Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills

被引：31

作者：

Ganne-Carrié, N ^{[1
]}

Baussan, C

Grando, V

Gaudelus, J

Cresteil, D

Jacquemin, E

机构：

[1] Univ Paris 13, AP HP, Hop Jean Verdier, Serv Hepatogastroenterol, F-93140 Bondy, France

[2] Univ Paris 13, UPRES EA 3409, UFR, SMBH, Paris, France

[3] Univ Paris 11, Hop Bicetre, Serv Hepatol Pediat Biochim 1,INSERM, U347,AP HP, F-94275 Le Kremlin Bicetre, France

[4] Univ Paris 13, AP HP, Hop Jean Verdier, Serv Pediat, F-93140 Bondy, France

来源：

JOURNAL OF HEPATOLOGY | 2003年 / 38卷 / 05期

关键词：

D O I：

10.1016/S0168-8278(03)00049-7

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

引用

页码：693 / 694

页数：2

共 8 条

[1] 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

[2] 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

[3] 3-hydroxy-3-methylglutaryl-coenzyme A reductase inhibitors (statins) induce hepatic expression of the phospholipid translocase mdr2 in rats [J].

Hooiveld, GJEJ ;

Vos, TA ;

Scheffer, GL ;

Van Goor, H ;

Koning, H ;

Bloks, V ;

Loot, AE ;

Meijer, DKF ;

Jansen, PLM ;

Kuipers, F ;

Müller, M .

GASTROENTEROLOGY, 1999, 117 (03) :678-687

[4] Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy [J].

Jacquemin, E ;

Cresteil, D ;

Manouvrier, S ;

Boute, O ;

Hadchouel, M .

LANCET, 1999, 353 (9148) :210-211

[5] The wide spectrum of multidrug resistance 3 deficiency: From neonatal cholestasis to cirrhosis of adulthood [J].

Jacquemin, E ;

de Vree, JML ;

Cresteil, D ;

Sokal, EM ;

Sturm, E ;

Dumont, M ;

Scheffer, GL ;

Paul, M ;

Burdelski, M ;

Bosma, PJ ;

Bernard, O ;

Hadchouel, M ;

Elferink, RPJO .

GASTROENTEROLOGY, 2001, 120 (06) :1448-1458

[6] Mutations that alter RNA splicing of the human HPRT gene:: a review of the spectrum [J].

O'Neil, JP ;

Rogan, PK ;

Cariello, N ;

Nicklas, JA .

MUTATION RESEARCH-REVIEWS IN MUTATION RESEARCH, 1998, 411 (03) :179-214

[7] MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis [J].

Rosmorduc, O ;

Hermelin, B ;

Poupon, R .

GASTROENTEROLOGY, 2001, 120 (06) :1459-1467

[8] MDR3 P-glycoprotein, a phosphatidylcholine translocase, transports several cytotoxic drugs and directly interacts with drugs as judged by interference with nucleotide trapping [J].

Smith, AJ ;

van Helvoort, A ;

van Meer, G ;

Szabó, K ;

Welker, E ;

Szakács, G ;

Váradi, A ;

Sarkadi, B ;

Borst, P .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (31) :23530-23539

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