. Hulscher, Daniele Serranti, Cigdem Arikan, Dominique Debray, Florence Lacaille, Cristina Goncalves, Loreto Hierro, Gema Muñoz Bartolo, Yael Mozer‐Glassberg, Amer Azaz, Jernej Brecelj, Antal Dezsőfi, Pier Luigi Calvo, Dorothee Krebs‐Schmitt, Steffen Hartleif, Wendy L. van der Woerd, Jian‐She Wang, Li‐ting Li, Özlem Durmaz, Nanda Kerkar, Marianne Hørby Jørgensen, Ryan Fischer, Carolina Jimenez‐Rivera, Seema Alam, Mara Cananzi, Noémie Laverdure, Cristina Targa Ferreira, Felipe Ordonez, Heng Wang, Valerie Sency, Kyung Mo Kim, Huey‐Ling Chen, Elisa Carvalho, Alexandre Fabre, Jesus Quintero Bernabeu, Estella M. Alonso, Ronald J. Sokol, Frederick J. Suchy, Kathleen M. Loomes, Patrick J. McKiernan, Philip Rosenthal, Yumirle Turmelle, Girish S. Rao, Simon Horslen, Binita M. Kamath, Maria Rogalidou, Wikrom W. Karnsakul, Bettina Hansen, Henkjan J. Verkade, Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium
Hepatology. 2021 Aug; 74(2): 892–906. Published online 2021 Jul 13. doi: 10.1002/hep.31787
PMCID:
PMC8456904
AbstractArticlePDF–464K
3.
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper
Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3
PMCID:
PMC7497289
AbstractArticlePDF–2.5M
4.
Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis
Binita M. Kamath, Philip Stein, Roderick H. J. Houwen, Henkjan J. Verkade
Liver Int. 2020 Aug; 40(8): 1812–1822. Published online 2020 Jun 22. doi: 10.1111/liv.14553
PMCID:
PMC7496162
AbstractArticlePDF–580K
5.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies
Laura N. Bull, Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, Piotr Czubkowski, Jennifer L. Dodge, Karan Emerick, Catherine Wanty, Sami Wali, Samra Blanchard, Florence Lacaille, Jane A. Byrne, Albertien M. van Eerde, Kaija‐Leena Kolho, Roderick Houwen, Steven Lobritto, Vera Hupertz, Patricia McClean, Giorgina Mieli‐Vergani, Etienne Sokal, Philip Rosenthal, Peter F. Whitington, Joanna Pawlowska, Richard J. Thompson
Hepatol Commun. 2018 May; 2(5): 515–528. Published online 2018 Mar 30. doi: 10.1002/hep4.1168
PMCID:
PMC5944593
AbstractArticlePDF–345K
6.
Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis
Binita M. Kamath, Linda Abetz-Webb, Ciara Kennedy, Bonnie Hepburn, Martha Gauthier, Nathan Johnson, Sharon Medendorp, Alejandro Dorenbaum, Lora Todorova, Benjamin L. Shneider
Patient. 2018; 11(1): 69–82. Published online 2017 Jul 14. doi: 10.1007/s40271-017-0266-4
PMCID:
PMC5766715
AbstractArticlePDF–625K
7.
An expanded role for heterozygous mutations of ABCB4, ABCB11, ATP8B1, ABCC2 and TJP2 in intrahepatic cholestasis of pregnancy
Peter H. Dixon, Melissa Sambrotta, Jennifer Chambers, Pamela Taylor-Harris, Argyro Syngelaki, Kypros Nicolaides, A. S. Knisely, Richard J. Thompson, Catherine Williamson
Sci Rep. 2017; 7: 11823. Published online 2017 Sep 18. doi: 10.1038/s41598-017-11626-x
PMCID:
PMC5603585
AbstractArticlePDF–1.2M
8.
Defects in myosin VB are associated with a spectrum of previously undiagnosed low γ‐glutamyltransferase cholestasis
Yi‐Ling Qiu, Jing‐Yu Gong, Jia‐Yan Feng, Ren‐Xue Wang, Jun Han, Teng Liu, Yi Lu, Li‐Ting Li, Mei‐Hong Zhang, Jonathan A. Sheps, Neng‐Li Wang, Yan‐Yan Yan, Jia‐Qi Li, Lian Chen, Christoph H. Borchers, Bence Sipos, A.S. Knisely, Victor Ling, Qing‐He Xing, Jian‐She Wang
Hepatology. 2017 May; 65(5): 1655–1669. Published online 2017 Mar 23. doi: 10.1002/hep.29020
Correction in:
Hepatology. 2017 Nov; 66(5): 1708–1709.
