-
1
-
-
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
-
2
-
-
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
-
3
-
-
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 U S A 95 (1998) 282-287
-
(1998)
Proc Natl Acad Sci U S A
, 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
-
4
-
-
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
-
5
-
-
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
-
6
-
-
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
-
7
-
-
33645803240
-
Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump
-
Kubitz R., Keitel V., Scheuring S., Kohrer K., and Haussinger D. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol 40 (2006) 171-175
-
(2006)
J Clin Gastroenterol
, vol.40
, pp. 171-175
-
-
Kubitz, R.1
Keitel, V.2
Scheuring, S.3
Kohrer, K.4
Haussinger, D.5
-
8
-
-
4143073631
-
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
-
van Mil S.W., van der Woerd W.L., van der Brugge 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 Brugge, G.3
Sturm, E.4
Jansen, P.L.5
Bull, L.N.6
-
9
-
-
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
-
10
-
-
33746537974
-
Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy
-
Keitel V., Vogt C., Haussinger D., and Kubitz R. Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy. Gastroenterology 131 (2006) 624-629
-
(2006)
Gastroenterology
, vol.131
, pp. 624-629
-
-
Keitel, V.1
Vogt, C.2
Haussinger, D.3
Kubitz, R.4
-
11
-
-
0141613185
-
Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis
-
Goto K., Sugiyama K., Sugiura T., Ando T., Mizutani F., Terabe K., et al. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 36 (2003) 647-650
-
(2003)
J Pediatr Gastroenterol Nutr
, vol.36
, pp. 647-650
-
-
Goto, K.1
Sugiyama, K.2
Sugiura, T.3
Ando, T.4
Mizutani, F.5
Terabe, K.6
-
12
-
-
0036161690
-
FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low g-glutamyl transpeptidase 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 g-glutamyl transpeptidase 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
-
13
-
-
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
-
14
-
-
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
-
15
-
-
0043122919
-
SIFT: predicting amino acid changes that affect protein function
-
Ng P.C., and Henikoff S. SIFT: predicting amino acid changes that affect protein function. Nucleic Acids Res 31 (2003) 3812-3814
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3812-3814
-
-
Ng, P.C.1
Henikoff, S.2
-
16
-
-
0038612980
-
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints
-
Leabman M.K., Huang C.C., DeYoung J., Carlson E.J., Taylor T.R., de la Cruz M., et al. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. PNAS 100 (2003) 5896-5901
-
(2003)
PNAS
, vol.100
, pp. 5896-5901
-
-
Leabman, M.K.1
Huang, C.C.2
DeYoung, J.3
Carlson, E.J.4
Taylor, T.R.5
de la Cruz, M.6
-
17
-
-
23444456468
-
Developmental expression of canalicular transporter genes in human liver
-
Chen H.L., Chen H.L., Liu Y.J., Feng C.H., Wu C.Y., Shyu M.K., et al. Developmental expression of canalicular transporter genes in human liver. J Hepatol 43 (2005) 472-477
-
(2005)
J Hepatol
, vol.43
, pp. 472-477
-
-
Chen, H.L.1
Chen, H.L.2
Liu, Y.J.3
Feng, C.H.4
Wu, C.Y.5
Shyu, M.K.6
-
18
-
-
56049105055
-
-
Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, et al. Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. J Gastroenterol Hepatol (in press).
-
Chen ST, Chen HL, Su YN, Liu YJ, Ni YH, Hsu HY, et al. Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2. J Gastroenterol Hepatol (in press).
-
-
-
-
19
-
-
33747837737
-
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11)
-
Lang T., Haberl M., Jung D., Drescher A., Schlagenhaufer R., Keil A., et al. Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11). Drug Metab Dispos 34 (2006) 1582-1599
-
(2006)
Drug Metab Dispos
, vol.34
, pp. 1582-1599
-
-
Lang, T.1
Haberl, M.2
Jung, D.3
Drescher, A.4
Schlagenhaufer, R.5
Keil, A.6
-
20
-
-
85058201995
-
Genetic analysis of the progressive familial intrahepatic cholestasis
-
Straunieks S.S., Byrne J.A., Mieli-Vergani G., Knisely A.S., Bull L.N., and Thompson R.J. Genetic analysis of the progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 39 suppl 1 (2004) S69
-
(2004)
J Pediatr Gastroenterol Nutr
, vol.39
, Issue.SUPPL. 1
-
-
Straunieks, S.S.1
Byrne, J.A.2
Mieli-Vergani, G.3
Knisely, A.S.4
Bull, L.N.5
Thompson, R.J.6
-
21
-
-
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
-
22
-
-
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
-
23
-
-
33846246813
-
Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis
-
Lu C., Aronow B.J., Jegga A.G., Wang N., Miethke A., Mourya R., et al. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology 132 (2007) 119-126
-
(2007)
Gastroenterology
, vol.132
, pp. 119-126
-
-
Lu, C.1
Aronow, B.J.2
Jegga, A.G.3
Wang, N.4
Miethke, A.5
Mourya, R.6
-
24
-
-
0038059078
-
The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics
-
Frueh F.W., and Noyer-Weidner M. The use of denaturing high-performance liquid chromatography (DHPLC) for the analysis of genetic variations: impact for diagnostics and pharmacogenetics. Clin Chem Lab Med 41 (2003) 452-461
-
(2003)
Clin Chem Lab Med
, vol.41
, pp. 452-461
-
-
Frueh, F.W.1
Noyer-Weidner, M.2
-
25
-
-
0035020939
-
Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counselling
-
Le Maréchal C., Audrézet M.P., Quéré I., Raguénès O., Langonné S., and Férec C. Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (DHPLC): major implications for genetic counselling. Hum Genet 108 (2001) 290-298
-
(2001)
Hum Genet
, vol.108
, pp. 290-298
-
-
Le Maréchal, C.1
Audrézet, M.P.2
Quéré, I.3
Raguénès, O.4
Langonné, S.5
Férec, C.6
-
26
-
-
26244438720
-
DHPLC in clinical molecular diagnostic services
-
Kosaki K., Udaka T., and Okuyama T. DHPLC in clinical molecular diagnostic services. Mol Genet Metab 86 (2005) 117-123
-
(2005)
Mol Genet Metab
, vol.86
, pp. 117-123
-
-
Kosaki, K.1
Udaka, T.2
Okuyama, T.3
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