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Volumn 52, Issue 2, 2010, Pages 258-271

Liver disease associated with canalicular transport defects: Current and future therapies

Author keywords

Canalicular transport; Hereditary cholestasis; PFIC; Therapy

Indexed keywords

4 PHENYLBUTYRIC ACID; ABC TRANSPORTER; AMINOGLYCOSIDE; ATALUREN; BILE SALT; BILIRUBIN; CELL NUCLEUS RECEPTOR; CHAPERONE; CHOLESTEROL; COLESTYRAMINE; CONSTITUTIVE ANDROSTANE RECEPTOR; FARNESOID X RECEPTOR; FIBRIC ACID DERIVATIVE; GAMMA GLUTAMYLTRANSFERASE; HEAT SHOCK PROTEIN; MULTIDRUG RESISTANCE PROTEIN 3; ORGANIC ANION TRANSPORTER; PHENOBARBITAL; PHOSPHATIDYLCHOLINE; PREGNANE X RECEPTOR; PROTEIN; PROTEIN BSEP; PROTEIN FIC1; PROTEIN FIC2; RIFAMPICIN; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

EID: 75349107079     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jhep.2009.11.012     Document Type: Review
Times cited : (153)

References (211)
  • 1
    • 57049124822 scopus 로고    scopus 로고
    • Structural insights into ABC transporter mechanism
    • Oldham M.L., Davidson A.L., and Chen J. Structural insights into ABC transporter mechanism. Curr Opin Struct Biol 18 (2008) 726-733
    • (2008) Curr Opin Struct Biol , vol.18 , pp. 726-733
    • Oldham, M.L.1    Davidson, A.L.2    Chen, J.3
  • 2
    • 0036074018 scopus 로고    scopus 로고
    • Mammalian ABC transporters in health and disease
    • Borst P., and Elferink R.O. Mammalian ABC transporters in health and disease. Annu Rev Biochem 71 (2002) 537-592
    • (2002) Annu Rev Biochem , vol.71 , pp. 537-592
    • Borst, P.1    Elferink, R.O.2
  • 4
    • 38649113883 scopus 로고    scopus 로고
    • ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity
    • Paulusma C.C., Folmer D.E., Ho-Mok K.S., de Waart D.R., Hilarius P.M., Verhoeven A.J., et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology 47 (2008) 268-278
    • (2008) Hepatology , vol.47 , pp. 268-278
    • Paulusma, C.C.1    Folmer, D.E.2    Ho-Mok, K.S.3    de Waart, D.R.4    Hilarius, P.M.5    Verhoeven, A.J.6
  • 5
    • 0037345029 scopus 로고    scopus 로고
    • Drs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis
    • Pomorski T., Lombardi R., Riezman H., Devaux P.F., van M.G., and Holthuis J.C. Drs2p-related P-type ATPases Dnf1p and Dnf2p are required for phospholipid translocation across the yeast plasma membrane and serve a role in endocytosis. Mol Biol Cell 14 (2003) 1240-1254
    • (2003) Mol Biol Cell , vol.14 , pp. 1240-1254
    • Pomorski, T.1    Lombardi, R.2    Riezman, H.3    Devaux, P.F.4    van, M.G.5    Holthuis, J.C.6
  • 6
    • 0034812920 scopus 로고    scopus 로고
    • Familial intrahepatic cholestasis 1: studies of localization and function
    • Ujhazy P., Ortiz D., Misra S., Li S., Moseley J., Jones H., et al. Familial intrahepatic cholestasis 1: studies of localization and function. Hepatology 34 (2001) 768-775
    • (2001) Hepatology , vol.34 , pp. 768-775
    • Ujhazy, P.1    Ortiz, D.2    Misra, S.3    Li, S.4    Moseley, J.5    Jones, H.6
  • 7
    • 60449097716 scopus 로고    scopus 로고
    • ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained
    • Cai S.Y., Gautam S., Nguyen T., Soroka C.J., Rahner C., and Boyer J.L. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology 136 (2009) 1060-1069
    • (2009) Gastroenterology , vol.136 , pp. 1060-1069
    • Cai, S.Y.1    Gautam, S.2    Nguyen, T.3    Soroka, C.J.4    Rahner, C.5    Boyer, J.L.6
  • 8
    • 0033008056 scopus 로고    scopus 로고
    • Enrichment of canalicular membrane with cholesterol and sphingomyelin prevents bile salt-induced hepatic damage
    • Amigo L., Mendoza H., Zanlungo S., Miquel J.F., Rigotti A., Gonzalez S., et al. Enrichment of canalicular membrane with cholesterol and sphingomyelin prevents bile salt-induced hepatic damage. J Lipid Res 40 (1999) 533-542
    • (1999) J Lipid Res , vol.40 , pp. 533-542
    • Amigo, L.1    Mendoza, H.2    Zanlungo, S.3    Miquel, J.F.4    Rigotti, A.5    Gonzalez, S.6
  • 9
    • 33745906532 scopus 로고    scopus 로고
    • Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport
    • Paulusma C.C., Groen A., Kunne C., Ho-Mok K.S., Spijkerboer A.L., Rudi de W.D., et al. Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport. Hepatology 44 (2006) 195-204
    • (2006) Hepatology , vol.44 , pp. 195-204
    • Paulusma, C.C.1    Groen, A.2    Kunne, C.3    Ho-Mok, K.S.4    Spijkerboer, A.L.5    Rudi de, W.D.6
  • 10
    • 65649087129 scopus 로고    scopus 로고
    • Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content
    • Paulusma C.C., Dewaart D.R., Kunne C., Mok K.S., and Oude Elferink R.P. Activity of the bile salt export pump (ABCB11) is critically dependent on canalicular membrane cholesterol content. J Biol Chem (2009)
    • (2009) J Biol Chem
    • Paulusma, C.C.1    Dewaart, D.R.2    Kunne, C.3    Mok, K.S.4    Oude Elferink, R.P.5
  • 11
    • 66149145265 scopus 로고    scopus 로고
    • ABC-transporters are localized in caveolin-1-positive and reggie-1-negative and reggie-2-negative microdomains of the canalicular membrane in rat hepatocytes
    • Ismair M.G., Hausler S., Stuermer C.A., Guyot C., Meier P.J., Roth J., et al. ABC-transporters are localized in caveolin-1-positive and reggie-1-negative and reggie-2-negative microdomains of the canalicular membrane in rat hepatocytes. Hepatology 49 (2009) 1673-1682
    • (2009) Hepatology , vol.49 , pp. 1673-1682
    • Ismair, M.G.1    Hausler, S.2    Stuermer, C.A.3    Guyot, C.4    Meier, P.J.5    Roth, J.6
  • 12
    • 12644268207 scopus 로고    scopus 로고
    • Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity
    • Bull L.N., Carlton V.E., Stricker N.L., Baharloo S., DeYoung J.A., Freimer N.B., et al. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome): evidence for heterogeneity. Hepatology 26 (1997) 155-164
    • (1997) Hepatology , vol.26 , pp. 155-164
    • Bull, L.N.1    Carlton, V.E.2    Stricker, N.L.3    Baharloo, S.4    DeYoung, J.A.5    Freimer, N.B.6
  • 17
    • 0014442684 scopus 로고
    • Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred
    • Clayton R.J., Iber F.L., Ruebner B.H., and McKusick V.A. Byler disease. Fatal familial intrahepatic cholestasis in an Amish kindred. Am J Dis Child 117 (1969) 112-124
    • (1969) Am J Dis Child , vol.117 , pp. 112-124
    • Clayton, R.J.1    Iber, F.L.2    Ruebner, B.H.3    McKusick, V.A.4
  • 18
    • 0022969470 scopus 로고
    • Fatal familial cholestatic syndrome in Greenland Eskimo children
    • Nielsen I.M., Ornvold K., Jacobsen B.B., and Ranek L. Fatal familial cholestatic syndrome in Greenland Eskimo children. Acta Paediatr Scand 75 (1986) 1010-1016
    • (1986) Acta Paediatr Scand , vol.75 , pp. 1010-1016
    • Nielsen, I.M.1    Ornvold, K.2    Jacobsen, B.B.3    Ranek, L.4
  • 19
    • 0024433711 scopus 로고
    • Benign recurrent intrahepatic cholestasis. A report of 26 cases
    • Brenard R., Geubel A.P., and Benhamou J.P. Benign recurrent intrahepatic cholestasis. A report of 26 cases. J Clin Gastroenterol 11 (1989) 546-551
    • (1989) J Clin Gastroenterol , vol.11 , pp. 546-551
    • Brenard, R.1    Geubel, A.P.2    Benhamou, J.P.3
  • 21
    • 49749223133 scopus 로고
    • Benign recurrent intrahepatic "obstructive" jaundice
    • Summerskill W.H., and Walshe J.M. Benign recurrent intrahepatic "obstructive" jaundice. Lancet 2 (1959) 686-690
    • (1959) Lancet , vol.2 , pp. 686-690
    • Summerskill, W.H.1    Walshe, J.M.2
  • 22
    • 0033027487 scopus 로고    scopus 로고
    • Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity
    • Tygstrup N., Steig B.A., Juijn J.A., Bull L.N., and Houwen R.H. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology 29 (1999) 506-508
    • (1999) Hepatology , vol.29 , pp. 506-508
    • Tygstrup, N.1    Steig, B.A.2    Juijn, J.A.3    Bull, L.N.4    Houwen, R.H.5
  • 23
    • 0035200027 scopus 로고    scopus 로고
    • FIC1 disease: a spectrum of intrahepatic cholestatic disorders
    • van Mil S.W., Klomp L.W., Bull L.N., and Houwen R.H. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 21 (2001) 535-544
    • (2001) Semin Liver Dis , vol.21 , pp. 535-544
    • van Mil, S.W.1    Klomp, L.W.2    Bull, L.N.3    Houwen, R.H.4
  • 24
    • 0036186424 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum
    • van Ooteghem N.A., Klomp L.W., van Berge-Henegouwen G.P., and Houwen R.H. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol 36 (2002) 439-443
    • (2002) J Hepatol , vol.36 , pp. 439-443
    • van Ooteghem, N.A.1    Klomp, L.W.2    van Berge-Henegouwen, G.P.3    Houwen, R.H.4
  • 25
    • 0034005389 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis: a personal perspective
    • Knisely A.S. Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr Dev Pathol 3 (2000) 113-125
    • (2000) Pediatr Dev Pathol , vol.3 , pp. 113-125
    • Knisely, A.S.1
  • 26
    • 0034798633 scopus 로고    scopus 로고
    • FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte
    • Eppens E.F., van Mil S.W., De Vree J.M., Mok K.S., Juijn J.A., Oude Elferink R.P., et al. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol 35 (2001) 436-443
    • (2001) J Hepatol , vol.35 , pp. 436-443
    • Eppens, E.F.1    van Mil, S.W.2    De Vree, J.M.3    Mok, K.S.4    Juijn, J.A.5    Oude Elferink, R.P.6
  • 27
    • 9244263543 scopus 로고    scopus 로고
    • Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice
    • van Mil S.W., van Oort M.M., van dB I., Berger R., Houwen R.H., and Klomp L.W. Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice. Pediatr Res 56 (2004) 981-987
    • (2004) Pediatr Res , vol.56 , pp. 981-987
    • van Mil, S.W.1    van Oort, M.M.2    van dB, I.3    Berger, R.4    Houwen, R.H.5    Klomp, L.W.6
  • 28
    • 0038148600 scopus 로고    scopus 로고
    • FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body
    • Harris M.J., and Arias I.M. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Biochim Biophys Acta 1633 (2003) 127-131
