Literature DB >> 12624161

A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy.

C Gendrot1, Y Bacq, M-C Brechot, J Lansac, C Andres.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12624161      PMCID： PMC1735385          DOI： 10.1136/jmg.40.3.e32

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  12 in total

Review 1.  Function and pathophysiological importance of ABCB4 (MDR3 P-glycoprotein).

Authors:  Ronald P J Oude Elferink; Coen C Paulusma
Journal:  Pflugers Arch       Date:  2006-04-19       Impact factor: 3.657

Review 2.  Intrahepatic cholestasis of pregnancy.

Authors:  Victoria Geenes; Catherine Williamson
Journal:  World J Gastroenterol       Date:  2009-05-07       Impact factor: 5.742

3.  Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.

Authors:  H E Wasmuth; A Glantz; H Keppeler; E Simon; C Bartz; W Rath; L-A Mattsson; H-U Marschall; F Lammert
Journal:  Gut       Date:  2006-08-04       Impact factor: 23.059

4.  First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.

Authors:  Eric Pasmant; Philippe Goussard; Laetitia Baranes; Ingrid Laurendeau; Samuel Quentin; Philippe Ponsot; Yann Consigny; Olivier Farges; Bertrand Condat; Dominique Vidaud; Michel Vidaud; Jian-Min Chen; Béatrice Parfait
Journal:  Eur J Hum Genet       Date:  2011-10-12       Impact factor: 4.246

Review 5.  The molecular genetics of intrahepatic cholestasis of pregnancy.

Authors:  P H Dixon; C Williamson
Journal:  Obstet Med       Date:  2008-12-01

6.  ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.

Authors:  R Müllenbach; A Bennett; N Tetlow; N Patel; G Hamilton; F Cheng; J Chambers; R Howard; S D Taylor-Robinson; C Williamson
Journal:  Gut       Date:  2005-06       Impact factor: 23.059

Review 7.  Liver diseases in pregnancy: diseases unique to pregnancy.

Authors:  Khulood T Ahmed; Ashraf A Almashhrawi; Rubayat N Rahman; Ghassan M Hammoud; Jamal A Ibdah
Journal:  World J Gastroenterol       Date:  2013-11-21       Impact factor: 5.742

8.  Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump.

Authors:  Yvonne Meier; Tina Zodan; Carmen Lang; Roland Zimmermann; Gerd A Kullak-Ublick; Peter J Meier; Bruno Stieger; Christiane Pauli-Magnus
Journal:  World J Gastroenterol       Date:  2008-01-07       Impact factor: 5.742

9.  ABCB4 mutations underlie hormonal cholestasis but not pediatric idiopathic gallstones.

Authors:  Milan Jirsa; Jiří Bronský; Lenka Dvořáková; Jan Šperl; Vít Šmajstrla; Jiří Horák; Jiří Nevoral; Martin Hřebíček
Journal:  World J Gastroenterol       Date:  2014-05-21       Impact factor: 5.742

Review 10.  Progressive familial intrahepatic cholestasis.

Authors:  Anne Davit-Spraul; Emmanuel Gonzales; Christiane Baussan; Emmanuel Jacquemin
Journal:  Orphanet J Rare Dis       Date:  2009-01-08       Impact factor: 4.123
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.