J
Joanna Pawłowska
Researcher at University of Giessen
Publications - 130
Citations - 3469
Joanna Pawłowska is an academic researcher from University of Giessen. The author has contributed to research in topics: Liver transplantation & Transplantation. The author has an hindex of 22, co-authored 124 publications receiving 3159 citations.
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Journal ArticleDOI
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
S S Strautnieks,Laura N. Bull,A.S. Knisely,S A Kocoshis,Niklas Dahl,H Arnell,Etienne Sokal,Karin Dahan,Sarah J. Childs,Ling,M. S. Tanner,Amir F. Kagalwalla,Antal Nemeth,Joanna Pawłowska,Amie Baker,Giorgina Mieli-Vergani,Nelson B. Freimer,R M Gardiner,Richard J. Thompson +18 more
TL;DR: Data provide evidence that SPGP is the human bile salt export pump (BSEP), and the product of the orthologous rat gene has been shown to be an effective bile acid transporter in vitro.
Journal ArticleDOI
Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
A.S. Knisely,Sandra Strautnieks,Yvonne Meier,Bruno Stieger,J A Byrne,Bernard Portmann,Laura N. Bull,Ludmila Pawlikowska,Banu Bilezikçi,Figen Özçay,Aranka László,László Tiszlavicz,Lynette Moore,Jeremy Raftos,Henrik Arnell,Björn Fischler,Antal Nemeth,Nikos Papadogiannakis,Joanna Cielecka-Kuszyk,Irena Jankowska,Joanna Pawłowska,Hector Melin-Aldana,Karan M. Emerick,Peter F. Whitington,Giorgina Mieli-Vergani,Richard J. Thompson +25 more
TL;DR: PFIC associated with BSEP deficiency represents a previously unrecognized risk for HCC in young children and correlates well with demonstrable mutation in ABCB11.
Journal ArticleDOI
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
S S Strautnieks,J A Byrne,Ludmila Pawlikowska,Dita Cebecauerova,Anne Rayner,Laura Dutton,Yvonne Meier,Anthony Antoniou,Bruno Stieger,Henrik Arnell,Figen Özçay,Hussa F. Al-Hussaini,Atif F. Bassas,Henkjan J. Verkade,Björn Fischler,Antal Nemeth,Radana Kotalova,Benjamin L. Shneider,Joanna Cielecka-Kuszyk,Patricia McClean,Peter F. Whitington,Etienne Sokal,Milan Jirsa,Sami Wali,Irena Jankowska,Joanna Pawłowska,Giorgina Mieli-Vergani,A.S. Knisely,Laura N. Bull,Richard J. Thompson +29 more
TL;DR: With this study, >100 ABCB11 mutations are now identified and close surveillance of BSEP-deficient patients retaining their native liver, particularly those carrying 2 null mutations, is essential.
Journal ArticleDOI
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
Leo W. J. Klomp,Julie C. Vargas,Saskia W.C. van Mil,Ludmila Pawlikowska,Ludmila Pawlikowska,Sandra Strautnieks,Michiel J. T. van Eijk,J. A. Juijn,Carlos R. Pabón-Peña,Lauren B. Smith,Joseph DeYoung,J A Byrne,Justijn Gombert,Gerda van der Brugge,Ruud Berger,Irena Jankowska,Joanna Pawłowska,Erica Villa,A. S. Knisely,Richard J. Thompson,Nelson B. Freimer,Nelson B. Freimer,Roderick H. J. Houwen,Laura N. Bull +23 more
TL;DR: The genomic organization of ATP8B1 is reported and mutation analyses of 180 families with PFIC or BRIC that identified 54 distinct disease mutations are identified, including 10 mutations predicted to disrupt splicing, 6 nonsense mutations, 11 small insertion or deletion mutations, and 24 missense mutations.
Journal ArticleDOI
Differences in presentation and progression between severe FIC1 and BSEP deficiencies
Ludmila Pawlikowska,Sandra Strautnieks,Irena Jankowska,Piotr Czubkowski,Karan M. Emerick,Anthony Antoniou,Catherine Wanty,Björn Fischler,Emmanuel Jacquemin,Sami Wali,Samra Blanchard,Inge-Merete Nielsen,Billy Bourke,Shirley McQuaid,Florence Lacaille,J A Byrne,Albertien M. van Eerde,Kaija-Leena Kolho,Leo W. J. Klomp,Roderick H. J. Houwen,Peter Bacchetti,Steven J. Lobritto,Vera Hupertz,Patricia McClean,Giorgina Mieli-Vergani,Benjamin L. Shneider,Antal Nemeth,Etienne Sokal,Nelson B. Freimer,A.S. Knisely,Philip J. Rosenthal,Peter F. Whitington,Joanna Pawłowska,Richard J. Thompson,Laura N. Bull +34 more
TL;DR: Clinical and laboratory features of disease in patients diagnosed with PFIC, who carried mutations in ATP8B1 (FIC1 deficiency) or ABCB11 (BSEP deficiency) were evaluated to identify features that distinguish presentation and course of these two disorders, thus facilitating diagnosis and elucidating the differing consequences of ATP 8B1 and ABCB 11 mutations.