    • (2003) Biochim Biophys Acta , vol.1633 , pp. 127-131
    • Harris, M.J.1    Arias, I.M.2
  • 30
    • 0036161690 scopus 로고    scopus 로고
    • FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels
    • Chen H.L., Chang P.S., Hsu H.C., Ni Y.H., Hsu H.Y., Lee J.H., et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr 140 (2002) 119-124
    • (2002) J Pediatr , vol.140 , pp. 119-124
    • Chen, H.L.1    Chang, P.S.2    Hsu, H.C.3    Ni, Y.H.4    Hsu, H.Y.5    Lee, J.H.6
  • 31
    • 0042830239 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation
    • Lykavieris P., van M.S., Cresteil D., Fabre M., Hadchouel M., Klomp L., et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 39 (2003) 447-452
    • (2003) J Hepatol , vol.39 , pp. 447-452
    • Lykavieris, P.1    van, M.S.2    Cresteil, D.3    Fabre, M.4    Hadchouel, M.5    Klomp, L.6
  • 33
    • 0032612335 scopus 로고    scopus 로고
    • Sensorineural hearing loss associated with Byler disease
    • Oshima T., Ikeda K., and Takasaka T. Sensorineural hearing loss associated with Byler disease. Tohoku J Exp Med 187 (1999) 83-88
    • (1999) Tohoku J Exp Med , vol.187 , pp. 83-88
    • Oshima, T.1    Ikeda, K.2    Takasaka, T.3
  • 34
    • 21144447029 scopus 로고    scopus 로고
    • ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy
    • Mullenbach R., Bennett A., Tetlow N., Patel N., Hamilton G., Cheng F., et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut 54 (2005) 829-834
    • (2005) Gut , vol.54 , pp. 829-834
    • Mullenbach, R.1    Bennett, A.2    Tetlow, N.3    Patel, N.4    Hamilton, G.5    Cheng, F.6
  • 36
    • 17344366172 scopus 로고    scopus 로고
    • A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
    • Strautnieks S.S., Bull L.N., Knisely A.S., Kocoshis S.A., Dahl N., Arnell H., et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 20 (1998) 233-238
    • (1998) Nat Genet , vol.20 , pp. 233-238
    • Strautnieks, S.S.1    Bull, L.N.2    Knisely, A.S.3    Kocoshis, S.A.4    Dahl, N.5    Arnell, H.6
  • 38
    • 0032711405 scopus 로고    scopus 로고
    • Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis
    • Jansen P.L., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E.M., Hooiveld G.J., et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology 117 (1999) 1370-1379
    • (1999) Gastroenterology , vol.117 , pp. 1370-1379
    • Jansen, P.L.1    Strautnieks, S.S.2    Jacquemin, E.3    Hadchouel, M.4    Sokal, E.M.5    Hooiveld, G.J.6
  • 39
    • 28844489919 scopus 로고    scopus 로고
    • A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
    • Lam C.W., Cheung K.M., Tsui M.S., Yan M.S., Lee C.Y., and Tong S.F. A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2. J Hepatol 44 (2006) 240-242
    • (2006) J Hepatol , vol.44 , pp. 240-242
    • Lam, C.W.1    Cheung, K.M.2    Tsui, M.S.3    Yan, M.S.4    Lee, C.Y.5    Tong, S.F.6
  • 40
    • 37349126955 scopus 로고    scopus 로고
    • Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2
    • Takahashi A., Hasegawa M., Sumazaki R., Suzuki M., Toki F., Suehiro T., et al. Gradual improvement of liver function after administration of ursodeoxycholic acid in an infant with a novel ABCB11 gene mutation with phenotypic continuum between BRIC2 and PFIC2. Eur J Gastroenterol Hepatol 19 (2007) 942-946
    • (2007) Eur J Gastroenterol Hepatol , vol.19 , pp. 942-946
    • Takahashi, A.1    Hasegawa, M.2    Sumazaki, R.3    Suzuki, M.4    Toki, F.5    Suehiro, T.6
  • 42
    • 0035203879 scopus 로고    scopus 로고
    • BSEP: function and role in progressive familial intrahepatic cholestasis
    • Thompson R., and Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 21 (2001) 545-550
    • (2001) Semin Liver Dis , vol.21 , pp. 545-550
    • Thompson, R.1    Strautnieks, S.2
  • 43
    • 0032540277 scopus 로고    scopus 로고
    • The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver
    • Gerloff T., Stieger B., Hagenbuch B., Madon J., Landmann L., Roth J., et al. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem 273 (1998) 10046-10050
    • (1998) J Biol Chem , vol.273 , pp. 10046-10050
    • Gerloff, T.1    Stieger, B.2    Hagenbuch, B.3    Madon, J.4    Landmann, L.5    Roth, J.6
  • 44
    • 17844403220 scopus 로고    scopus 로고
    • Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis
    • Keitel V., Burdelski M., Warskulat U., Kuhlkamp T., Keppler D., Haussinger D., et al. Expression and localization of hepatobiliary transport proteins in progressive familial intrahepatic cholestasis. Hepatology 41 (2005) 1160-1172
    • (2005) Hepatology , vol.41 , pp. 1160-1172
    • Keitel, V.1    Burdelski, M.2    Warskulat, U.3    Kuhlkamp, T.4    Keppler, D.5    Haussinger, D.6
  • 45
    • 33747032310 scopus 로고    scopus 로고
    • Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency
    • Knisely A.S., Strautnieks S.S., Meier Y., Stieger B., Byrne J.A., Portmann B.C., et al. Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency. Hepatology 44 (2006) 478-486
    • (2006) Hepatology , vol.44 , pp. 478-486
    • Knisely, A.S.1    Strautnieks, S.S.2    Meier, Y.3    Stieger, B.4    Byrne, J.A.5    Portmann, B.C.6
  • 46
    • 34247177532 scopus 로고    scopus 로고
    • Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma
    • Scheimann A.O., Strautnieks S.S., Knisely A.S., Byrne J.A., Thompson R.J., and Finegold M.J. Mutations in bile salt export pump (ABCB11) in two children with progressive familial intrahepatic cholestasis and cholangiocarcinoma. J Pediatr 150 (2007) 556-559
    • (2007) J Pediatr , vol.150 , pp. 556-559
    • Scheimann, A.O.1    Strautnieks, S.S.2    Knisely, A.S.3    Byrne, J.A.4    Thompson, R.J.5    Finegold, M.J.6
  • 47
    • 33846589652 scopus 로고    scopus 로고
    • Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury
    • Lang C., Meier Y., Stieger B., Beuers U., Lang T., Kerb R., et al. Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury. Pharmacogenet Genomics 17 (2007) 47-60
    • (2007) Pharmacogenet Genomics , vol.17 , pp. 47-60
    • Lang, C.1    Meier, Y.2    Stieger, B.3    Beuers, U.4    Lang, T.5    Kerb, R.6
  • 48
    • 64149086618 scopus 로고    scopus 로고
    • Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy
    • Dixon P.H., van Mil S.W., Chambers J., Strautnieks S., Thompson R.J., Lammert F., et al. Contribution of variant alleles of ABCB11 to susceptibility to intrahepatic cholestasis of pregnancy. Gut 58 (2009) 537-544
    • (2009) Gut , vol.58 , pp. 537-544
    • Dixon, P.H.1    van Mil, S.W.2    Chambers, J.3    Strautnieks, S.4    Thompson, R.J.5    Lammert, F.6
  • 49
    • 39849096025 scopus 로고    scopus 로고
    • Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump
    • Meier Y., Zodan T., Lang C., Zimmermann R., Kullak-Ublick G.A., Meier P.J., et al. Increased susceptibility for intrahepatic cholestasis of pregnancy and contraceptive-induced cholestasis in carriers of the 1331T>C polymorphism in the bile salt export pump. World J Gastroenterol 14 (2008) 38-45
    • (2008) World J Gastroenterol , vol.14 , pp. 38-45
    • Meier, Y.1    Zodan, T.2    Lang, C.3    Zimmermann, R.4    Kullak-Ublick, G.A.5    Meier, P.J.6
  • 50
    • 10744220281 scopus 로고    scopus 로고
    • Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy
    • Pauli-Magnus C., Lang T., Meier Y., Zodan-Marin T., Jung D., Breymann C., et al. Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy. Pharmacogenetics 14 (2004) 91-102
    • (2004) Pharmacogenetics , vol.14 , pp. 91-102
    • Pauli-Magnus, C.1    Lang, T.2    Meier, Y.3    Zodan-Marin, T.4    Jung, D.5    Breymann, C.6
  • 51
    • 30344460996 scopus 로고    scopus 로고
    • Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis
    • Hermeziu B., Sanlaville D., Girard M., Leonard C., Lyonnet S., and Jacquemin E. Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr 42 (2006) 114-116
    • (2006) J Pediatr Gastroenterol Nutr , vol.42 , pp. 114-116
    • Hermeziu, B.1    Sanlaville, D.2    Girard, M.3    Leonard, C.4    Lyonnet, S.5    Jacquemin, E.6
  • 53
    • 0027969948 scopus 로고
    • The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice
    • Smith A.J., Timmermans-Hereijgers J.L., Roelofsen B., Wirtz K.W., van Blitterswijk W.J., Smit J.J., et al. The human MDR3 P-glycoprotein promotes translocation of phosphatidylcholine through the plasma membrane of fibroblasts from transgenic mice. FEBS Lett 354 (1994) 263-266
    • (1994) FEBS Lett , vol.354 , pp. 263-266
    • Smith, A.J.1    Timmermans-Hereijgers, J.L.2    Roelofsen, B.3    Wirtz, K.W.4    van Blitterswijk, W.J.5    Smit, J.J.6
  • 54
    • 0007544439 scopus 로고    scopus 로고
    • MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine
    • van Helvoort A., Smith A.J., Sprong H., Fritzsche I., Schinkel A.H., Borst P., et al. MDR1 P-glycoprotein is a lipid translocase of broad specificity, while MDR3 P-glycoprotein specifically translocates phosphatidylcholine. Cell 87 (1996) 507-517
    • (1996) Cell , vol.87 , pp. 507-517
    • van Helvoort, A.1    Smith, A.J.2    Sprong, H.3    Fritzsche, I.4    Schinkel, A.H.5    Borst, P.6
  • 56
    • 36349000557 scopus 로고    scopus 로고
    • Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3)
    • Degiorgio D., Colombo C., Seia M., Porcaro L., Costantino L., Zazzeron L., et al. Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3). Eur J Hum Genet 15 (2007) 1230-1238
    • (2007) Eur J Hum Genet , vol.15 , pp. 1230-1238
    • Degiorgio, D.1    Colombo, C.2    Seia, M.3    Porcaro, L.4    Costantino, L.5    Zazzeron, L.6
  • 57
    • 54449098345 scopus 로고    scopus 로고
    • A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults
    • Gotthardt D., Runz H., Keitel V., Fischer C., Flechtenmacher C., Wirtenberger M., et al. A mutation in the canalicular phospholipid transporter gene, ABCB4, is associated with cholestasis, ductopenia, and cirrhosis in adults. Hepatology 48 (2008) 1157-1166
