-
2
-
-
0036074018
-
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
-
3
-
-
0031907132
-
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis
-
Bull L.N., van Eijk M.J., Pawlikowska L., DeYoung J.A., Juijn J.A., Liao M., et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 18 (1998) 219-224
-
(1998)
Nat Genet
, vol.18
, pp. 219-224
-
-
Bull, L.N.1
van Eijk, M.J.2
Pawlikowska, L.3
DeYoung, J.A.4
Juijn, J.A.5
Liao, M.6
-
4
-
-
38649113883
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
13
-
-
44649139336
-
Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice
-
Groen A., Kunne C., Jongsma G., van den O.K., Mok K.S., Petruzzelli M., et al. Abcg5/8 independent biliary cholesterol excretion in Atp8b1-deficient mice. Gastroenterology 134 (2008) 2091-2100
-
(2008)
Gastroenterology
, vol.134
, pp. 2091-2100
-
-
Groen, A.1
Kunne, C.2
Jongsma, G.3
van den, O.K.4
Mok, K.S.5
Petruzzelli, M.6
-
14
-
-
3042782537
-
Characterization of mutations in ATP8B1 associated with hereditary cholestasis
-
Klomp L.W., Vargas J.C., van Mil S.W., Pawlikowska L., Strautnieks S.S., van Eijk M.J., et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 40 (2004) 27-38
-
(2004)
Hepatology
, vol.40
, pp. 27-38
-
-
Klomp, L.W.1
Vargas, J.C.2
van Mil, S.W.3
Pawlikowska, L.4
Strautnieks, S.S.5
van Eijk, M.J.6
-
15
-
-
0033652101
-
A missense mutation in FIC1 is associated with Greenland familial cholestasis
-
Klomp L.W., Bull L.N., Knisely A.S., van Der Doelen M.A., Juijn J.A., Berger R., et al. A missense mutation in FIC1 is associated with Greenland familial cholestasis. Hepatology 32 (2000) 1337-1341
-
(2000)
Hepatology
, vol.32
, pp. 1337-1341
-
-
Klomp, L.W.1
Bull, L.N.2
Knisely, A.S.3
van Der Doelen, M.A.4
Juijn, J.A.5
Berger, R.6
-
16
-
-
0029832666
-
Byler-like familial cholestasis in an extended kindred
-
Bourke B., Goggin N., Walsh D., Kennedy S., Setchell K.D., and Drumm B. Byler-like familial cholestasis in an extended kindred. Arch Dis Child 75 (1996) 223-227
-
(1996)
Arch Dis Child
, vol.75
, pp. 223-227
-
-
Bourke, B.1
Goggin, N.2
Walsh, D.3
Kennedy, S.4
Setchell, K.D.5
Drumm, B.6
-
17
-
-
0014442684
-
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
-
19
-
-
0024433711
-
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
-
20
-
-
0029010385
-
Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis
-
De Koning T.J., Sandkuijl L.A., De Schryver J.E., Hennekam E.A., Beemer F.A., and Houwen R.H. Autosomal-recessive inheritance of benign recurrent intrahepatic cholestasis. Am J Med Genet 57 (1995) 479-482
-
(1995)
Am J Med Genet
, vol.57
, pp. 479-482
-
-
De Koning, T.J.1
Sandkuijl, L.A.2
De Schryver, J.E.3
Hennekam, E.A.4
Beemer, F.A.5
Houwen, R.H.6
-
21
-
-
49749223133
-
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
-
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
-
24
-
-
0036186424
-
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
-
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
-
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
-
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
-
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
-
29
-
-
67649867465
-
ATP8B1 is essential for maintaining normal hearing
-
Stapelbroek J.M., Peters T.A., van Beurden D.H., Curfs J.H., Joosten A., Beynon A.J., et al. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci USA (2009)
-
(2009)
Proc Natl Acad Sci USA
-
-
Stapelbroek, J.M.1
Peters, T.A.2
van Beurden, D.H.3
Curfs, J.H.4
Joosten, A.5
Beynon, A.J.6
-
30
-
-
0036161690