PMCID:
PMC5413810
AbstractArticlePDF–910K
9.
Analysis of surgical interruption of the enterohepatic circulation as a treatment for pediatric cholestasis
Kasper S. Wang, Greg Tiao, Lee M. Bass, Paula M. Hertel, Douglas Mogul, Nanda Kerkar, Matthew Clifton, Colleen Azen, Laura Bull, Philip Rosenthal, Dylan Stewart, Riccardo Superina, Ronen Arnon, Molly Bozic, Mary L. Brandt, Patrick A. Dillon, Annie Fecteau, Kishore Iyer, Binita Kamath, Saul Karpen, Frederick Karrer, Kathleen M. Loomes, Cara Mack, Peter Mattei, Alexander Miethke, Kyle Soltys, Yumirle P. Turmelle, Karen West, Jessica Zagory, Cat Goodhue, Benjamin L. Shneider
Hepatology. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Hepatology. 2017 May; 65(5): 1645–1654. Published online 2017 Mar 22. doi: 10.1002/hep.29019
PMCID:
PMC5397365
AbstractArticlePDF–796K
10.
Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization
Andrew R Cullinane, Anna Straatman-Iwanowska, Andreas Zaucker, Yoshiyuki Wakabayashi, Christopher K Bruce, Guanmei Luo, Fatimah Rahman, Figen Gürakan, Eda Utine, Tanju B Özkan, Jonas Denecke, Jurica Vukovic, Maja Di Rocco, Hanna Mandel, Hakan Cangul, Randolph P Matthews, Steve G Thomas, Joshua Z Rappoport, Irwin M Arias, Hartwig Wolburg, A S Knisely, Deirdre A Kelly, Ferenc Müller, Eamonn R Maher, Paul Gissen
Nat Genet. Author manuscript; available in PMC 2017 Feb 14.
Published in final edited form as: Nat Genet. 2010 Apr; 42(4): 303–312. Published online 2010 Feb 28. doi: 10.1038/ng.538
PMCID:
PMC5308204
AbstractArticlePDF–886K
11.
Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4
Vincent A. van der Mark, Mohammed Ghiboub, Casper Marsman, Jing Zhao, Remco van Dijk, Johan K. Hiralall, Kam S. Ho-Mok, Zoë Castricum, Wouter J. de Jonge, Ronald P. J. Oude Elferink, Coen C. Paulusma
Cell Mol Life Sci. 2017 Feb; 74(4): 715–730. Published online 2016 Sep 14. doi: 10.1007/s00018-016-2360-5
Correction in:
Cell Mol Life Sci. 2017 Apr; 74(7): 1365.
PMCID:
PMC5272906
AbstractArticlePDF–4.2M
12.
P4-ATPases as Phospholipid Flippases—Structure, Function, and Enigmas
Jens P. Andersen, Anna L. Vestergaard, Stine A. Mikkelsen, Louise S. Mogensen, Madhavan Chalat, Robert S. Molday
Front Physiol. 2016; 7: 275. Published online 2016 Jul 8. doi: 10.3389/fphys.2016.00275
PMCID:
PMC4937031
AbstractArticlePDF–6.5M
13.
The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency
Neng-Li Wang, Li-Ting Li, Bing-Bing Wu, Jing-Yu Gong, Kuerbanjiang Abuduxikuer, Gang Li, Jian-She Wang
PLoS One. 2016; 11(4): e0153114. Published online 2016 Apr 6. doi: 10.1371/journal.pone.0153114
PMCID:
PMC4822785
AbstractArticlePDF–355K
14.
Phospholipid Flippase Activities and Substrate Specificities of Human Type IV P-type ATPases Localized to the Plasma Membrane
Hiroyuki Takatsu, Gaku Tanaka, Katsumori Segawa, Jun Suzuki, Shigekazu Nagata, Kazuhisa Nakayama, Hye-Won Shin
J Biol Chem. 2014 Nov 28; 289(48): 33543–33556. Published online 2013 Oct 14. doi: 10.1074/jbc.M114.593012
Correction in:
J Biol Chem. 2016 Oct 7; 291(41): 21421.