    • (2008) Hepatology , vol.48 , pp. 1157-1166
    • Gotthardt, D.1    Runz, H.2    Keitel, V.3    Fischer, C.4    Flechtenmacher, C.5    Wirtenberger, M.6
  • 58
    • 46049094386 scopus 로고    scopus 로고
    • ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults
    • Ziol M., Barbu V., Rosmorduc O., Frassati-Biaggi A., Barget N., Hermelin B., et al. ABCB4 heterozygous gene mutations associated with fibrosing cholestatic liver disease in adults. Gastroenterology 135 (2008) 131-141
    • (2008) Gastroenterology , vol.135 , pp. 131-141
    • Ziol, M.1    Barbu, V.2    Rosmorduc, O.3    Frassati-Biaggi, A.4    Barget, N.5    Hermelin, B.6
  • 59
    • 17644443114 scopus 로고    scopus 로고
    • Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking
    • Dixon P.H., Weerasekera N., Linton K.J., Donaldson O., Chambers J., Egginton E., et al. Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking. Hum Mol Genet 9 (2000) 1209-1217
    • (2000) Hum Mol Genet , vol.9 , pp. 1209-1217
    • Dixon, P.H.1    Weerasekera, N.2    Linton, K.J.3    Donaldson, O.4    Chambers, J.5    Egginton, E.6
  • 60
    • 33846463378 scopus 로고    scopus 로고
    • Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy
    • Schneider G., Paus T.C., Kullak-Ublick G.A., Meier P.J., Wienker T.F., Lang T., et al. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology 45 (2007) 150-158
    • (2007) Hepatology , vol.45 , pp. 150-158
    • Schneider, G.1    Paus, T.C.2    Kullak-Ublick, G.A.3    Meier, P.J.4    Wienker, T.F.5    Lang, T.6
  • 62
    • 41849111312 scopus 로고    scopus 로고
    • Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy
    • Floreani A., Carderi I., Paternoster D., Soardo G., Azzaroli F., Esposito W., et al. Hepatobiliary phospholipid transporter ABCB4, MDR3 gene variants in a large cohort of Italian women with intrahepatic cholestasis of pregnancy. Dig Liver Dis 40 (2008) 366-370
    • (2008) Dig Liver Dis , vol.40 , pp. 366-370
    • Floreani, A.1    Carderi, I.2    Paternoster, D.3    Soardo, G.4    Azzaroli, F.5    Esposito, W.6
  • 63
    • 0037362523 scopus 로고    scopus 로고
    • A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy
    • Gendrot C., Bacq Y., Brechot M.C., Lansac J., and Andres C. A second heterozygous MDR3 nonsense mutation associated with intrahepatic cholestasis of pregnancy. J Med Genet 40 (2003) e32
    • (2003) J Med Genet , vol.40
    • Gendrot, C.1    Bacq, Y.2    Brechot, M.C.3    Lansac, J.4    Andres, C.5
  • 64
    • 0033023251 scopus 로고    scopus 로고
    • Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy
    • Jacquemin E., Cresteil D., Manouvrier S., Boute O., and Hadchouel M. Heterozygous non-sense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 353 (1999) 210-211
    • (1999) Lancet , vol.353 , pp. 210-211
    • Jacquemin, E.1    Cresteil, D.2    Manouvrier, S.3    Boute, O.4    Hadchouel, M.5
  • 66
    • 33847005118 scopus 로고    scopus 로고
    • Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene
    • Wasmuth H.E., Glantz A., Keppeler H., Simon E., Bartz C., Rath W., et al. Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene. Gut 56 (2007) 265-270
    • (2007) Gut , vol.56 , pp. 265-270
    • Wasmuth, H.E.1    Glantz, A.2    Keppeler, H.3    Simon, E.4    Bartz, C.5    Rath, W.6
  • 68
  • 69
    • 0035053975 scopus 로고    scopus 로고
    • MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis
    • Rosmorduc O., Hermelin B., and Poupon R. MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. Gastroenterology 120 (2001) 1459-1467
    • (2001) Gastroenterology , vol.120 , pp. 1459-1467
    • Rosmorduc, O.1    Hermelin, B.2    Poupon, R.3
  • 71
    • 34547382615 scopus 로고    scopus 로고
    • Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene
    • Rosmorduc O., and Poupon R. Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene. Orphanet J Rare Dis 2 (2007) 29
    • (2007) Orphanet J Rare Dis , vol.2 , pp. 29
    • Rosmorduc, O.1    Poupon, R.2
  • 72
    • 0037379732 scopus 로고    scopus 로고
    • A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis
    • Lucena J.F., Herrero J.I., Quiroga J., Sangro B., Garcia-Foncillas J., Zabalegui N., et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 124 (2003) 1037-1042
    • (2003) Gastroenterology , vol.124 , pp. 1037-1042
    • Lucena, J.F.1    Herrero, J.I.2    Quiroga, J.3    Sangro, B.4    Garcia-Foncillas, J.5    Zabalegui, N.6
  • 73
    • 0035985610 scopus 로고    scopus 로고
    • Expression of multidrug resistance-associated protein 2 (MRP2) in normal human tissues and carcinomas using tissue microarrays
    • Sandusky G.E., Mintze K.S., Pratt S.E., and Dantzig A.H. Expression of multidrug resistance-associated protein 2 (MRP2) in normal human tissues and carcinomas using tissue microarrays. Histopathology 41 (2002) 65-74
    • (2002) Histopathology , vol.41 , pp. 65-74
    • Sandusky, G.E.1    Mintze, K.S.2    Pratt, S.E.3    Dantzig, A.H.4
  • 74
    • 0033032730 scopus 로고    scopus 로고
    • Expression of the MRP2 gene-encoded conjugate export pump in human kidney proximal tubules and in renal cell carcinoma
    • Schaub T.P., Kartenbeck J., Konig J., Spring H., Dorsam J., Staehler G., et al. Expression of the MRP2 gene-encoded conjugate export pump in human kidney proximal tubules and in renal cell carcinoma. J Am Soc Nephrol 10 (1999) 1159-1169
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1159-1169
    • Schaub, T.P.1    Kartenbeck, J.2    Konig, J.3    Spring, H.4    Dorsam, J.5    Staehler, G.6
  • 75
    • 0032769284 scopus 로고    scopus 로고
    • Transport of monoglucuronosyl and bisglucuronosyl bilirubin by recombinant human and rat multidrug resistance protein 2
    • Kamisako T., Leier I., Cui Y., Konig J., Buchholz U., Hummel-Eisenbeiss J., et al. Transport of monoglucuronosyl and bisglucuronosyl bilirubin by recombinant human and rat multidrug resistance protein 2. Hepatology 30 (1999) 485-490
    • (1999) Hepatology , vol.30 , pp. 485-490
    • Kamisako, T.1    Leier, I.2    Cui, Y.3    Konig, J.4    Buchholz, U.5    Hummel-Eisenbeiss, J.6
  • 76
    • 0035831094 scopus 로고    scopus 로고
    • Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump
    • Akita H., Suzuki H., Ito K., Kinoshita S., Sato N., Takikawa H., et al. Characterization of bile acid transport mediated by multidrug resistance associated protein 2 and bile salt export pump. Biochim Biophys Acta 1511 (2001) 7-16
    • (2001) Biochim Biophys Acta , vol.1511 , pp. 7-16
    • Akita, H.1    Suzuki, H.2    Ito, K.3    Kinoshita, S.4    Sato, N.5    Takikawa, H.6
  • 77
    • 33749174572 scopus 로고    scopus 로고
    • Identification of a novel 974C → G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids
    • Corpechot C., Ping C., Wendum D., Matsuda F., Barbu V., and Poupon R. Identification of a novel 974C → G nonsense mutation of the MRP2/ABCC2 gene in a patient with Dubin-Johnson syndrome and analysis of the effects of rifampicin and ursodeoxycholic acid on serum bilirubin and bile acids. Am J Gastroenterol 101 (2006) 2427-2432
    • (2006) Am J Gastroenterol , vol.101 , pp. 2427-2432
    • Corpechot, C.1    Ping, C.2    Wendum, D.3    Matsuda, F.4    Barbu, V.5    Poupon, R.6
  • 78
    • 0000552161 scopus 로고
    • Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases
    • Dubin I.N., and Johnson F.B. Chronic idiopathic jaundice with unidentified pigment in liver cells; a new clinicopathologic entity with a report of 12 cases. Medicine (Baltimore) 33 (1954) 155-197
    • (1954) Medicine (Baltimore) , vol.33 , pp. 155-197
    • Dubin, I.N.1    Johnson, F.B.2
  • 79
    • 33845683358 scopus 로고    scopus 로고
    • Dubin-Johnson syndrome - a clinicopathologic study of twenty cases
    • Rastogi A., Krishnani N., and Pandey R. Dubin-Johnson syndrome - a clinicopathologic study of twenty cases. Indian J Pathol Microbiol 49 (2006) 500-504
    • (2006) Indian J Pathol Microbiol , vol.49 , pp. 500-504
    • Rastogi, A.1    Krishnani, N.2    Pandey, R.3
  • 80
    • 33846706434 scopus 로고    scopus 로고
    • The apical conjugate efflux pump ABCC2 (MRP2)
    • Nies A.T., and Keppler D. The apical conjugate efflux pump ABCC2 (MRP2). Pflugers Arch 453 (2007) 643-659
    • (2007) Pflugers Arch , vol.453 , pp. 643-659
    • Nies, A.T.1    Keppler, D.2
  • 81
    • 10444239181 scopus 로고    scopus 로고
    • Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine
    • Klett E.L., Lee M.H., Adams D.B., Chavin K.D., and Patel S.B. Localization of ABCG5 and ABCG8 proteins in human liver, gall bladder and intestine. BMC Gastroenterol 4 (2004) 21
    • (2004) BMC Gastroenterol , vol.4 , pp. 21
    • Klett, E.L.1    Lee, M.H.2    Adams, D.B.3    Chavin, K.D.4    Patel, S.B.5
  • 82
    • 0036731990 scopus 로고    scopus 로고
    • Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface
    • Graf G.A., Li W.P., Gerard R.D., Gelissen I., White A., Cohen J.C., et al. Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface. J Clin Invest 110 (2002) 659-669
    • (2002) J Clin Invest , vol.110 , pp. 659-669
    • Graf, G.A.1    Li, W.P.2    Gerard, R.D.3    Gelissen, I.4    White, A.5    Cohen, J.C.6
  • 83
    • 0348111456 scopus 로고    scopus 로고
    • ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion
    • Graf G.A., Yu L., Li W.P., Gerard R., Tuma P.L., Cohen J.C., et al. ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion. J Biol Chem 278 (2003) 48275-48282
    • (2003) J Biol Chem , vol.278 , pp. 48275-48282
    • Graf, G.A.1    Yu, L.2    Li, W.P.3    Gerard, R.4    Tuma, P.L.5    Cohen, J.C.6
  • 84
    • 17744390348 scopus 로고    scopus 로고
    • Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
    • Berge K.E., Tian H., Graf G.A., Yu L., Grishin N.V., Schultz J., et al. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters. Science 290 (2000) 1771-1775
    • (2000) Science , vol.290 , pp. 1771-1775
    • Berge, K.E.1    Tian, H.2    Graf, G.A.3    Yu, L.4    Grishin, N.V.5    Schultz, J.6