-
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
-
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
-
32
-
-
0030879949
-
Byler's syndrome
-
Knisely A.S., Agostini R.M., Zitelli B.J., Kocoshis S.A., and Boyle J.T. Byler's syndrome. Arch Dis Child 77 (1997) 276-277
-
(1997)
Arch Dis Child
, vol.77
, pp. 276-277
-
-
Knisely, A.S.1
Agostini, R.M.2
Zitelli, B.J.3
Kocoshis, S.A.4
Boyle, J.T.5
-
33
-
-
0032612335
-
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
-
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
-
35
-
-
17144419322
-
Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy
-
Painter J.N., Savander M., Ropponen A., Nupponen N., Riikonen S., Ylikorkala O., et al. Sequence variation in the ATP8B1 gene and intrahepatic cholestasis of pregnancy. Eur J Hum Genet 13 (2005) 435-439
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 435-439
-
-
Painter, J.N.1
Savander, M.2
Ropponen, A.3
Nupponen, N.4
Riikonen, S.5
Ylikorkala, O.6
-
36
-
-
17344366172
-
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
-
37
-
-
41549123313
-
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families
-
Strautnieks S.S., Byrne J.A., Pawlikowska L., Cebecauerova D., Rayner A., Dutton L., et al. Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families. Gastroenterology 134 (2008) 1203-1214
-
(2008)
Gastroenterology
, vol.134
, pp. 1203-1214
-
-
Strautnieks, S.S.1
Byrne, J.A.2
Pawlikowska, L.3
Cebecauerova, D.4
Rayner, A.5
Dutton, L.6
-
38
-
-
0032711405
-
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
-
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
-
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
-
41
-
-
4143073631
-
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
-
van Mil S.W., van der Woerd W.L., van der B.G., Sturm E., Jansen P.L., Bull L.N., et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 127 (2004) 379-384
-
(2004)
Gastroenterology
, vol.127
, pp. 379-384
-
-
van Mil, S.W.1
van der Woerd, W.L.2
van der, B.G.3
Sturm, E.4
Jansen, P.L.5
Bull, L.N.6
-
42
-
-
0035203879
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
52
-
-
0028112934
-
Tissue distribution of the human MDR3 P-glycoprotein
-
Smit J.J., Schinkel A.H., Mol C.A., Majoor D., Mooi W.J., Jongsma A.P., et al. Tissue distribution of the human MDR3 P-glycoprotein. Lab Invest 71 (1994) 638-649
-
(1994)
Lab Invest
, vol.71
, pp. 638-649
-
-
Smit, J.J.1
Schinkel, A.H.2
Mol, C.A.3
Majoor, D.4
Mooi, W.J.5
Jongsma, A.P.6
-
53
-
-
0027969948
-
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
-
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
-
55
-
-
0040284751
-
Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis
-
De Vree J.M., Jacquemin E., Sturm E., Cresteil D., Bosma P.J., Aten J., et al. Mutations in the MDR3 gene cause progressive familial intrahepatic cholestasis. Proc Natl Acad Sci USA 95 (1998) 282-287
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 282-287
-
-
De Vree, J.M.1
Jacquemin, E.2
Sturm, E.3
Cresteil, D.4
Bosma, P.J.5
Aten, J.6
-
56
-
-
36349000557
-
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
-
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
-
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
-
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
-
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
-
61
-
-
33646586087
-
Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations
-
