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
The human bile salt export pump: characterization of substrate specificity and identification of inhibitors
Byrne, Jane A, Strautnieks, Sandra S, Mieli-Vergani, Giorgina, Higgins, Christopher F, Linton, Kenneth J, Thompson, Richard J
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
Published in Gastroenterology (New York, N.Y. 1943) (01.11.2002)
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Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
Strautnieks, Sandra S, Byrne, Jane A, Pawlikowska, Ludmila, Cebecauerová, Dita, Rayner, Anne, Dutton, Laura, Meier, Yvonne, Antoniou, Anthony, Stieger, Bruno, Arnell, Henrik, Ozçay, Figen, Al-Hussaini, Hussa F, Bassas, Atif F, Verkade, Henkjan J, Fischler, Björn, Németh, Antal, Kotalová, Radana, Shneider, Benjamin L, Cielecka-Kuszyk, Joanna, McClean, Patricia, Whitington, Peter F, Sokal, Etienne, Jirsa, Milan, Wali, Sami H, Jankowska, Irena, Pawłowska, Joanna, Mieli-Vergani, Giorgina, Knisely, A S, Bull, Laura N, Thompson, Richard J
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2008)
Published in Gastroenterology (New York, N.Y. 1943) (01.04.2008)
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Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
Knisely, A. S., Strautnieks, Sandra S., Meier, Yvonne, Stieger, Bruno, Byrne, Jane A., Portmann, Bernard C., Bull, Laura N., Pawlikowska, Ludmila, Bilezikçi, Banu, Özçay, Figen, László, Aranka, Tiszlavicz, László, Moore, Lynette, Raftos, Jeremy, Arnell, Henrik, Fischler, Björn, Németh, Antal, Papadogiannakis, Nikos, Cielecka‐Kuszyk, Joanna, Jankowska, Irena, Pawłowska, Joanna, Melín‐Aldana, Hector, Emerick, Karan M., Whitington, Peter F., Mieli‐Vergani, Giorgina, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (01.08.2006)
Published in Hepatology (Baltimore, Md.) (01.08.2006)
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Journal Article
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
Klomp, Leo W. J., Vargas, Julie C., van Mil, Saskia W. C., Pawlikowska, Ludmila, Strautnieks, Sandra S., van Eijk, Michiel J. T., Juijn, Jenneke A., Pabón‐Peña, Carlos, Smith, Lauren B., DeYoung, Joseph A., Byrne, Jane A., Gombert, Justijn, van der Brugge, Gerda, Berger, Ruud, Jankowska, Irena, Pawlowska, Joanna, Villa, Erica, Knisely, A. S., Thompson, Richard J., Freimer, Nelson B., Houwen, Roderick H. J., Bull, Laura N.
Published in Hepatology (Baltimore, Md.) (01.07.2004)
Published in Hepatology (Baltimore, Md.) (01.07.2004)
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Journal Article
Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity
Chen, Frank, Ananthanarayanan, M, Emre, Sukru, Neimark, Ezequiel, Bull, Laura N, Knisely, A S, Strautnieks, Sandra S, Thompson, Richard J, Magid, Margret S, Gordon, Ronald, Balasubramanian, N, Suchy, Frederick J, Shneider, Benjamin L
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2004)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2004)
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Journal Article
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
Tanner, M. Stuart, Sokal, Etienne, Strautnieks, Sandra S, Dahan, Karine, Pawlowska, Joanna, Dahl, Niklas, Freimer, Nelson B, Gardiner, R. Mark, Childs, Sarah, Kagalwalla, Amir F, Knisely, Alexander S, Thompson, Richard J, Ling, Victor, Németh, Antal, Baker, Alastair, Arnell, Henrik, Kocoshis, Samuel A, Mieli-Vergani, Giorgina, Bull, Laura N
Published in Nature genetics (01.11.1998)
Published in Nature genetics (01.11.1998)
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Journal Article
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
Jansen, P L, Strautnieks, S S, Jacquemin, E, Hadchouel, M, Sokal, E M, Hooiveld, G J, Koning, J H, De Jager-Krikken, A, Kuipers, F, Stellaard, F, Bijleveld, C M, Gouw, A, Van Goor, H, Thompson, R J, Müller, M
Published in Gastroenterology (New York, N.Y. 1943) (01.12.1999)
Published in Gastroenterology (New York, N.Y. 1943) (01.12.1999)
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VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: Incomplete ARC syndrome phenotype
Bull, Laura N., Mahmoodi, Venus, Baker, Alastair J., Jones, Rosamond, Strautnieks, Sandra S., Thompson, Richard J., Knisely, A.S.
