Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis
Grammatikopoulos, Tassos, Sambrotta, Melissa, Strautnieks, Sandra, Foskett, Pierre, Knisely, A.S, Wagner, Bart, Deheragoda, Maesha, Starling, Chris, Mieli-Vergani, Giorgina, Smith, Joshua, Bull, Laura, Thompson, Richard J
Published in Journal of hepatology (01.12.2016)
Published in Journal of hepatology (01.12.2016)
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Generation of Rat Pancreas in Mouse by Interspecific Blastocyst Injection of Pluripotent Stem Cells
Kobayashi, Toshihiro, Yamaguchi, Tomoyuki, Hamanaka, Sanae, Kato-Itoh, Megumi, Yamazaki, Yuji, Ibata, Makoto, Sato, Hideyuki, Lee, Youn-Su, Usui, Jo-ichi, Knisely, A.S., Hirabayashi, Masumi, Nakauchi, Hiromitsu
Published in Cell (03.09.2010)
Published in Cell (03.09.2010)
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Journal Article
Liver Biopsy in High-risk Children: Which Way to Go?
Dezsőfi, Antal, Knisely, A.S.
Published in Journal of pediatric gastroenterology and nutrition (01.04.2020)
Published in Journal of pediatric gastroenterology and nutrition (01.04.2020)
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Journal Article
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver
van de Steeg, Evita, Stránecký, Viktor, Hartmannová, Hana, Nosková, Lenka, Hřebíček, Martin, Wagenaar, Els, van Esch, Anita, de Waart, Dirk R, Oude Elferink, Ronald P J, Kenworthy, Kathryn E, Sticová, Eva, al-Edreesi, Mohammad, Knisely, A S, Kmoch, Stanislav, Jirsa, Milan, Schinkel, Alfred H
Published in The Journal of clinical investigation (01.02.2012)
Published in The Journal of clinical investigation (01.02.2012)
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Journal Article
Mutations in TJP2 cause progressive cholestatic liver disease
Sambrotta, Melissa, Strautnieks, Sandra, Papouli, Efterpi, Rushton, Peter, Clark, Barnaby E, Parry, David A, Logan, Clare V, Newbury, Lucy J, Kamath, Binita M, Ling, Simon, Grammatikopoulos, Tassos, Wagner, Bart E, Magee, John C, Sokol, Ronald J, Mieli-Vergani, Giorgina, Smith, Joshua D, Johnson, Colin A, McClean, Patricia, Simpson, Michael A, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Nature genetics (01.04.2014)
Published in Nature genetics (01.04.2014)
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Journal Article
Vps33b is crucial for structural and functional hepatocyte polarity
Hanley, Joanna, Dhar, Dipok Kumar, Mazzacuva, Francesca, Fiadeiro, Rebeca, Burden, Jemima J, Lyne, Anne-Marie, Smith, Holly, Straatman-Iwanowska, Anna, Banushi, Blerida, Virasami, Alex, Mills, Kevin, Lemaigre, Frédéric P, Knisely, A.S, Howe, Steven, Sebire, Neil, Waddington, Simon N, Paulusma, Coen C, Clayton, Peter, Gissen, Paul
Published in Journal of hepatology (01.05.2017)
Published in Journal of hepatology (01.05.2017)
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Journal Article
Maternal cholestasis during pregnancy programs metabolic disease in offspring
Papacleovoulou, Georgia, Abu-Hayyeh, Shadi, Nikolopoulou, Evanthia, Briz, Oscar, Owen, Bryn M, Nikolova, Vanya, Ovadia, Caroline, Huang, Xiao, Vaarasmaki, Marja, Baumann, Marc, Jansen, Eugene, Albrecht, Christiane, Jarvelin, Marjo-Riitta, Marin, Jose J G, Knisely, A S, Williamson, Catherine
Published in The Journal of clinical investigation (01.07.2013)
Published in The Journal of clinical investigation (01.07.2013)
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Journal Article
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Pawlikowska, Ludmila, Strautnieks, Sandra, Jankowska, Irena, Czubkowski, Piotr, Emerick, Karan, Antoniou, Anthony, Wanty, Catherine, Fischler, Bjorn, Jacquemin, Emmanuel, Wali, Sami, Blanchard, Samra, Nielsen, Inge-Merete, Bourke, Billy, McQuaid, Shirley, Lacaille, Florence, Byrne, Jane A, van Eerde, Albertien M, Kolho, Kaija-Leena, Klomp, Leo, Houwen, Roderick, Bacchetti, Peter, Lobritto, Steven, Hupertz, Vera, McClean, Patricia, Mieli-Vergani, Giorgina, Shneider, Benjamin, Nemeth, Antal, Sokal, Etienne, Freimer, Nelson B, Knisely, A.S, Rosenthal, Philip, Whitington, Peter F, Pawlowska, Joanna, Thompson, Richard J, Bull, Laura N
Published in Journal of hepatology (01.07.2010)
Published in Journal of hepatology (01.07.2010)
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Journal Article
Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations
Fotoulaki, Maria, Giza, Styliani, Jirsa, Milan, Grammatikopoulos, Tassos, Miquel, Rosa, Hytiroglou, Prodromos, Tsitouridis, Ioannis, Knisely, A S
