Literature DB >> 22387667

ABCB4/MDR3 gene mutations and cholangiocarcinomas.

David Tougeron, Ginette Fotsing, Veronique Barbu, Michel Beauchant.   

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Year:  2012        PMID： 22387667     DOI： 10.1016/j.jhep.2012.01.025

Source DB:  PubMed          Journal:  J Hepatol        ISSN： 0168-8278            Impact factor:   25.083


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  14 in total

1.  A novel pathogenic variant of ATP-binding cassette subfamily B member 4 causing gallstones in a young adult.

Authors:  Tetsuya Ishizawa; Naohiko Makino; Yasuharu Kakizaki; Yoshiaki Ando; Akiko Matsuda; Toshikazu Kobayashi; Chisaki Ikeda; Shinpei Sugahara; Michihiko Tsunoda; Hidenori Sato; Ryoko Murakami; Yoshiyuki Ueno
Journal:  Clin J Gastroenterol       Date:  2019-05-21

2.  ABCB4 mutations in adult patients with cholestatic liver disease: impact and phenotypic expression.

Authors:  Dario Degiorgio; Andrea Crosignani; Carla Colombo; Domenico Bordo; Massimo Zuin; Emanuela Vassallo; Marie-Louise Syrén; Domenico A Coviello; Pier Maria Battezzati
Journal:  J Gastroenterol       Date:  2015-09-01       Impact factor: 7.527

3.  Structure of the human lipid exporter ABCB4 in a lipid environment.

Authors:  Jeppe A Olsen; Amer Alam; Julia Kowal; Bruno Stieger; Kaspar P Locher
Journal:  Nat Struct Mol Biol       Date:  2019-12-23       Impact factor: 15.369

4.  ABCB4 is frequently epigenetically silenced in human cancers and inhibits tumor growth.

Authors:  Steffen Kiehl; Stefanie C Herkt; Antje M Richter; Liesa Fuhrmann; Nefertiti El-Nikhely; Werner Seeger; Rajkumar Savai; Reinhard H Dammann
Journal:  Sci Rep       Date:  2014-11-04       Impact factor: 4.379

Review 5.  Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.

Authors:  Shin-ya Morita; Tomohiro Terada
Journal:  Biomed Res Int       Date:  2014-07-15       Impact factor: 3.411

6.  Cholesterol attenuates cytoprotective effects of phosphatidylcholine against bile salts.

Authors:  Yoshito Ikeda; Shin-Ya Morita; Tomohiro Terada
Journal:  Sci Rep       Date:  2017-03-22       Impact factor: 4.379

7.  Hepatobiliary anomalies associated with ABCB4/MDR3 deficiency in adults: a pictorial essay.

Authors:  Julie Benzimra; Sarah Derhy; Olivier Rosmorduc; Yves Menu; Raoul Poupon; Lionel Arrivé
Journal:  Insights Imaging       Date:  2013-04-17

8.  ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.

Authors:  Edward J Andress; Michael Nicolaou; Farrell McGeoghan; Kenneth J Linton
Journal:  Cell Mol Life Sci       Date:  2017-02-20       Impact factor: 9.261

9.  Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.

Authors:  Stephanie Barbara Schatz; Christoph Jüngst; Verena Keitel-Anselmo; Ralf Kubitz; Christina Becker; Patrick Gerner; Eva-Doreen Pfister; Imeke Goldschmidt; Norman Junge; Daniel Wenning; Stephan Gehring; Stefan Arens; Dirk Bretschneider; Dirk Grothues; Guido Engelmann; Frank Lammert; Ulrich Baumann
Journal:  Hepatol Commun       Date:  2018-03-22

10.  Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Authors:  Sara Akhavanfard; Roshan Padmanabhan; Lamis Yehia; Feixiong Cheng; Charis Eng
Journal:  Nat Commun       Date:  2020-05-05       Impact factor: 14.919
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