ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy -: art. no. e70

被引:91
作者
Müllenbach, R
Linton, KJ
Wiltshire, S
Weerasekera, N
Chambers, J
Elias, E
Higgins, CF
Johnston, DG
McCarthy, MI
Williamson, C
机构
[1] Univ London Imperial Coll Sci Technol & Med, Inst Reprod & Dev Biol, Fac Med, London W12 0NN, England
[2] Univ London Imperial Coll Sci Technol & Med, MRC, Ctr Clin Sci, London W12 0NN, England
[3] Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England
[4] Univ London Imperial Coll Sci Technol & Med, Genet & Genom Res Inst, Fac Med, London W12 0NN, England
[5] Queen Elizabeth Hosp, Dept Gastroenterol, Birmingham B15 2TH, W Midlands, England
关键词
D O I
10.1136/jmg.40.5.e70
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页数:5
相关论文
共 31 条
[1]  
Abedin P, 1999, Ethn Health, V4, P35
[2]   The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes [J].
Altshuler, D ;
Hirschhorn, JN ;
Klannemark, M ;
Lindgren, CM ;
Vohl, MC ;
Nemesh, J ;
Lane, CR ;
Schaffner, SF ;
Bolk, S ;
Brewer, C ;
Tuomi, T ;
Gaudet, D ;
Hudson, TJ ;
Daly, M ;
Groop, L ;
Lander, ES .
NATURE GENETICS, 2000, 26 (01) :76-80
[3]   SERUM CONJUGATED BILE-ACID PROFILE DURING INH INTRAHEPATIC CHOLESTASIS OF PREGNANCY [J].
BACQ, Y ;
MYARA, A ;
BRECHOT, MC ;
HAMON, C ;
STUDER, E ;
TRIVIN, F ;
METMAN, EH .
JOURNAL OF HEPATOLOGY, 1995, 22 (01) :66-70
[4]   Cysteine-scanning mutagenesis provides no evidence for the extracellular accessibility of the nucleotide-binding domains of the multidrug resistance transporter P-glycoprotein [J].
Blott, EJ ;
Higgins, CF ;
Linton, KJ .
EMBO JOURNAL, 1999, 18 (23) :6800-6808
[5]   A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission [J].
Clayton, D .
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) :1170-1177
[6]   Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis [J].
De Vree, JML ;
Jacquemin, E ;
Sturm, E ;
Cresteil, D ;
Bosma, PJ ;
Aten, J ;
Deleuze, JF ;
Desrochers, M ;
Burdelski, M ;
Bernard, O ;
Elferink, RPJO ;
Hadchouel, M .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1998, 95 (01) :282-287
[7]   The orphan nuclear receptor, shp, mediates bile acid-induced inhibition of the rat bile acid transporter, ntcp [J].
Denson, LA ;
Sturm, E ;
Echevarria, W ;
Zimmerman, TL ;
Makishima, M ;
Mangelsdorf, DJ ;
Karpen, SJ .
GASTROENTEROLOGY, 2001, 121 (01) :140-147
[8]   Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy:: evidence for a defect in protein trafficking [J].
Dixon, PH ;
Weerasekera, N ;
Linton, KJ ;
Donaldson, O ;
Chambers, J ;
Egginton, E ;
Weaver, J ;
Nelson-Piercy, C ;
de Swiet, M ;
Warnes, G ;
Elias, E ;
Higgins, CF ;
Johnston, DG ;
McCarthy, MI ;
Williamson, C .
HUMAN MOLECULAR GENETICS, 2000, 9 (08) :1209-1217
[9]   Risk of obstetric cholestasis in sisters of index patients [J].
Eloranta, ML ;
Heinonen, S ;
Mononen, T ;
Saarikoski, S .
CLINICAL GENETICS, 2001, 60 (01) :42-45
[10]   FETAL-OUTCOME IN OBSTETRIC CHOLESTASIS [J].
FISK, NM ;
STOREY, GNB .
BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY, 1988, 95 (11) :1137-1143