Floreani A., Carderi I., Paternoster D., Soardo G., Azzaroli F., Esposito W., et al. Intrahepatic cholestasis of pregnancy: three novel MDR3 gene mutations. Aliment Pharmacol Ther 23 (2006) 1649-1653
-
(2006)
Aliment Pharmacol Ther
, vol.23
, pp. 1649-1653
-
-
Floreani, A.1
Carderi, I.2
Paternoster, D.3
Soardo, G.4
Azzaroli, F.5
Esposito, W.6
-
62
-
-
41849111312
-
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
-
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
-
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
-
65
-
-
0042278551
-
ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy
-
Mullenbach R., Linton K.J., Wiltshire S., Weerasekera N., Chambers J., Elias E., et al. ABCB4 gene sequence variation in women with intrahepatic cholestasis of pregnancy. J Med Genet 40 (2003) e70
-
(2003)
J Med Genet
, vol.40
-
-
Mullenbach, R.1
Linton, K.J.2
Wiltshire, S.3
Weerasekera, N.4
Chambers, J.5
Elias, E.6
-
66
-
-
33847005118
-
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
-
67
-
-
34147109318
-
Prenatal molecular diagnosis of inherited cholestatic diseases
-
Jung C., Driancourt C., Baussan C., Zater M., Hadchouel M., Meunier-Rotival M., et al. Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr 44 (2007) 453-458
-
(2007)
J Pediatr Gastroenterol Nutr
, vol.44
, pp. 453-458
-
-
Jung, C.1
Driancourt, C.2
Baussan, C.3
Zater, M.4
Hadchouel, M.5
Meunier-Rotival, M.6
-
68
-
-
64749084494
-
ABCB4 sequence variations in young adults with cholesterol gallstone disease
-
Nakken K.E., Labori K.J., Rodningen O.K., Nakken S., Berge K.E., Eiklid K., et al. ABCB4 sequence variations in young adults with cholesterol gallstone disease. Liver Int 29 (2009) 743-747
-
(2009)
Liver Int
, vol.29
, pp. 743-747
-
-
Nakken, K.E.1
Labori, K.J.2
Rodningen, O.K.3
Nakken, S.4
Berge, K.E.5
Eiklid, K.6
-
69
-
-
0035053975
-
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
-
70
-
-
0041665024
-
ABCB4 gene mutation-associated cholelithiasis in adults
-
Rosmorduc O., Hermelin B., Boelle P.Y., Parc R., Taboury J., and Poupon R. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 125 (2003) 452-459
-
(2003)
Gastroenterology
, vol.125
, pp. 452-459
-
-
Rosmorduc, O.1
Hermelin, B.2
Boelle, P.Y.3
Parc, R.4
Taboury, J.5
Poupon, R.6
-
71
-
-
34547382615
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
90
-
-
0029949762
-
Coronary bypass grafts in a young girl with sitosterolemia
-
Kolovou G., Voudris V., Drogari E., Palatianos G., and Cokkinos D.V. Coronary bypass grafts in a young girl with sitosterolemia. Eur Heart J 17 (1996) 965-966
-
(1996)
Eur Heart J
, vol.17
, pp. 965-966
-
-
Kolovou, G.1
Voudris, V.2
Drogari, E.3
Palatianos, G.4
Cokkinos, D.V.5
-
91
-
-
24944465805
-
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
-
92
-
-
32044455530
-
Liver transplantation in a patient with sitosterolemia and cirrhosis
-
Miettinen T.A., Klett E.L., Gylling H., Isoniemi H., and Patel S.B. Liver transplantation in a patient with sitosterolemia and cirrhosis. Gastroenterology 130 (2006) 542-547
-
(2006)
Gastroenterology
, vol.130
, pp. 542-547
-
-
Miettinen, T.A.1
Klett, E.L.2
Gylling, H.3
Isoniemi, H.4
Patel, S.B.5
-
93
-
-
0025360188
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
107
-
-
0030976898
-
Progressive familial intrahepatic cholestasis among the Arab population in Israel
-
Naveh Y., Bassan L., Rosenthal E., Berkowitz D., Jaffe M., Mandel H., et al. Progressive familial intrahepatic cholestasis among the Arab population in Israel. J Pediatr Gastroenterol Nutr 24 (1997) 548-554
-
(1997)
J Pediatr Gastroenterol Nutr
, vol.24
, pp. 548-554
-
