MDR3 deficiency: Progressive familial intrahepatic cholestasis (PFIC) due to MDR3 gene mutations.

被引：0
作者：
Jacquemin, E
de Vree, JML
Cresteil, D
Dumont, M
Bernard, O
Hadchouel, M
Elferink, RPJ
机构：
[1] Hop Bicetre, INSERM, U347, Paris, France
[2] Hop Beaujon, INSERM, U24, Paris, France
[3] Univ Amsterdam, Acad Med Ctr, Dept Gastroenterol, NL-1105 AZ Amsterdam, Netherlands
来源：
HEPATOLOGY | 1998年 / 28卷 / 04期
关键词：
D O I：
暂无
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
616
引用
收藏
页码：316A / 316A
页数：1
相关论文
共 50 条
[41]   ABCB4/MDR3 gene mutations in young patients with symptomatic cholelithiasis [J].
Gouveia, Catarina ;
de Lima, Margarida Flor ;
Pereira, Flavio ;
Rosa, Bruno ;
Duarte, Maria Antonia ;
Banhudo, Antonio ;
Cotter, Jose ;
Ferreira, Alexandre ;
Cravo, Marilia ;
Nunes, Joana .
JOURNAL OF HEPATOLOGY, 2020, 73 :S539-S539
[42]   Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy [J].
Schneider, Gudrun ;
Pans, Teresa C. ;
Kullak-Ublick, Gerd A. ;
Meier, Peter J. ;
Wienker, Thomas F. ;
Lang, Thomas ;
van de Vondel, Patricia ;
Sauerbruch, Tilman ;
Reichel, Christoph .
HEPATOLOGY, 2007, 45 (01) :150-158
[43]   MDR3 gene defect in adults with a peculiar variant of cholesterol [J].
Rosmorduc, O ;
Hermelin, B ;
Poupon, R .
JOURNAL OF HEPATOLOGY, 2001, 34 :188-188
[44]   Coadministration of AAV Expressing MDR3 (VTX-803) and ImmTOR Allows for Vector Re-Administration to Treat Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3) in Juvenile Abcb4-/- Mice [J].
Weber, Nicholas D. ;
Salas-Gomez, David ;
Odriozola, Leticia ;
Ros-Ganan, Irene ;
Hommel, Mirja ;
Kishimoto, Takashi Kei ;
Combal, Jean-Philippe ;
Gonzalez-Aseguinolaza, Gloria .
MOLECULAR THERAPY, 2021, 29 (04) :14-15
[45]   Rapid correction of Mdr2 deficiency by transplantation of MDR3 transgenic hepatocytes. [J].
de Vree, JML ;
Ottenhoff, R ;
Smith, AJ ;
Aten, J ;
Groen, AK ;
Elferink, RPJO .
HEPATOLOGY, 1998, 28 (04) :387A-387A
[46]   Analysis of mutations of MDR3 exons 9 and 23 in infants with parenteral nutrition-associated cholestasis [J].
Yang, Xiu-Fang ;
Liu, Guo-Sheng ;
Li, Min-Xu .
EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2015, 10 (06) :2361-2365
[47]   Re-Administration of AAV expressing MDR3 (VTX-803) treats progressive familial intrahepatic cholestasis type 3 (PFIC3) in juvenile Abcb4-/- mice when co-administered with ImmTOR [J].
Weber, N. D. ;
Salas, D. ;
Odriozola, L. ;
Ros-Ganan, I. ;
Hommel, M. ;
Kishimoto, T. K. ;
Combal, J. P. ;
Gonzalez-Aseguinolaza, G. .
HUMAN GENE THERAPY, 2021, 32 (19-20) :A104-A104
[48]   Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy [J].
Floreani, A. ;
Carderi, I. ;
Paternoster, D. ;
Soardo, G. ;
Azzaroli, F. ;
Esposito, W. ;
Montagnani, M. ;
Marchesoni, D. ;
Variola, A. ;
Rizzotto, E. Rosa ;
Braghin, C. ;
Mazzella, G. .
DIGESTIVE AND LIVER DISEASE, 2008, 40 (05) :366-370
[49]   MDR3 mutations: A glimpse into pandora's box and the future of canalicular pathophysiology [J].
Ortiz, D ;
Arias, IM .
GASTROENTEROLOGY, 2001, 120 (06) :1549-1552
[50]   Functional characterization of genetic variations in the MDR3 promoter [J].
Jang, Geun Hye ;
Kim, Tae Hee ;
Choe, Yunseo ;
Ham, Ahrong ;
Choi, Ji Ha .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 2013, 430 (04) :1312-1318
12345