L
Laura N. Bull
Researcher at University of California, San Francisco
Publications - 80
Citations - 6489
Laura N. Bull is an academic researcher from University of California, San Francisco. The author has contributed to research in topics: Cholestasis & Progressive familial intrahepatic cholestasis. The author has an hindex of 32, co-authored 79 publications receiving 5771 citations. Previous affiliations of Laura N. Bull include San Francisco General Hospital.
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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
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
Laura N. Bull,van Eijk Mj,Ludmila Pawlikowska,Joseph DeYoung,J. A. Juijn,Liao M,Leo W.J. Klomp,Noureddine Lomri,Rolf M. F. Berger,Bruce F. Scharschmidt,Bruce F. Scharschmidt,A.S. Knisely,Roderick H. J. Houwen,Nelson B. Freimer +13 more
TL;DR: This gene, called FIC1, is the first identified human member of a recently described subfamily of P-type ATPases; ATP-dependent aminophospholipid transport is the previously described function of members of this subfamily.
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
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
Saskia W.C. van Mil,Wendy L. van der Woerd,Gerda van der Brugge,Ekkehard Sturm,Peter L.M. Jansen,Laura N. Bull,Inge E.T. van den Berg,Ruud Berger,Roderick H. J. Houwen,Leo W. J. Klomp +9 more
TL;DR: Mutations in ABCB11 are associated with BRIC, and consistent with the genetic classification of PFIC into 2 subtypes, it is proposed that this disorder be named BRIC type 2.