-
Naveh, Y.1
Bassan, L.2
Rosenthal, E.3
Berkowitz, D.4
Jaffe, M.5
Mandel, H.6
-
108
-
-
0028107618
-
Clinical and biochemical findings in progressive familial intrahepatic cholestasis
-
Whitington P.F., Freese D.K., Alonso E.M., Schwarzenberg S.J., and Sharp H.L. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 18 (1994) 134-141
-
(1994)
J Pediatr Gastroenterol Nutr
, vol.18
, pp. 134-141
-
-
Whitington, P.F.1
Freese, D.K.2
Alonso, E.M.3
Schwarzenberg, S.J.4
Sharp, H.L.5
-
109
-
-
34547759771
-
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
-
110
-
-
56849131806
-
Bile composition in alagille syndrome and PFIC patients having partial external biliary diversion
-
Emerick K.M., Elias M.S., Melin-Aldana H., Strautnieks S., Thompson R.J., Bull L.N., et al. Bile composition in alagille syndrome and PFIC patients having partial external biliary diversion. BMC Gastroenterol 8 (2008) 47
-
(2008)
BMC Gastroenterol
, vol.8
, pp. 47
-
-
Emerick, K.M.1
Elias, M.S.2
Melin-Aldana, H.3
Strautnieks, S.4
Thompson, R.J.5
Bull, L.N.6
-
111
-
-
38449123587
-
Liver transplantation in children with progressive familial intrahepatic cholestasis
-
Englert C., Grabhorn E., Richter A., Rogiers X., Burdelski M., and Ganschow R. Liver transplantation in children with progressive familial intrahepatic cholestasis. Transplantation 84 (2007) 1361-1363
-
(2007)
Transplantation
, vol.84
, pp. 1361-1363
-
-
Englert, C.1
Grabhorn, E.2
Richter, A.3
Rogiers, X.4
Burdelski, M.5
Ganschow, R.6
-
112
-
-
0141706384
-
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
-
113
-
-
0033505605
-
Use of rifampin for severe pruritus in children with chronic cholestasis
-
Yerushalmi B., Sokol R.J., Narkewicz M.R., Smith D., and Karrer F.M. Use of rifampin for severe pruritus in children with chronic cholestasis. J Pediatr Gastroenterol Nutr 29 (1999) 442-447
-
(1999)
J Pediatr Gastroenterol Nutr
, vol.29
, pp. 442-447
-
-
Yerushalmi, B.1
Sokol, R.J.2
Narkewicz, M.R.3
Smith, D.4
Karrer, F.M.5
-
114
-
-
0026050266
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
128
-
-
0025640870
-
Response to diet and cholestyramine in a patient with sitosterolemia
-
Belamarich P.F., Deckelbaum R.J., Starc T.J., Dobrin B.E., Tint G.S., and Salen G. Response to diet and cholestyramine in a patient with sitosterolemia. Pediatrics 86 (1990) 977-981
-
(1990)
Pediatrics
, vol.86
, pp. 977-981
-
-
Belamarich, P.F.1
Deckelbaum, R.J.2
Starc, T.J.3
Dobrin, B.E.4
Tint, G.S.5
Salen, G.6
-
129
-
-
0026349380
-
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
-
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
-
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
-
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
-
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
-
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
-
135
-
-
0031893282
-
Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus
-
Hollands C.M., Rivera-Pedrogo F.J., Gonzalez-Vallina R., Loret-de-Mola O., Nahmad M., and Burnweit C.A. Ileal exclusion for Byler's disease: an alternative surgical approach with promising early results for pruritus. J Pediatr Surg 33 (1998) 220-224
-
(1998)
J Pediatr Surg
, vol.33
, pp. 220-224
-
-
Hollands, C.M.1
Rivera-Pedrogo, F.J.2
Gonzalez-Vallina, R.3
Loret-de-Mola, O.4
Nahmad, M.5
Burnweit, C.A.6
-
136
-
-
48549083006
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
144
-
-
0344876490
-
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
-
145
-
-
33644792700
-