  • 85
    • 0035158733 scopus 로고    scopus 로고
    • Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption
    • Lee M.H., Lu K., Hazard S., Yu H., Shulenin S., Hidaka H., et al. Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption. Nat Genet 27 (2001) 79-83
    • (2001) Nat Genet , vol.27 , pp. 79-83
    • Lee, M.H.1    Lu, K.2    Hazard, S.3    Yu, H.4    Shulenin, S.5    Hidaka, H.6
  • 86
    • 0036351125 scopus 로고    scopus 로고
    • Novel donor splice site mutation of ABCG5 gene in sitosterolemia
    • Lam C.W., Cheng A.W., Tong S.F., and Chan Y.W. Novel donor splice site mutation of ABCG5 gene in sitosterolemia. Mol Genet Metab 75 (2002) 178-180
    • (2002) Mol Genet Metab , vol.75 , pp. 178-180
    • Lam, C.W.1    Cheng, A.W.2    Tong, S.F.3    Chan, Y.W.4
  • 87
    • 0036676124 scopus 로고    scopus 로고
    • Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia
    • Heimerl S., Langmann T., Moehle C., Mauerer R., Dean M., Beil F.U., et al. Mutations in the human ATP-binding cassette transporters ABCG5 and ABCG8 in sitosterolemia. Hum Mutat 20 (2002) 151
    • (2002) Hum Mutat , vol.20 , pp. 151
    • Heimerl, S.1    Langmann, T.2    Moehle, C.3    Mauerer, R.4    Dean, M.5    Beil, F.U.6
  • 89
    • 0043244929 scopus 로고    scopus 로고
    • A 19-year-old man with myocardial infarction and sitosterolemia
    • Katayama T., Satoh T., Yagi T., Hirose N., Kurita Y., Anzai T., et al. A 19-year-old man with myocardial infarction and sitosterolemia. Intern Med 42 (2003) 591-594
    • (2003) Intern Med , vol.42 , pp. 591-594
    • Katayama, T.1    Satoh, T.2    Yagi, T.3    Hirose, N.4    Kurita, Y.5    Anzai, T.6
  • 91
    • 24944465805 scopus 로고    scopus 로고
    • Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia
    • Rees D.C., Iolascon A., Carella M., O'marcaigh A.S., Kendra J.R., Jowitt S.N., et al. Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia. Br J Haematol 130 (2005) 297-309
    • (2005) Br J Haematol , vol.130 , pp. 297-309
    • Rees, D.C.1    Iolascon, A.2    Carella, M.3    O'marcaigh, A.S.4    Kendra, J.R.5    Jowitt, S.N.6
  • 93
    • 0025360188 scopus 로고
    • Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis
    • Hidaka H., Nakamura T., Aoki T., Kojima H., Nakajima Y., Kosugi K., et al. Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis. J Lipid Res 31 (1990) 881-888
    • (1990) J Lipid Res , vol.31 , pp. 881-888
    • Hidaka, H.1    Nakamura, T.2    Aoki, T.3    Kojima, H.4    Nakajima, Y.5    Kosugi, K.6
  • 94
    • 0034945397 scopus 로고    scopus 로고
    • Ursodeoxycholic acid 'mechanisms of action and clinical use in hepatobiliary disorders'
    • Lazaridis K.N., Gores G.J., and Lindor K.D. Ursodeoxycholic acid 'mechanisms of action and clinical use in hepatobiliary disorders'. J Hepatol 35 (2001) 134-146
    • (2001) J Hepatol , vol.35 , pp. 134-146
    • Lazaridis, K.N.1    Gores, G.J.2    Lindor, K.D.3
  • 95
    • 0036725044 scopus 로고    scopus 로고
    • Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited
    • Paumgartner G., and Beuers U. Ursodeoxycholic acid in cholestatic liver disease: mechanisms of action and therapeutic use revisited. Hepatology 36 (2002) 525-531
    • (2002) Hepatology , vol.36 , pp. 525-531
    • Paumgartner, G.1    Beuers, U.2
  • 96
    • 0035038177 scopus 로고    scopus 로고
    • Tauroursodeoxycholic acid inserts the apical conjugate export pump, Mrp2, into canalicular membranes and stimulates organic anion secretion by protein kinase C-dependent mechanisms in cholestatic rat liver
    • Beuers U., Bilzer M., Chittattu A., Kullak-Ublick G.A., Keppler D., Paumgartner G., et al. Tauroursodeoxycholic acid inserts the apical conjugate export pump, Mrp2, into canalicular membranes and stimulates organic anion secretion by protein kinase C-dependent mechanisms in cholestatic rat liver. Hepatology 33 (2001) 1206-1216
    • (2001) Hepatology , vol.33 , pp. 1206-1216
    • Beuers, U.1    Bilzer, M.2    Chittattu, A.3    Kullak-Ublick, G.A.4    Keppler, D.5    Paumgartner, G.6
  • 97
    • 0036667784 scopus 로고    scopus 로고
    • Effect of ursodeoxycholic acid on the expression of the hepatocellular bile acid transporters (Ntcp and bsep) in rats with estrogen-induced cholestasis
    • Dumont M., Emmanuel J., and Serge E. Effect of ursodeoxycholic acid on the expression of the hepatocellular bile acid transporters (Ntcp and bsep) in rats with estrogen-induced cholestasis. J Pediatr Gastroenterol Nutr 35 (2002) 185-191
    • (2002) J Pediatr Gastroenterol Nutr , vol.35 , pp. 185-191
    • Dumont, M.1    Emmanuel, J.2    Serge, E.3
  • 98
    • 0034949811 scopus 로고    scopus 로고
    • Effects of ursodeoxycholic and cholic acid feeding on hepatocellular transporter expression in mouse liver
    • Fickert P., Zollner G., Fuchsbichler A., Stumptner C., Pojer C., Zenz R., et al. Effects of ursodeoxycholic and cholic acid feeding on hepatocellular transporter expression in mouse liver. Gastroenterology 121 (2001) 170-183
    • (2001) Gastroenterology , vol.121 , pp. 170-183
    • Fickert, P.1    Zollner, G.2    Fuchsbichler, A.3    Stumptner, C.4    Pojer, C.5    Zenz, R.6
  • 99
    • 23244465392 scopus 로고    scopus 로고
    • Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans
    • Marschall H.U., Wagner M., Zollner G., Fickert P., Diczfalusy U., Gumhold J., et al. Complementary stimulation of hepatobiliary transport and detoxification systems by rifampicin and ursodeoxycholic acid in humans. Gastroenterology 129 (2005) 476-485
    • (2005) Gastroenterology , vol.129 , pp. 476-485
    • Marschall, H.U.1    Wagner, M.2    Zollner, G.3    Fickert, P.4    Diczfalusy, U.5    Gumhold, J.6
  • 100
    • 32044462778 scopus 로고    scopus 로고
    • Novel biotransformation and physiological properties of norursodeoxycholic acid in humans
    • Hofmann A.F., Zakko S.F., Lira M., Clerici C., Hagey L.R., Lambert K.K., et al. Novel biotransformation and physiological properties of norursodeoxycholic acid in humans. Hepatology 42 (2005) 1391-1398
    • (2005) Hepatology , vol.42 , pp. 1391-1398
    • Hofmann, A.F.1    Zakko, S.F.2    Lira, M.3    Clerici, C.4    Hagey, L.R.5    Lambert, K.K.6
  • 102
    • 0031049399 scopus 로고    scopus 로고
    • Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis
    • Jacquemin E., Hermans D., Myara A., Habes D., Debray D., Hadchouel M., et al. Ursodeoxycholic acid therapy in pediatric patients with progressive familial intrahepatic cholestasis. Hepatology 25 (1997) 519-523
    • (1997) Hepatology , vol.25 , pp. 519-523
    • Jacquemin, E.1    Hermans, D.2    Myara, A.3    Habes, D.4    Debray, D.5    Hadchouel, M.6
  • 103
    • 0035045719 scopus 로고    scopus 로고
    • The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood
    • Jacquemin E., De Vree J.M., Cresteil D., Sokal E.M., Sturm E., Dumont M., et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 120 (2001) 1448-1458
    • (2001) Gastroenterology , vol.120 , pp. 1448-1458
    • Jacquemin, E.1    De Vree, J.M.2    Cresteil, D.3    Sokal, E.M.4    Sturm, E.5    Dumont, M.6
  • 104
    • 13244262821 scopus 로고    scopus 로고
    • Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy
    • Wanty C., Joomye R., Van H.N., Paul K., Otte J.B., Reding R., et al. Fifteen years single center experience in the management of progressive familial intrahepatic cholestasis of infancy. Acta Gastroenterol Belg 67 (2004) 313-319
    • (2004) Acta Gastroenterol Belg , vol.67 , pp. 313-319
    • Wanty, C.1    Joomye, R.2    Van, H.N.3    Paul, K.4    Otte, J.B.5    Reding, R.6
  • 105
    • 0034234803 scopus 로고    scopus 로고
    • Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol
    • Morton D.H., Salen G., Batta A.K., Shefer S., Tint G.S., Belchis D., et al. Abnormal hepatic sinusoidal bile acid transport in an Amish kindred is not linked to FIC1 and is improved by ursodiol. Gastroenterology 119 (2000) 188-195
    • (2000) Gastroenterology , vol.119 , pp. 188-195
    • Morton, D.H.1    Salen, G.2    Batta, A.K.3    Shefer, S.4    Tint, G.S.5    Belchis, D.6
  • 106
    • 0344563417 scopus 로고    scopus 로고
    • Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion
    • Ismail H., Kalicinski P., Markiewicz M., Jankowska I., Pawlowska J., Kluge P., et al. Treatment of progressive familial intrahepatic cholestasis: liver transplantation or partial external biliary diversion. Pediatr Transplant 3 (1999) 219-224
    • (1999) Pediatr Transplant , vol.3 , pp. 219-224
    • Ismail, H.1    Kalicinski, P.2    Markiewicz, M.3    Jankowska, I.4    Pawlowska, J.5    Kluge, P.6
  • 109
    • 34547759771 scopus 로고    scopus 로고
    • Partial internal biliary diversion through a cholecystojejunocolonic anastomosis - a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report
    • Bustorff-Silva J., Sbraggia N.L., Olimpio H., de Alcantara R.V., Matsushima E., De Tommaso A.M., et al. Partial internal biliary diversion through a cholecystojejunocolonic anastomosis - a novel surgical approach for patients with progressive familial intrahepatic cholestasis: a preliminary report. J Pediatr Surg 42 (2007) 1337-1340
    • (2007) J Pediatr Surg , vol.42 , pp. 1337-1340
    • Bustorff-Silva, J.1    Sbraggia, N.L.2    Olimpio, H.3    de Alcantara, R.V.4    Matsushima, E.5    De Tommaso, A.M.6
  • 112
    • 0141706384 scopus 로고    scopus 로고
    • Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile
    • Kurbegov A.C., Setchell K.D., Haas J.E., Mierau G.W., Narkewicz M., Bancroft J.D., et al. Biliary diversion for progressive familial intrahepatic cholestasis: improved liver morphology and bile acid profile. Gastroenterology 125 (2003) 1227-1234
    • (2003) Gastroenterology , vol.125 , pp. 1227-1234
    • Kurbegov, A.C.1    Setchell, K.D.2    Haas, J.E.3    Mierau, G.W.4    Narkewicz, M.5    Bancroft, J.D.6
  • 114
    • 0026050266 scopus 로고
    • Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism
