Literature DB >> 26680260

MDR3 mutation analysis: A step closer to precision medicine.

Jorge A Bezerra1,2.   

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Year:  2016        PMID： 26680260      PMCID： PMC4840076          DOI： 10.1002/hep.28408

Source DB:  PubMed          Journal:  Hepatology        ISSN： 0270-9139            Impact factor:   17.425


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  9 in total

1.  Intrahepatic cholestasis: order out of chaos.

Authors:  J A Bezerra; W F Balistreri
Journal:  Gastroenterology       Date:  1999-12       Impact factor: 22.682

2.  A functional classification of ABCB4 variations causing progressive familial intrahepatic cholestasis type 3.

Authors:  Jean-Louis Delaunay; Anne-Marie Durand-Schneider; Claire Dossier; Thomas Falguières; Julien Gautherot; Anne Davit-Spraul; Tounsia Aït-Slimane; Chantal Housset; Emmanuel Jacquemin; Michèle Maurice
Journal:  Hepatology       Date:  2015-12-23       Impact factor: 17.425

Review 3.  Whatever happened to "neonatal hepatitis"?

Authors:  William F Balistreri; Jorge A Bezerra
Journal:  Clin Liver Dis       Date:  2006-02       Impact factor: 6.126

4.  Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II.

Authors:  Lin Wang; Huiping Dong; Carol J Soroka; Ning Wei; James L Boyer; Mark Hochstrasser
Journal:  Hepatology       Date:  2008-11       Impact factor: 17.425

5.  Mutations in TJP2 cause progressive cholestatic liver disease.

Authors:  Melissa Sambrotta; Sandra Strautnieks; Efterpi Papouli; Peter Rushton; Barnaby E Clark; David A Parry; Clare V Logan; Lucy J Newbury; Binita M Kamath; Simon Ling; Tassos Grammatikopoulos; Bart E Wagner; John C Magee; Ronald J Sokol; Giorgina Mieli-Vergani; Joshua D Smith; Colin A Johnson; Patricia McClean; Michael A Simpson; A S Knisely; Laura N Bull; Richard J Thompson
Journal:  Nat Genet       Date:  2014-03-09       Impact factor: 38.330

6.  NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

Authors:  Ryan McDaniell; Daniel M Warthen; Pedro A Sanchez-Lara; Athma Pai; Ian D Krantz; David A Piccoli; Nancy B Spinner
Journal:  Am J Hum Genet       Date:  2006-05-10       Impact factor: 11.025

7.  ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults.

Authors:  Marianne Ziol; Véronique Barbu; Olivier Rosmorduc; Annonciade Frassati-Biaggi; Nathalie Barget; Brigitte Hermelin; Georges L Scheffer; Selma Bennouna; Jean-Claude Trinchet; Michel Beaugrand; Nathalie Ganne-Carrié
Journal:  Gastroenterology       Date:  2008-03-26       Impact factor: 22.682

8.  Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.

Authors:  Jane A Byrne; Sandra S Strautnieks; Gudrun Ihrke; Franco Pagani; A S Knisely; Kenneth J Linton; Giorgina Mieli-Vergani; Richard J Thompson
Journal:  Hepatology       Date:  2009-02       Impact factor: 17.425

9.  Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity.

Authors:  Raquel Gordo-Gilart; Sara Andueza; Loreto Hierro; Pilar Martínez-Fernández; Daniel D'Agostino; Paloma Jara; Luis Alvarez
Journal:  Gut       Date:  2014-03-04       Impact factor: 23.059
  9 in total

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