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis
-
Stapelbroek J.M., van Erpecum K.J., Klomp L.W., Venneman N.G., Schwartz T.P., van Berge-Henegouwen G.P., et al. Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis. Hepatology 43 (2006) 51-53
-
(2006)
Hepatology
, vol.43
, pp. 51-53
-
-
Stapelbroek, J.M.1
van Erpecum, K.J.2
Klomp, L.W.3
Venneman, N.G.4
Schwartz, T.P.5
van Berge-Henegouwen, G.P.6
-
146
-
-
0025205310
-
Orthotopic liver transplantation for Byler disease
-
Soubrane O., Gauthier F., Devictor D., Bernard O., Valayer J., Houssin D., et al. Orthotopic liver transplantation for Byler disease. Transplantation 50 (1990) 804-806
-
(1990)
Transplantation
, vol.50
, pp. 804-806
-
-
Soubrane, O.1
Gauthier, F.2
Devictor, D.3
Bernard, O.4
Valayer, J.5
Houssin, D.6
-
147
-
-
34547400999
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
-
0037734199
-
Efficacy of bezafibrate in a patient with primary sclerosing cholangitis
-
Kurihara T., Maeda A., Shigemoto M., Yamashita K., and Kamatani N. Efficacy of bezafibrate in a patient with primary sclerosing cholangitis. J Gastroenterol 38 (2003) 300-301
-
(2003)
J Gastroenterol
, vol.38
, pp. 300-301
-
-
Kurihara, T.1
Maeda, A.2
Shigemoto, M.3
Yamashita, K.4
Kamatani, N.5
-
179
-
-
0033792659
-
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
-
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
-
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
-
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
-
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
-
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
-
185
-
-
34247588271
-
PTC124 targets genetic disorders caused by nonsense mutations
-
Welch E.M., Barton E.R., Zhuo J., Tomizawa Y., Friesen W.J., Trifillis P., et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 447 (2007) 87-91
-
(2007)
Nature
, vol.447
, pp. 87-91
-
-
Welch, E.M.1
Barton, E.R.2
Zhuo, J.3
Tomizawa, Y.4
Friesen, W.J.5
Trifillis, P.6
-
186
-
-
33947529670
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
197
-
-
75349084239
-
Folding defects in ATP8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate
-
sep 4, Epub ahead of print
-
van der Velden LM, Stapelbroek JM, Krieger E, van den Berghe PV, Berger R, Verhulst PM, et al. Folding defects in ATP8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. Hepatology 2009 sep 4. [Epub ahead of print].
-
(2009)
Hepatology
-
-
van der Velden, L.M.1
Stapelbroek, J.M.2
Krieger, E.3
van den Berghe, P.V.4
Berger, R.5
Verhulst, P.M.6
-
198
-
-
56149102929
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
208
-
-
68249118707
-
Rational design of antisense oligomers to induce dystrophin exon skipping
-
Mitrpant C., Adams A.M., Meloni P.L., Muntoni F., Fletcher S., and Wilton S.D. Rational design of antisense oligomers to induce dystrophin exon skipping. Mol Ther (2009)
-
(2009)
Mol Ther
-
-
Mitrpant, C.1
Adams, A.M.2
Meloni, P.L.3
Muntoni, F.4
Fletcher, S.5
Wilton, S.D.6
-
209
-
-
61649121051
-
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
-
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
-
211
-
-
67649205149
-
EASL clinical practice guidelines: management of cholestatic liver diseases
-
Beuers U., Boberg K.M., Chapman R.W., Chazouillères O., Invernizzi P., Jones D.E.J., et al. EASL clinical practice guidelines: management of cholestatic liver diseases. J Hepatol 51 (2009) 237-267
-
(2009)
J Hepatol
, vol.51
, pp. 237-267
-
-
Beuers, U.1
Boberg, K.M.2
Chapman, R.W.3
Chazouillères, O.4
Invernizzi, P.5
Jones, D.E.J.6
|