    • Crosignani A., Podda M., Bertolini E., Battezzati P.M., Zuin M., and Setchell K.D. Failure of ursodeoxycholic acid to prevent a cholestatic episode in a patient with benign recurrent intrahepatic cholestasis: a study of bile acid metabolism. Hepatology 13 (1991) 1076-1083
    • (1991) Hepatology , vol.13 , pp. 1076-1083
    • Crosignani, A.1    Podda, M.2    Bertolini, E.3    Battezzati, P.M.4    Zuin, M.5    Setchell, K.D.6
  • 115
    • 0032172828 scopus 로고    scopus 로고
    • Unexpected clinical remission of cholestasis after rifampicin therapy in patients with normal or slightly increased levels of gamma-glutamyl transpeptidase
    • Cancado E.L., Leitao R.M., Carrilho F.J., and Laudanna A.A. Unexpected clinical remission of cholestasis after rifampicin therapy in patients with normal or slightly increased levels of gamma-glutamyl transpeptidase. Am J Gastroenterol 93 (1998) 1510-1517
    • (1998) Am J Gastroenterol , vol.93 , pp. 1510-1517
    • Cancado, E.L.1    Leitao, R.M.2    Carrilho, F.J.3    Laudanna, A.A.4
  • 116
    • 33744490353 scopus 로고    scopus 로고
    • Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents
    • Metzelder M.L., Petersen C., Melter M., and Ure B.M. Modified laparoscopic external biliary diversion for benign recurrent intrahepatic cholestasis in obese adolescents. Pediatr Surg Int 22 (2006) 551-553
    • (2006) Pediatr Surg Int , vol.22 , pp. 551-553
    • Metzelder, M.L.1    Petersen, C.2    Melter, M.3    Ure, B.M.4
  • 117
    • 0036117708 scopus 로고    scopus 로고
    • Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid
    • Regev R.H., Stolar O., Raz A., and Dolfin T. Treatment of severe cholestasis in neonatal Dubin-Johnson syndrome with ursodeoxycholic acid. J Perinat Med 30 (2002) 185-187
    • (2002) J Perinat Med , vol.30 , pp. 185-187
    • Regev, R.H.1    Stolar, O.2    Raz, A.3    Dolfin, T.4
  • 118
    • 32044467118 scopus 로고    scopus 로고
    • 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice
    • Fickert P., Wagner M., Marschall H.U., Fuchsbichler A., Zollner G., Tsybrovskyy O., et al. 24-norUrsodeoxycholic acid is superior to ursodeoxycholic acid in the treatment of sclerosing cholangitis in Mdr2 (Abcb4) knockout mice. Gastroenterology 130 (2006) 465-481
    • (2006) Gastroenterology , vol.130 , pp. 465-481
    • Fickert, P.1    Wagner, M.2    Marschall, H.U.3    Fuchsbichler, A.4    Zollner, G.5    Tsybrovskyy, O.6
  • 119
    • 0030159011 scopus 로고    scopus 로고
    • Stimulation of bile acid 6 alpha-hydroxylation by rifampin
    • Wietholtz H., Marschall H.U., Sjovall J., and Matern S. Stimulation of bile acid 6 alpha-hydroxylation by rifampin. J Hepatol 24 (1996) 713-718
    • (1996) J Hepatol , vol.24 , pp. 713-718
    • Wietholtz, H.1    Marschall, H.U.2    Sjovall, J.3    Matern, S.4
  • 120
    • 0030761539 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report
    • Balsells F., Wyllie R., Steffen R., and Kay M. Benign recurrent intrahepatic cholestasis: improvement of pruritus and shortening of the symptomatic phase with rifampin therapy: a case report. Clin Pediatr (Phila) 36 (1997) 483-485
    • (1997) Clin Pediatr (Phila) , vol.36 , pp. 483-485
    • Balsells, F.1    Wyllie, R.2    Steffen, R.3    Kay, M.4
  • 121
    • 0015429678 scopus 로고
    • Effect of cholestyramine on bile acid metabolism in normal man
    • Garbutt J.T., and Kenney T.J. Effect of cholestyramine on bile acid metabolism in normal man. J Clin Invest 51 (1972) 2781-2789
    • (1972) J Clin Invest , vol.51 , pp. 2781-2789
    • Garbutt, J.T.1    Kenney, T.J.2
  • 122
    • 0021139078 scopus 로고
    • Familial intrahepatic cholestasis associated with progressive neuromuscular disease and vitamin E deficiency
    • Nakagawa M., Tazawa Y., Kobayashi Y., Yamada M., Suzuki H., Konno T., et al. Familial intrahepatic cholestasis associated with progressive neuromuscular disease and vitamin E deficiency. J Pediatr Gastroenterol Nutr 3 (1984) 385-389
    • (1984) J Pediatr Gastroenterol Nutr , vol.3 , pp. 385-389
    • Nakagawa, M.1    Tazawa, Y.2    Kobayashi, Y.3    Yamada, M.4    Suzuki, H.5    Konno, T.6
  • 123
    • 0023878924 scopus 로고
    • Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis
    • Whitington P.F., and Whitington G.L. Partial external diversion of bile for the treatment of intractable pruritus associated with intrahepatic cholestasis. Gastroenterology 95 (1988) 130-136
    • (1988) Gastroenterology , vol.95 , pp. 130-136
    • Whitington, P.F.1    Whitington, G.L.2
  • 124
    • 44849098702 scopus 로고    scopus 로고
    • Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation
    • Uegaki S., Tanaka A., Mori Y., Kodama H., Fukusato T., and Takikawa H. Successful treatment with colestimide for a bout of cholestasis in a Japanese patient with benign recurrent intrahepatic cholestasis caused by ATP8B1 mutation. Intern Med 47 (2008) 599-602
    • (2008) Intern Med , vol.47 , pp. 599-602
    • Uegaki, S.1    Tanaka, A.2    Mori, Y.3    Kodama, H.4    Fukusato, T.5    Takikawa, H.6
  • 125
    • 0033050018 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis in a Saudi child
    • Al Drees K., Al Z.A., Al A.A., and Abdulla A. Benign recurrent intrahepatic cholestasis in a Saudi child. Ann Trop Paediatr 19 (1999) 215-217
    • (1999) Ann Trop Paediatr , vol.19 , pp. 215-217
    • Al Drees, K.1    Al, Z.A.2    Al, A.A.3    Abdulla, A.4
  • 127
    • 37349045686 scopus 로고    scopus 로고
    • The 'forgotten' bile acid sequestrants: is now a good time to remember?
    • Bays H.E., and Goldberg R.B. The 'forgotten' bile acid sequestrants: is now a good time to remember?. Am J Ther 14 (2007) 567-580
    • (2007) Am J Ther , vol.14 , pp. 567-580
    • Bays, H.E.1    Goldberg, R.B.2
  • 129
    • 0026349380 scopus 로고
    • Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction
    • Nguyen L.B., Cobb M., Shefer S., Salen G., Ness G.C., and Tint G.S. Regulation of cholesterol biosynthesis in sitosterolemia: effects of lovastatin, cholestyramine, and dietary sterol restriction. J Lipid Res 32 (1991) 1941-1948
    • (1991) J Lipid Res , vol.32 , pp. 1941-1948
    • Nguyen, L.B.1    Cobb, M.2    Shefer, S.3    Salen, G.4    Ness, G.C.5    Tint, G.S.6
  • 130
    • 0022529021 scopus 로고
    • Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis
    • Gregg R.E., Connor W.E., Lin D.S., and Brewer Jr. H.B. Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. J Clin Invest 77 (1986) 1864-1872
    • (1986) J Clin Invest , vol.77 , pp. 1864-1872
    • Gregg, R.E.1    Connor, W.E.2    Lin, D.S.3    Brewer Jr., H.B.4
  • 131
    • 0021856672 scopus 로고
    • Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis
    • Salen G., Kwiterovich Jr. P.O., Shefer S., Tint G.S., Horak I., Shore V., et al. Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis. J Lipid Res 26 (1985) 203-209
    • (1985) J Lipid Res , vol.26 , pp. 203-209
    • Salen, G.1    Kwiterovich Jr., P.O.2    Shefer, S.3    Tint, G.S.4    Horak, I.5    Shore, V.6
  • 132
    • 0029890023 scopus 로고    scopus 로고
    • Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father
    • Cobb M.M., Salen G., Tint G.S., Greenspan J., and Nguyen L.B. Sitosterolemia: opposing effects of cholestyramine and lovastatin on plasma sterol levels in a homozygous girl and her heterozygous father. Metabolism 45 (1996) 673-679
    • (1996) Metabolism , vol.45 , pp. 673-679
    • Cobb, M.M.1    Salen, G.2    Tint, G.S.3    Greenspan, J.4    Nguyen, L.B.5
  • 133
    • 17844405903 scopus 로고    scopus 로고
    • Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis
    • Saich R., Collins P., Ala A., Standish R., and Hodgson H. Benign recurrent intrahepatic cholestasis with secondary renal impairment treated with extracorporeal albumin dialysis. Eur J Gastroenterol Hepatol 17 (2005) 585-588
    • (2005) Eur J Gastroenterol Hepatol , vol.17 , pp. 585-588
    • Saich, R.1    Collins, P.2    Ala, A.3    Standish, R.4    Hodgson, H.5
  • 134
    • 0036385119 scopus 로고    scopus 로고
    • Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC)
    • Sturm E., Franssen C.F., Gouw A., Staels B., Boverhof R., De Knegt R.J., et al. Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). Liver 22 (2002) 72-75
    • (2002) Liver , vol.22 , pp. 72-75
    • Sturm, E.1    Franssen, C.F.2    Gouw, A.3    Staels, B.4    Boverhof, R.5    De Knegt, R.J.6
  • 136
    • 48549083006 scopus 로고    scopus 로고
    • Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases
    • Ekinci S., Karnak I., Gurakan F., Yuce A., Senocak M.E., Cahit T.F., et al. Partial external biliary diversion for the treatment of intractable pruritus in children with progressive familial intrahepatic cholestasis: report of two cases. Surg Today 38 (2008) 726-730
    • (2008) Surg Today , vol.38 , pp. 726-730
    • Ekinci, S.1    Karnak, I.2    Gurakan, F.3    Yuce, A.4    Senocak, M.E.5    Cahit, T.F.6
  • 137
    • 0028811161 scopus 로고
    • Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease)
    • Emond J.C., and Whitington P.F. Selective surgical management of progressive familial intrahepatic cholestasis (Byler's disease). J Pediatr Surg 30 (1995) 1635-1641
    • (1995) J Pediatr Surg , vol.30 , pp. 1635-1641
    • Emond, J.C.1    Whitington, P.F.2
  • 138
    • 0033638340 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients
    • Melter M., Rodeck B., Kardorff R., Hoyer P.F., Petersen C., Ballauff A., et al. Progressive familial intrahepatic cholestasis: partial biliary diversion normalizes serum lipids and improves growth in noncirrhotic patients. Am J Gastroenterol 95 (2000) 3522-3528
    • (2000) Am J Gastroenterol , vol.95 , pp. 3522-3528
    • Melter, M.1    Rodeck, B.2    Kardorff, R.3    Hoyer, P.F.4    Petersen, C.5    Ballauff, A.6
  • 139
    • 0034122267 scopus 로고    scopus 로고
    • Long-term outcome after partial external biliary diversion for intractable pruritus in patients with intrahepatic cholestasis