PMCID:
PMC4246107
AbstractArticlePDF–3.8M
15.
GENETIC DEFECTS IN BILE ACID CONJUGATION CAUSE FAT-SOLUBLE VITAMIN DEFICIENCY
Kenneth D. R. Setchell, James E. Heubi, Sohela Shah, Joel E. Lavine, David Suskind, Mohammed Al-Edreesi, Carol Potter, David W. Russell, Nancy C. O'Connell, Brian Wolfe, Pinky Jha, Wujuan Zhang, Kevin E. Bove, Alex S. Knisely, Alan F. Hofmann, Philip Rosenthal, Laura N. Bull
Gastroenterology. Author manuscript; available in PMC 2014 Sep 25.
Published in final edited form as: Gastroenterology. 2013 May; 144(5): 945–e15. Published online 2013 Feb 13. doi: 10.1053/j.gastro.2013.02.004
PMCID:
PMC4175397
AbstractArticlePDF–2.3M
16.
Progressive Familial Intrahepatic Cholestasis
Anshu Srivastava
J Clin Exp Hepatol. 2014 Mar; 4(1): 25–36. Published online 2013 Nov 23. doi: 10.1016/j.jceh.2013.10.005
PMCID:
PMC4017198
AbstractArticlePDF–1012K
17.
Long-Term Therapy of a Patient with Summerskill-Walshe-Tygstrup Syndrome by Applying Prometheus® Liver Dialysis: A Case Report
Mikolaj Walensi, Ali Canbay, Oliver Witzke, Guido Gerken, Alisan Kahraman
Case Rep Gastroenterol. 2012 May-Aug; 6(2): 550–556. Published online 2012 Aug 23. doi: 10.1159/000342348
PMCID:
PMC3433004
AbstractArticlePDF–815K
18.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Ludmila Pawlikowska, Sandra Strautnieks, Irena Jankowska, Piotr Czubkowski, Karan Emerick, Anthony Antoniou, Catherine Wanty, Bjorn Fischler, Emmanuel Jacquemin, Sami Wali, Samra Blanchard, Inge-Merete Nielsen, Billy Bourke, Shirley McQuaid, Florence Lacaille, Jane A. Byrne, Albertien M. van Eerde, Kaija-Leena Kolho, Leo Klomp, Roderick Houwen, Peter Bacchetti, Steven Lobritto, Vera Hupertz, Patricia McClean, Giorgina Mieli-Vergani, Benjamin Shneider, Antal Nemeth, Etienne Sokal, Nelson B. Freimer, A.S. Knisely, Philip Rosenthal, Peter F. Whitington, Joanna Pawlowska, Richard J. Thompson, Laura N. Bull
J Hepatol. Author manuscript; available in PMC 2011 Jul 1.
Published in final edited form as: J Hepatol. 2010 Jul; 53(1): 170–178. Published online 2010 Apr 13. doi: 10.1016/j.jhep.2010.01.034
PMCID:
PMC3042805
AbstractArticlePDF–808K
19.
ATP8B1 is essential for maintaining normal hearing
Janneke M. Stapelbroek, Theo A. Peters, Denis H. A. van Beurden, Jo H. A. J. Curfs, Anneke Joosten, Andy J. Beynon, Bibian M. van Leeuwen, Lieke M. van der Velden, Laura Bull, Ronald P. Oude Elferink, Bert A. van Zanten, Leo W. J. Klomp, Roderick H. J. Houwen
Proc Natl Acad Sci U S A. 2009 Jun 16; 106(24): 9709–9714. Published online 2009 May 28. doi: 10.1073/pnas.0807919106
PMCID:
PMC2700994
AbstractArticlePDF–1.3M
20.
Activity of the Bile Salt Export Pump (ABCB11) Is Critically Dependent on Canalicular Membrane Cholesterol Content
Coen C. Paulusma, D. Rudi de Waart, Cindy Kunne, Kam S. Mok, Ronald P. J. Oude Elferink
J Biol Chem. 2009 Apr 10; 284(15): 9947–9954. doi: 10.1074/jbc.M808667200
PMCID:
PMC2665118
AbstractArticlePDF–601K

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