Literature DB >> 24002166

Clinical utility gene card for: progressive familial intrahepatic cholestasis type 3.

Emmanuel Gonzales1, Anne Spraul2, Emmanuel Jacquemin1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2013        PMID： 24002166      PMCID： PMC3953914          DOI： 10.1038/ejhg.2013.188

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


× No keyword cloud information.
  15 in total

1.  Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills.

Authors:  Nathalie Ganne-Carrié; Christiane Baussan; Véronique Grando; Joël Gaudelus; Danièle Cresteil; Emmanuel Jacquemin
Journal:  J Hepatol       Date:  2003-05       Impact factor: 25.083

2.  Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis.

Authors:  E Jacquemin; D Hermans; A Myara; D Habes; D Debray; M Hadchouel; E M Sokal; O Bernard
Journal:  Hepatology       Date:  1997-03       Impact factor: 17.425

3.  Transient neonatal cholestasis: origin and outcome.

Authors:  E Jacquemin; P Lykavieris; N Chaoui; M Hadchouel; O Bernard
Journal:  J Pediatr       Date:  1998-10       Impact factor: 4.406

4.  Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.

Authors:  Julien Gautherot; Anne-Marie Durand-Schneider; Danièle Delautier; Jean-Louis Delaunay; Alegna Rada; Julie Gabillet; Chantal Housset; Michèle Maurice; Tounsia Aït-Slimane
Journal:  J Biol Chem       Date:  2011-12-19       Impact factor: 5.157

5.  MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.

Authors:  O Rosmorduc; B Hermelin; R Poupon
Journal:  Gastroenterology       Date:  2001-05       Impact factor: 22.682

6.  The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.

Authors:  E Jacquemin; J M De Vree; D Cresteil; E M Sokal; E Sturm; M Dumont; G L Scheffer; M Paul; M Burdelski; P J Bosma; O Bernard; M Hadchouel; R P Elferink
Journal:  Gastroenterology       Date:  2001-05       Impact factor: 22.682

Review 7.  The spectrum of liver diseases related to ABCB4 gene mutations: pathophysiology and clinical aspects.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Semin Liver Dis       Date:  2010-04-26       Impact factor: 6.115

8.  Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis.

Authors:  J M de Vree; E Jacquemin; E Sturm; D Cresteil; P J Bosma; J Aten; J F Deleuze; M Desrochers; M Burdelski; O Bernard; R P Oude Elferink; M Hadchouel
Journal:  Proc Natl Acad Sci U S A       Date:  1998-01-06       Impact factor: 11.205

9.  Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).

Authors:  Dario Degiorgio; Carla Colombo; Manuela Seia; Luigi Porcaro; Lucy Costantino; Laura Zazzeron; Domenico Bordo; Domenico A Coviello
Journal:  Eur J Hum Genet       Date:  2007-08-29       Impact factor: 4.246

10.  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
View more
  3 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

Review 2.  Genetic diseases that predispose to early liver cirrhosis.

Authors:  Manuela Scorza; Ausilia Elce; Federica Zarrilli; Renato Liguori; Felice Amato; Giuseppe Castaldo
Journal:  Int J Hepatol       Date:  2014-07-14

3.  Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation.

Authors:  Mariam Goubran; Ayodeji Aderibigbe; Emmanuel Jacquemin; Catherine Guettier; Safwat Girgis; Vincent Bain; Andrew L Mason
Journal:  BMC Med Genet       Date:  2020-11-30       Impact factor: 2.103
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.