    • Ng V.L., Ryckman F.C., Porta G., Miura I.K., de C.E., Servidoni M.F., et al. Long-term outcome after partial external biliary diversion for intractable pruritus in patients with intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 30 (2000) 152-156
    • (2000) J Pediatr Gastroenterol Nutr , vol.30 , pp. 152-156
    • Ng, V.L.1    Ryckman, F.C.2    Porta, G.3    Miura, I.K.4    de, C.E.5    Servidoni, M.F.6
  • 140
    • 0033013732 scopus 로고    scopus 로고
    • Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis
    • Rebhandl W., Felberbauer F.X., Turnbull J., Paya K., Barcik U., Huber W.D., et al. Biliary diversion by use of the appendix (cholecystoappendicostomy) in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 28 (1999) 217-219
    • (1999) J Pediatr Gastroenterol Nutr , vol.28 , pp. 217-219
    • Rebhandl, W.1    Felberbauer, F.X.2    Turnbull, J.3    Paya, K.4    Barcik, U.5    Huber, W.D.6
  • 141
    • 47049122466 scopus 로고    scopus 로고
    • Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis
    • Arnell H., Bergdahl S., Papadogiannakis N., Nemeth A., and Fischler B. Preoperative observations and short-term outcome after partial external biliary diversion in 13 patients with progressive familial intrahepatic cholestasis. J Pediatr Surg 43 (2008) 1312-1320
    • (2008) J Pediatr Surg , vol.43 , pp. 1312-1320
    • Arnell, H.1    Bergdahl, S.2    Papadogiannakis, N.3    Nemeth, A.4    Fischler, B.5
  • 142
    • 28344447963 scopus 로고    scopus 로고
    • Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach
    • Metzelder M.L., Bottlander M., Melter M., Petersen C., and Ure B.M. Laparoscopic partial external biliary diversion procedure in progressive familial intrahepatic cholestasis: a new approach. Surg Endosc 19 (2005) 1641-1643
    • (2005) Surg Endosc , vol.19 , pp. 1641-1643
    • Metzelder, M.L.1    Bottlander, M.2    Melter, M.3    Petersen, C.4    Ure, B.M.5
  • 143
    • 68949130861 scopus 로고    scopus 로고
    • Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and alagille disease
    • Yang H., Porte R.J., Verkade H.J., De Langen Z.J., and Hulscher J.B. Partial external biliary diversion in children with progressive familial intrahepatic cholestasis and alagille disease. J Pediatr Gastroenterol Nutr (2009)
    • (2009) J Pediatr Gastroenterol Nutr
    • Yang, H.1    Porte, R.J.2    Verkade, H.J.3    De Langen, Z.J.4    Hulscher, J.B.5
  • 144
    • 0344876490 scopus 로고    scopus 로고
    • Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass
    • Kalicinski P.J., Ismail H., Jankowska I., Kaminski A., Pawlowska J., Drewniak T., et al. Surgical treatment of progressive familial intrahepatic cholestasis: comparison of partial external biliary diversion and ileal bypass. Eur J Pediatr Surg 13 (2003) 307-311
    • (2003) Eur J Pediatr Surg , vol.13 , pp. 307-311
    • Kalicinski, P.J.1    Ismail, H.2    Jankowska, I.3    Kaminski, A.4    Pawlowska, J.5    Drewniak, T.6
  • 147
    • 34547400999 scopus 로고    scopus 로고
    • Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth
    • Aydogdu S., Cakir M., Arikan C., Tumgor G., Yuksekkaya H.A., Yilmaz F., et al. Liver transplantation for progressive familial intrahepatic cholestasis: clinical and histopathological findings, outcome and impact on growth. Pediatr Transplant 11 (2007) 634-640
    • (2007) Pediatr Transplant , vol.11 , pp. 634-640
    • Aydogdu, S.1    Cakir, M.2    Arikan, C.3    Tumgor, G.4    Yuksekkaya, H.A.5    Yilmaz, F.6
  • 148
    • 0346500878 scopus 로고    scopus 로고
    • Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis
    • Bassas A., Chehab M., Hebby H., Al S.M., Al H.H., Al Z.A., et al. Living related liver transplantation in 13 cases of progressive familial intrahepatic cholestasis. Transplant Proc 35 (2003) 3003-3005
    • (2003) Transplant Proc , vol.35 , pp. 3003-3005
    • Bassas, A.1    Chehab, M.2    Hebby, H.3    Al, S.M.4    Al, H.H.5    Al, Z.A.6
  • 149
    • 33745064532 scopus 로고    scopus 로고
    • Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis
    • Cutillo L., Najimi M., Smets F., Janssen M., Reding R., de Ville de G.J., et al. Safety of living-related liver transplantation for progressive familial intrahepatic cholestasis. Pediatr Transplant 10 (2006) 570-574
    • (2006) Pediatr Transplant , vol.10 , pp. 570-574
    • Cutillo, L.1    Najimi, M.2    Smets, F.3    Janssen, M.4    Reding, R.5    de Ville de, G.J.6
  • 150
    • 0036023931 scopus 로고    scopus 로고
    • Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin
    • Egawa H., Yorifuji T., Sumazaki R., Kimura A., Hasegawa M., and Tanaka K. Intractable diarrhea after liver transplantation for Byler's disease: successful treatment with bile adsorptive resin. Liver Transpl 8 (2002) 714-716
    • (2002) Liver Transpl , vol.8 , pp. 714-716
    • Egawa, H.1    Yorifuji, T.2    Sumazaki, R.3    Kimura, A.4    Hasegawa, M.5    Tanaka, K.6
  • 151
    • 67649228608 scopus 로고    scopus 로고
    • One hundred and thirty-seven living donor pediatric liver transplants at Riyadh Military Hospital. Results and outlook for future
    • Khan I., Al-Shaqrani M.A., Arain Z.B., Al-Hebbi H.A., Wali S.H., and Bassas A.F. One hundred and thirty-seven living donor pediatric liver transplants at Riyadh Military Hospital. Results and outlook for future. Saudi Med J 30 (2009) 403-408
    • (2009) Saudi Med J , vol.30 , pp. 403-408
    • Khan, I.1    Al-Shaqrani, M.A.2    Arain, Z.B.3    Al-Hebbi, H.A.4    Wali, S.H.5    Bassas, A.F.6
  • 152
    • 0037096649 scopus 로고    scopus 로고
    • Bone mineral density and height gain in children with chronic cholestatic liver disease undergoing transplantation
    • D'Antiga L., Moniz C., Buxton-Thomas M., Cheeseman P., Gray B., Abraha H., et al. Bone mineral density and height gain in children with chronic cholestatic liver disease undergoing transplantation. Transplantation 73 (2002) 1788-1793
    • (2002) Transplantation , vol.73 , pp. 1788-1793
    • D'Antiga, L.1    Moniz, C.2    Buxton-Thomas, M.3    Cheeseman, P.4    Gray, B.5    Abraha, H.6
  • 153
    • 67651165367 scopus 로고    scopus 로고
    • Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report
    • Usui M., Isaji S., Das B.C., Kobayashi M., Osawa I., Iida T., et al. Liver retransplantation with external biliary diversion for progressive familial intrahepatic cholestasis type 1: a case report. Pediatr Transplant (2008)
    • (2008) Pediatr Transplant
    • Usui, M.1    Isaji, S.2    Das, B.C.3    Kobayashi, M.4    Osawa, I.5    Iida, T.6
  • 154
    • 68349139310 scopus 로고    scopus 로고
    • Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation
    • Miyagawa-Hayashino A., Egawa H., Yorifuji T., Hasegawa M., Haga H., Tsuruyama T., et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl 15 (2009) 610-618
    • (2009) Liver Transpl , vol.15 , pp. 610-618
    • Miyagawa-Hayashino, A.1    Egawa, H.2    Yorifuji, T.3    Hasegawa, M.4    Haga, H.5    Tsuruyama, T.6
  • 156
    • 0034466173 scopus 로고    scopus 로고
    • Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis
    • De Vree J.M., Ottenhoff R., Bosma P.J., Smith A.J., Aten J., and Oude Elferink R.P. Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology 119 (2000) 1720-1730
    • (2000) Gastroenterology , vol.119 , pp. 1720-1730
    • De Vree, J.M.1    Ottenhoff, R.2    Bosma, P.J.3    Smith, A.J.4    Aten, J.5    Oude Elferink, R.P.6
  • 157
    • 62549114070 scopus 로고    scopus 로고
    • Liver after hepatocyte transplantation for liver-based metabolic disorders in children
    • Quaglia A., Lehec S.C., Hughes R.D., Mitry R.R., Knisely A.S., Devereaux S., et al. Liver after hepatocyte transplantation for liver-based metabolic disorders in children. Cell Transplant 17 (2008) 1403-1414
    • (2008) Cell Transplant , vol.17 , pp. 1403-1414
    • Quaglia, A.1    Lehec, S.C.2    Hughes, R.D.3    Mitry, R.R.4    Knisely, A.S.5    Devereaux, S.6
  • 158
    • 33745084945 scopus 로고    scopus 로고
    • Hepatocyte transplantation for liver-based metabolic disorders
    • Dhawan A., Mitry R.R., and Hughes R.D. Hepatocyte transplantation for liver-based metabolic disorders. J Inherit Metab Dis 29 (2006) 431-435
    • (2006) J Inherit Metab Dis , vol.29 , pp. 431-435
    • Dhawan, A.1    Mitry, R.R.2    Hughes, R.D.3
  • 159
    • 30144433535 scopus 로고    scopus 로고
    • Coordinate transcriptional regulation of transport and metabolism
    • Eloranta J.J., Meier P.J., and Kullak-Ublick G.A. Coordinate transcriptional regulation of transport and metabolism. Methods Enzymol 400 (2005) 511-530
    • (2005) Methods Enzymol , vol.400 , pp. 511-530
    • Eloranta, J.J.1    Meier, P.J.2    Kullak-Ublick, G.A.3
  • 160
    • 9144243644 scopus 로고    scopus 로고
    • Farnesoid X receptor activates transcription of the phospholipid pump MDR3
    • Huang L., Zhao A., Lew J.L., Zhang T., Hrywna Y., Thompson J.R., et al. Farnesoid X receptor activates transcription of the phospholipid pump MDR3. J Biol Chem 278 (2003) 51085-51090
    • (2003) J Biol Chem , vol.278 , pp. 51085-51090
    • Huang, L.1    Zhao, A.2    Lew, J.L.3    Zhang, T.4    Hrywna, Y.5    Thompson, J.R.6
  • 161
    • 0037169551 scopus 로고    scopus 로고
    • Regulation of multidrug resistance-associated protein 2 (ABCC2) by the nuclear receptors pregnane X receptor, farnesoid X-activated receptor, and constitutive androstane receptor
    • Kast H.R., Goodwin B., Tarr P.T., Jones S.A., Anisfeld A.M., Stoltz C.M., et al. Regulation of multidrug resistance-associated protein 2 (ABCC2) by the nuclear receptors pregnane X receptor, farnesoid X-activated receptor, and constitutive androstane receptor. J Biol Chem 277 (2002) 2908-2915
    • (2002) J Biol Chem , vol.277 , pp. 2908-2915
    • Kast, H.R.1    Goodwin, B.2    Tarr, P.T.3    Jones, S.A.4    Anisfeld, A.M.5    Stoltz, C.M.6
  • 162
    • 0036186337 scopus 로고    scopus 로고
    • Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump
    • Plass J.R., Mol O., Heegsma J., Geuken M., Faber K.N., Jansen P.L., et al. Farnesoid X receptor and bile salts are involved in transcriptional regulation of the gene encoding the human bile salt export pump. Hepatology 35 (2002) 589-596
    • (2002) Hepatology , vol.35 , pp. 589-596
    • Plass, J.R.1    Mol, O.2    Heegsma, J.3    Geuken, M.4    Faber, K.N.5    Jansen, P.L.6
  • 163
    • 65549145901 scopus 로고    scopus 로고
    • Nuclear receptors as therapeutic targets in cholestatic liver diseases
    • Zollner G., and Trauner M. Nuclear receptors as therapeutic targets in cholestatic liver diseases. Br J Pharmacol 156 (2009) 7-27
    • (2009) Br J Pharmacol , vol.156 , pp. 7-27
    • Zollner, G.1    Trauner, M.2
  • 164
    • 20944450029 scopus 로고    scopus 로고
    • Protective effects of 6-ethyl chenodeoxycholic acid, a farnesoid X receptor ligand, in estrogen-induced cholestasis
    • Fiorucci S., Clerici C., Antonelli E., Orlandi S., Goodwin B., Sadeghpour B.M., et al. Protective effects of 6-ethyl chenodeoxycholic acid, a farnesoid X receptor ligand, in estrogen-induced cholestasis. J Pharmacol Exp Ther 313 (2005) 604-612
    • (2005) J Pharmacol Exp Ther , vol.313 , pp. 604-612
    • Fiorucci, S.1    Clerici, C.2    Antonelli, E.3    Orlandi, S.4    Goodwin, B.5    Sadeghpour, B.M.6
  • 165
    • 0036614376 scopus 로고    scopus 로고
    • Altered localization and activity of canalicular Mrp2 in estradiol-17beta-d-glucuronide-induced cholestasis
    • Mottino A.D., Cao J., Veggi L.M., Crocenzi F., Roma M.G., and Vore M. Altered localization and activity of canalicular Mrp2 in estradiol-17beta-d-glucuronide-induced cholestasis. Hepatology 35 (2002) 1409-1419
    • (2002) Hepatology , vol.35 , pp. 1409-1419
    • Mottino, A.D.1    Cao, J.2    Veggi, L.M.3    Crocenzi, F.4    Roma, M.G.5    Vore, M.6
  • 166
    • 0033984873 scopus 로고    scopus 로고
    • Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver
    • Stieger B., Fattinger K., Madon J., Kullak-Ublick G.A., and Meier P.J. Drug- and estrogen-induced cholestasis through inhibition of the hepatocellular bile salt export pump (Bsep) of rat liver. Gastroenterology 118 (2000) 422-430
    • (2000) Gastroenterology , vol.118 , pp. 422-430
    • Stieger, B.1    Fattinger, K.2    Madon, J.3    Kullak-Ublick, G.A.4    Meier, P.J.5
  • 167
    • 33646558954 scopus 로고    scopus 로고
    • Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation
    • Demeilliers C., Jacquemin E., Barbu V., Mergey M., Paye F., Fouassier L., et al. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology 43 (2006) 1125-1134
    • (2006) Hepatology , vol.43 , pp. 1125-1134
    • Demeilliers, C.1    Jacquemin, E.2    Barbu, V.3    Mergey, M.4    Paye, F.5    Fouassier, L.6
  • 168
    • 11144355538 scopus 로고    scopus 로고
    • A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion
    • Pawlikowska L., Groen A., Eppens E.F., Kunne C., Ottenhoff R., Looije N., et al. A mouse genetic model for familial cholestasis caused by ATP8B1 mutations reveals perturbed bile salt homeostasis but no impairment in bile secretion. Hum Mol Genet 13 (2004) 881-892
    • (2004) Hum Mol Genet , vol.13 , pp. 881-892
    • Pawlikowska, L.1    Groen, A.2    Eppens, E.F.3    Kunne, C.4    Ottenhoff, R.5    Looije, N.6
  • 169
    • 19544375394 scopus 로고    scopus 로고
    • Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1
    • Alvarez L., Jara P., Sanchez-Sabate E., Hierro L., Larrauri J., Diaz M.C., et al. Reduced hepatic expression of farnesoid X receptor in hereditary cholestasis associated to mutation in ATP8B1. Hum Mol Genet 13 (2004) 2451-2460
    • (2004) Hum Mol Genet , vol.13 , pp. 2451-2460
    • Alvarez, L.1    Jara, P.2    Sanchez-Sabate, E.3    Hierro, L.4    Larrauri, J.5    Diaz, M.C.6
  • 170
    • 10744227867 scopus 로고    scopus 로고
    • Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity
    • Chen F., Ananthanarayanan M., Emre S., Neimark E., Bull L.N., Knisely A.S., et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology 126 (2004) 756-764
    • (2004) Gastroenterology , vol.126 , pp. 756-764
    • Chen, F.1    Ananthanarayanan, M.2    Emre, S.3    Neimark, E.4    Bull, L.N.5    Knisely, A.S.6
  • 171
    • 58149401293 scopus 로고    scopus 로고
    • The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor
    • Frankenberg T., Miloh T., Chen F.Y., Ananthanarayanan M., Sun A.Q., Balasubramaniyan N., et al. The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology 48 (2008) 1896-1905
    • (2008) Hepatology , vol.48 , pp. 1896-1905
    • Frankenberg, T.1    Miloh, T.2    Chen, F.Y.3    Ananthanarayanan, M.4    Sun, A.Q.5    Balasubramaniyan, N.6
  • 172
    • 67449083466 scopus 로고    scopus 로고
    • FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells
    • Koh S., Takada T., Kukuu I., and Suzuki H. FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells. J Gastroenterol (2009)
    • (2009) J Gastroenterol
    • Koh, S.1    Takada, T.2    Kukuu, I.3    Suzuki, H.4
  • 173
    • 66149085686 scopus 로고    scopus 로고
    • Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064
    • Martinez-Fernandez P., Hierro L., Jara P., and Alvarez L. Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. Am J Physiol Gastrointest Liver Physiol 296 (2009) G1119-G1129
    • (2009) Am J Physiol Gastrointest Liver Physiol , vol.296
    • Martinez-Fernandez, P.1    Hierro, L.2    Jara, P.3    Alvarez, L.4
  • 174
    • 34249908931 scopus 로고    scopus 로고
    • Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice
    • Shoda J., Okada K., Inada Y., Kusama H., Utsunomiya H., Oda K., et al. Bezafibrate induces multidrug-resistance P-Glycoprotein 3 expression in cultured human hepatocytes and humanized livers of chimeric mice. Hepatol Res 37 (2007) 548-556
    • (2007) Hepatol Res , vol.37 , pp. 548-556
    • Shoda, J.1    Okada, K.2    Inada, Y.3    Kusama, H.4    Utsunomiya, H.5    Oda, K.6
  • 175
    • 0029922002 scopus 로고    scopus 로고
    • Fibrates induce mdr2 gene expression and biliary phospholipid secretion in the mouse
    • Chianale J., Vollrath V., Wielandt A.M., Amigo L., Rigotti A., Nervi F., et al. Fibrates induce mdr2 gene expression and biliary phospholipid secretion in the mouse. Biochem J 314 (1996) 781-786
    • (1996) Biochem J , vol.314 , pp. 781-786
    • Chianale, J.1    Vollrath, V.2    Wielandt, A.M.3    Amigo, L.4    Rigotti, A.5    Nervi, F.6
  • 176
    • 0035019357 scopus 로고    scopus 로고
    • Study of effectiveness of bezafibrate in the treatment of chronic hepatitis C
    • Kurihara T., Niimi A., Maeda A., Shigemoto M., and Yamashita K. Study of effectiveness of bezafibrate in the treatment of chronic hepatitis C. Am J Gastroenterol 96 (2001) 1659-1660
    • (2001) Am J Gastroenterol , vol.96 , pp. 1659-1660
    • Kurihara, T.1    Niimi, A.2    Maeda, A.3    Shigemoto, M.4    Yamashita, K.5
  • 177
    • 0036143517 scopus 로고    scopus 로고
    • Investigation into the efficacy of bezafibrate against primary biliary cirrhosis, with histological references from cases receiving long term monotherapy
    • Kurihara T., Maeda A., Shigemoto M., Yamashita K., and Hashimoto E. Investigation into the efficacy of bezafibrate against primary biliary cirrhosis, with histological references from cases receiving long term monotherapy. Am J Gastroenterol 97 (2002) 212-214
    • (2002) Am J Gastroenterol , vol.97 , pp. 212-214
    • Kurihara, T.1    Maeda, A.2    Shigemoto, M.3    Yamashita, K.4    Hashimoto, E.5
  • 178
  • 179
    • 0033792659 scopus 로고    scopus 로고
    • Bezafibrate in the treatment of primary biliary cirrhosis: comparison with ursodeoxycholic acid
    • Kurihara T., Niimi A., Maeda A., Shigemoto M., and Yamashita K. Bezafibrate in the treatment of primary biliary cirrhosis: comparison with ursodeoxycholic acid. Am J Gastroenterol 95 (2000) 2990-2992
    • (2000) Am J Gastroenterol , vol.95 , pp. 2990-2992
    • Kurihara, T.1    Niimi, A.2    Maeda, A.3    Shigemoto, M.4    Yamashita, K.5
  • 180
    • 0037448352 scopus 로고    scopus 로고
    • A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency
    • Hacein-Bey-Abina S., Von K.C., Schmidt M., Le D.F., Wulffraat N., McIntyre E., et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 348 (2003) 255-256
    • (2003) N Engl J Med , vol.348 , pp. 255-256
    • Hacein-Bey-Abina, S.1    Von, K.C.2    Schmidt, M.3    Le, D.F.4    Wulffraat, N.5    McIntyre, E.6
  • 181
    • 0014303830 scopus 로고
    • Mechanism of action of streptomycin in E. coli: interruption of the ribosome cycle at the initiation of protein synthesis
    • Luzzatto L., Apirion D., and Schlessinger D. Mechanism of action of streptomycin in E. coli: interruption of the ribosome cycle at the initiation of protein synthesis. Proc Natl Acad Sci USA 60 (1968) 873-880
    • (1968) Proc Natl Acad Sci USA , vol.60 , pp. 873-880
    • Luzzatto, L.1    Apirion, D.2    Schlessinger, D.3
  • 182
    • 0021710384 scopus 로고
    • Streptomycin preferentially perturbs ribosomal proofreading
    • Ruusala T., and Kurland C.G. Streptomycin preferentially perturbs ribosomal proofreading. Mol Gen Genet 198 (1984) 100-104
    • (1984) Mol Gen Genet , vol.198 , pp. 100-104
    • Ruusala, T.1    Kurland, C.G.2
  • 183
    • 0034961464 scopus 로고    scopus 로고
    • Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis
    • Clancy J.P., Bebok Z., Ruiz F., King C., Jones J., Walker L., et al. Evidence that systemic gentamicin suppresses premature stop mutations in patients with cystic fibrosis. Am J Respir Crit Care Med 163 (2001) 1683-1692
    • (2001) Am J Respir Crit Care Med , vol.163 , pp. 1683-1692
    • Clancy, J.P.1    Bebok, Z.2    Ruiz, F.3    King, C.4    Jones, J.5    Walker, L.6
  • 184
    • 0141863491 scopus 로고    scopus 로고
    • Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations
    • Wilschanski M., Yahav Y., Yaacov Y., Blau H., Bentur L., Rivlin J., et al. Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349 (2003) 1433-1441
    • (2003) N Engl J Med , vol.349 , pp. 1433-1441
    • Wilschanski, M.1    Yahav, Y.2    Yaacov, Y.3    Blau, H.4    Bentur, L.5    Rivlin, J.6
  • 186
    • 33947529670 scopus 로고    scopus 로고
    • Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers
    • Hirawat S., Welch E.M., Elfring G.L., Northcutt V.J., Paushkin S., Hwang S., et al. Safety, tolerability, and pharmacokinetics of PTC124, a nonaminoglycoside nonsense mutation suppressor, following single- and multiple-dose administration to healthy male and female adult volunteers. J Clin Pharmacol 47 (2007) 430-444
    • (2007) J Clin Pharmacol , vol.47 , pp. 430-444
    • Hirawat, S.1    Welch, E.M.2    Elfring, G.L.3    Northcutt, V.J.4    Paushkin, S.5    Hwang, S.6
  • 187
    • 50149098401 scopus 로고    scopus 로고
    • Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial
    • Kerem E., Hirawat S., Armoni S., Yaakov Y., Shoseyov D., Cohen M., et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial. Lancet 372 (2008) 719-727
    • (2008) Lancet , vol.372 , pp. 719-727
    • Kerem, E.1    Hirawat, S.2    Armoni, S.3    Yaakov, Y.4    Shoseyov, D.5    Cohen, M.6
  • 188
    • 0842324676 scopus 로고    scopus 로고
    • Role of quality control pathways in human diseases involving protein misfolding
    • Welch W.J. Role of quality control pathways in human diseases involving protein misfolding. Semin Cell Dev Biol 15 (2004) 31-38
    • (2004) Semin Cell Dev Biol , vol.15 , pp. 31-38
    • Welch, W.J.1
  • 189
    • 0026710710 scopus 로고
    • Increased fetal hemoglobin in patients receiving sodium 4-phenylbutyrate
    • Dover G.J., Brusilow S., and Samid D. Increased fetal hemoglobin in patients receiving sodium 4-phenylbutyrate. N Engl J Med 327 (1992) 569-570
    • (1992) N Engl J Med , vol.327 , pp. 569-570
    • Dover, G.J.1    Brusilow, S.2    Samid, D.3
  • 190
    • 0029786498 scopus 로고    scopus 로고
    • Long-term treatment of girls with ornithine transcarbamylase deficiency
    • Maestri N.E., Brusilow S.W., Clissold D.B., and Bassett S.S. Long-term treatment of girls with ornithine transcarbamylase deficiency. N Engl J Med 335 (1996) 855-859
    • (1996) N Engl J Med , vol.335 , pp. 855-859
    • Maestri, N.E.1    Brusilow, S.W.2    Clissold, D.B.3    Bassett, S.S.4
  • 191
    • 0034099743 scopus 로고    scopus 로고
    • Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR
    • Rubenstein R.C., and Zeitlin P.L. Sodium 4-phenylbutyrate downregulates Hsc70: implications for intracellular trafficking of DeltaF508-CFTR. Am J Physiol Cell Physiol 278 (2000) C259-C267
    • (2000) Am J Physiol Cell Physiol , vol.278
    • Rubenstein, R.C.1    Zeitlin, P.L.2
  • 192
    • 0034805392 scopus 로고    scopus 로고
    • Sodium 4-phenylbutyrate downregulates HSC70 expression by facilitating mRNA degradation
    • Rubenstein R.C., and Lyons B.M. Sodium 4-phenylbutyrate downregulates HSC70 expression by facilitating mRNA degradation. Am J Physiol Lung Cell Mol Physiol 281 (2001) L43-L51
    • (2001) Am J Physiol Lung Cell Mol Physiol , vol.281
    • Rubenstein, R.C.1    Lyons, B.M.2
  • 194
    • 0030809817 scopus 로고    scopus 로고
    • In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR
    • Rubenstein R.C., Egan M.E., and Zeitlin P.L. In vitro pharmacologic restoration of CFTR-mediated chloride transport with sodium 4-phenylbutyrate in cystic fibrosis epithelial cells containing delta F508-CFTR. J Clin Invest 100 (1997) 2457-2465
    • (1997) J Clin Invest , vol.100 , pp. 2457-2465
    • Rubenstein, R.C.1    Egan, M.E.2    Zeitlin, P.L.3
  • 195
    • 0031889082 scopus 로고    scopus 로고
    • A pilot clinical trial of oral sodium 4-phenylbutyrate (buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function
    • Rubenstein R.C., and Zeitlin P.L. A pilot clinical trial of oral sodium 4-phenylbutyrate (buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function. Am J Respir Crit Care Med 157 (1998) 484-490
    • (1998) Am J Respir Crit Care Med , vol.157 , pp. 484-490
    • Rubenstein, R.C.1    Zeitlin, P.L.2
  • 196
    • 0036665609 scopus 로고    scopus 로고
    • Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate
    • Zeitlin P.L., Ener-West M., Rubenstein R.C., Boyle M.P., Lee C.K., and Brass-Ernst L. Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate. Mol Ther 6 (2002) 119-126
    • (2002) Mol Ther , vol.6 , pp. 119-126
    • Zeitlin, P.L.1    Ener-West, M.2    Rubenstein, R.C.3    Boyle, M.P.4    Lee, C.K.5    Brass-Ernst, L.6
  • 198
    • 56149102929 scopus 로고    scopus 로고
    • Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II
    • Wang L., Dong H., Soroka C.J., Wei N., Boyer J.L., and Hochstrasser M. Degradation of the bile salt export pump at endoplasmic reticulum in progressive familial intrahepatic cholestasis type II. Hepatology 48 (2008) 1558-1569
    • (2008) Hepatology , vol.48 , pp. 1558-1569
    • Wang, L.1    Dong, H.2    Soroka, C.J.3    Wei, N.4    Boyer, J.L.5    Hochstrasser, M.6
  • 199
    • 75349104710 scopus 로고    scopus 로고
    • A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature
    • Delaunay J.L., Durand-Schneider A.M., Delautier D., Rada A., Gautherot J., Jacquemin E., et al. A missense mutation in ABCB4 gene involved in progressive familial intrahepatic cholestasis type 3 leads to a folding defect that can be rescued by low temperature. Hepatology (2008)
    • (2008) Hepatology
    • Delaunay, J.L.1    Durand-Schneider, A.M.2    Delautier, D.3    Rada, A.4    Gautherot, J.5    Jacquemin, E.6
  • 200
    • 34250339695 scopus 로고    scopus 로고
    • 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps
    • Hayashi H., and Sugiyama Y. 4-phenylbutyrate enhances the cell surface expression and the transport capacity of wild-type and mutated bile salt export pumps. Hepatology 45 (2007) 1506-1516
    • (2007) Hepatology , vol.45 , pp. 1506-1516
    • Hayashi, H.1    Sugiyama, Y.2
  • 201
    • 58849138006 scopus 로고    scopus 로고
    • Short-chain ubiquitination is associated with the degradation rate of a cell-surface-resident bile salt export pump (BSEP/ABCB11)
    • Hayashi H., and Sugiyama Y. Short-chain ubiquitination is associated with the degradation rate of a cell-surface-resident bile salt export pump (BSEP/ABCB11). Mol Pharmacol 75 (2009) 143-150
    • (2009) Mol Pharmacol , vol.75 , pp. 143-150
    • Hayashi, H.1    Sugiyama, Y.2
  • 202
    • 36048976850 scopus 로고    scopus 로고
    • Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases
    • Lam P., Pearson C.L., Soroka C.J., Xu S., Mennone A., and Boyer J.L. Levels of plasma membrane expression in progressive and benign mutations of the bile salt export pump (Bsep/Abcb11) correlate with severity of cholestatic diseases. Am J Physiol Cell Physiol 293 (2007) C1709-C1716
    • (2007) Am J Physiol Cell Physiol , vol.293
    • Lam, P.1    Pearson, C.L.2    Soroka, C.J.3    Xu, S.4    Mennone, A.5    Boyer, J.L.6
  • 203
    • 39049181751 scopus 로고    scopus 로고
    • Splicing modulation as a modifier of the CFTR function
    • Nissim-Rafinia M., and Kerem B. Splicing modulation as a modifier of the CFTR function. Prog Mol Subcell Biol 44 (2006) 233-254
    • (2006) Prog Mol Subcell Biol , vol.44 , pp. 233-254
    • Nissim-Rafinia, M.1    Kerem, B.2
  • 204
    • 0042420388 scopus 로고    scopus 로고
    • Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene
    • Aznarez I., Chan E.M., Zielenski J., Blencowe B.J., and Tsui L.C. Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene. Hum Mol Genet 12 (2003) 2031-2040
    • (2003) Hum Mol Genet , vol.12 , pp. 2031-2040
    • Aznarez, I.1    Chan, E.M.2    Zielenski, J.3    Blencowe, B.J.4    Tsui, L.C.5
  • 205
    • 0013394889 scopus 로고    scopus 로고
    • Mechanisms of alternative pre-messenger RNA splicing
    • Black D.L. Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem 72 (2003) 291-336
    • (2003) Annu Rev Biochem , vol.72 , pp. 291-336
    • Black, D.L.1
  • 206
    • 10044270719 scopus 로고    scopus 로고
    • Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation
    • Nissim-Rafinia M., Aviram M., Randell S.H., Shushi L., Ozeri E., Chiba-Falek O., et al. Restoration of the cystic fibrosis transmembrane conductance regulator function by splicing modulation. EMBO Rep 5 (2004) 1071-1077
    • (2004) EMBO Rep , vol.5 , pp. 1071-1077
    • Nissim-Rafinia, M.1    Aviram, M.2    Randell, S.H.3    Shushi, L.4    Ozeri, E.5    Chiba-Falek, O.6
  • 207
    • 58349094327 scopus 로고    scopus 로고
    • Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping
    • Madden H.R., Fletcher S., Davis M.R., and Wilton S.D. Characterization of a complex Duchenne muscular dystrophy-causing dystrophin gene inversion and restoration of the reading frame by induced exon skipping. Hum Mutat 30 (2009) 22-28
    • (2009) Hum Mutat , vol.30 , pp. 22-28
    • Madden, H.R.1    Fletcher, S.2    Davis, M.R.3    Wilton, S.D.4
  • 209
    • 61649121051 scopus 로고    scopus 로고
    • Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations
    • Pros E., Fernandez-Rodriguez J., Canet B., Benito L., Sanchez A., Benavides A., et al. Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations. Hum Mutat 30 (2009) 454-462
    • (2009) Hum Mutat , vol.30 , pp. 454-462
    • Pros, E.1    Fernandez-Rodriguez, J.2    Canet, B.3    Benito, L.4    Sanchez, A.5    Benavides, A.6
  • 210
    • 33646362257 scopus 로고    scopus 로고
    • Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis
    • Salen G., Starc T., Sisk C.M., and Patel S.B. Intestinal cholesterol absorption inhibitor ezetimibe added to cholestyramine for sitosterolemia and xanthomatosis. Gastroenterology 130 (2006) 1853-1857
    • (2006) Gastroenterology , vol.130 , pp. 1853-1857
    • Salen, G.1    Starc, T.2    Sisk, C.M.3    Patel, S.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.