Published in The Journal of pediatrics (01.02.2006)
Published in The Journal of pediatrics (01.02.2006)
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Journal Article
Absence of linkage of the epithelial sodium channel to hypertension in black Caribbeans
Munroe, Patricia B, Strautnieks, Sandra S, Farrall, Martin, Daniel, Harold I, Lawson, Mary, DeFreitas, Perry, Fogarty, Paul, Gardiner, R.Mark, Caulfield, Mark
Published in American journal of hypertension (01.08.1998)
Published in American journal of hypertension (01.08.1998)
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Journal Article
Identification of a Locus for Progressive Familial Intrahepatic Cholestasis PFIC2on Chromosome 2q24
Strautnieks, Sandra S., Kagalwalla, Amir F., Tanner, M. Stuart, Knisely, A.S., Bull, Laura, Freimer, Nelson, Kocoshis, Sam A., Gardiner, R. Mark, Thompson, Richard J.
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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Journal Article
Identification of a locus for progressive familial intrahepatic cholestasis PFIC2 on chromosome 2q24
STRAUTNIEKS, S. S, KAGALWALLA, A. F, TANNER, M. S, KNISELY, A. S, BULL, L, FREIMER, N, KOCOSHIS, S. A, GARDINER, R. M, THOMPSON, R. J
Published in American journal of human genetics (01.09.1997)
Published in American journal of human genetics (01.09.1997)
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Journal Article
Localisation of Pseudohypoaldosteronism Genes to Chromosome 16p12.2–13.11 and 12p13.1-Pter by Homozygosity Mapping
Strautnieks, Sandra S., Thompson, Richard J., Hanukoglu, Aaron, Dillon, Michael J., Hanukoglu, Israel, Kuhnle, Ursula, Seckl, Jonathan, Gardiner, R. Mark, Chung, Eddie
Published in Human molecular genetics (01.02.1996)
Published in Human molecular genetics (01.02.1996)
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Journal Article
Gene Structure of the Human Amiloride-Sensitive Epithelial Sodium Channel Beta Subunit
Saxena, Anjana, Hanukoglu, Israel, Strautnieks, Sandra S., Thompson, Richard J., Gardiner, R.Mark, Hanukoglu, Aaron
Published in Biochemical and biophysical research communications (09.11.1998)
Published in Biochemical and biophysical research communications (09.11.1998)
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Journal Article
Locus heterogeneity in progressive familial intrahepatic cholestasis
Strautnieks, S S, Kagalwalla, A F, Tanner, M S, Gardiner, R M, Thompson, R J
Published in Journal of medical genetics (01.10.1996)
Published in Journal of medical genetics (01.10.1996)
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Journal Article
669 Surgical intervention outcomes in FIC1 (ATP8B1) and BSEP (ABCB11) disease
Pawlikowska, Ludmilla, Strautnieks, Sandra S., Czubkowski, Piotr, Antoniou, Anthony, Byrne, Jane, Bourke, Billy, Wali, Sami, Lobritto, S., Nielsen, Im, Blanchard, S., McClean, Patricia, Sharp, H., Rosenthal, Phil, Jacquemin, Emmanuel, Hadchouel, Michelle, Mieli-Vergani, Giorgina, Nemeth, Antal, Fischler, Bjohn, Whitington, Peter, Knisely, Alex, Jankowska, Irene, Pawlowska, Joanna, Bull, Laura, Thompson, Richard J.
Published in Hepatology (Baltimore, Md.) (2003)
Published in Hepatology (Baltimore, Md.) (2003)
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