Published in Pediatrics (Evanston) (01.05.2019)
Published in Pediatrics (Evanston) (01.05.2019)
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Journal Article
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry
Gong, Jing-Yu, Setchell, Kenneth D.R, Zhao, Jing, Zhang, Wujuan, Wolfe, Brian, Lu, Yi, Lackner, Karolin, Knisely, A.S, Wang, Neng-Li, Hao, Chen-Zhi, Zhang, Mei-Hong, Wang, Jian-She
Published in Journal of pediatric gastroenterology and nutrition (01.11.2017)
Published in Journal of pediatric gastroenterology and nutrition (01.11.2017)
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Journal Article
Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre‐messenger RNA splicing
Byrne, Jane A., Strautnieks, Sandra S., Ihrke, Gudrun, Pagani, Franco, Knisely, A.S., Linton, Kenneth J., Mieli‐Vergani, Giorgina, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.02.2009)
Published in Hepatology (Baltimore, Md.) (01.02.2009)
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Journal Article
Severe Deoxyguanosine Kinase Deficiency in Austria: A 6-Patient Series
Waich, Stephanie, Roscher, Anne, Brunner-Krainz, Michaela, Cortina, Gerard, Köstl, Gerhard, Feichtinger, Rene G, Entenmann, Andreas, Müller, Thomas, Knisely, A.S, Mayr, Johannes A, Janecke, Andreas R, Vodopiutz, Julia
Published in Journal of pediatric gastroenterology and nutrition (01.01.2019)
Published in Journal of pediatric gastroenterology and nutrition (01.01.2019)
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Journal Article
Paediatric hepatocellular carcinoma due to somatic CTNNB1 and NFE2L2 mutations in the setting of inherited bi-allelic ABCB11 mutations
Vilarinho, Sílvia, Erson-Omay, E. Zeynep, Harmanci, Akdes Serin, Morotti, Raffaella, Carrion-Grant, Geneive, Baranoski, Jacob, Knisely, A.S, Ekong, Udeme, Emre, Sukru, Yasuno, Katsuhito, Bilguvar, Kaya, Günel, Murat
Published in Journal of hepatology (01.11.2014)
Published in Journal of hepatology (01.11.2014)
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Journal Article
Bile salt export pump: a sensitive and specific immunohistochemical marker of hepatocellular carcinoma
Lagana, Stephen M, Salomao, Marcela, Remotti, Helen E, Knisely, A.S., Moreira, Roger K
Published in Histopathology (01.03.2015)
Published in Histopathology (01.03.2015)
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Journal Article
Nomenclature of the finer branches of the biliary tree: Canals, ductules, and ductular reactions in human livers
Roskams, Tania A., Theise, Neil D., Balabaud, Charles, Bhagat, Govind, Bhathal, Prithi S., Bioulac‐Sage, Paulette, Brunt, Elizabeth M., Crawford, James M., Crosby, Heather A., Desmet, Valeer, Finegold, Milton J., Geller, Stephen A., Gouw, Annette S.H., Hytiroglou, Prodromos, Knisely, A.S., Kojiro, Masamichi, Lefkowitch, Jay H., Nakanuma, Yasuni, Olynyk, John K., Nyun Park, Young, Portmann, Bernard, Saxena, Romil, Scheuer, Peter J., Strain, Alastair J., Thung, Swan N., Wanless, Ian R., West, A. Brian
Published in Hepatology (Baltimore, Md.) (01.06.2004)
Published in Hepatology (Baltimore, Md.) (01.06.2004)
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The lipid flippase heterodimer ATP8B1–CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells
van der Mark, Vincent A., de Waart, D. Rudi, Ho-Mok, Kam S., Tabbers, Merit M., Voogt, Heleen W., Oude Elferink, Ronald P.J., Knisely, A.S., Paulusma, Coen C.
Published in Biochimica et biophysica acta (01.12.2014)
Published in Biochimica et biophysica acta (01.12.2014)
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Journal Article
Anti‐CD20 Monoclonal Antibody Therapy in Functional Bile Salt Export Pump Deficiency After Liver Transplantation
Grammatikopoulos, Tassos, Knisely, A.S., Dhawan, Anil, Hadzic, Nedim, Thompson, Richard J.
Published in Journal of pediatric gastroenterology and nutrition (01.06.2015)
Published in Journal of pediatric gastroenterology and nutrition (01.06.2015)
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Journal Article
ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization
Bruurs, Lucas J M, Donker, Lisa, Zwakenberg, Susan, Zwartkruis, Fried J, Begthel, Harry, Knisely, A S, Posthuma, George, van de Graaf, Stan F J, Paulusma, Coen C, Bos, Johannes L
Published in The Journal of cell biology (28.09.2015)
Published in The Journal of cell biology (28.09.2015)
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