| 1 | ABCB11, PFIC2
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| Missense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicing.
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| Byrne JA, Strautnieks SS, Ihrke G, Pagani F, Knisely AS, Linton KJ, Mieli-Vergani G, Thompson RJ.
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| Hepatology 49(2):553-67. 2009
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| 2 | ABCB11, PFIC2
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| Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
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| Strautnieks SS, Byrne JA, Pawlikowska L, Cebecauerová D, Rayner A, Dutton L, Meier Y, Antoniou A, Stieger B, Arnell H, Ozçay F, Al-Hussaini HF, Bassas AF, Verkade HJ, Fischler B, Németh A, Kotalová R, Shneider BL, Cielecka-Kuszyk J, McClean P, Whitington PF, Sokal E, Jirsa M, Wali SH, Jankowska I, Paw³owska J, Mieli-Vergani G, Knisely AS, Bull LN, Thompson RJ.
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| Gastroenterology 134(4):1203-14. Epub 2008 Jan 18.
2008
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| 3 | ABCB11, PFIC2, ABCB4
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| Combined mutations of canalicular transporter proteins cause severe intrahepatic cholestasis of pregnancy.
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| Keitel V, Vogt C, Haussinger D, Kubitz R.
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| Gastroenterology 131(2):624-9. 2006
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| 4 | ABCB11, PFIC2
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| Hepatocellular carcinoma in ten children under five years of age with bile salt export pump deficiency.
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| Knisely AS, Strautnieks SS, Meier Y, Stieger B, Byrne JA, Portmann BC, Bull LN, Pawlikowska L, Bilezikci B, Ozcay F, Laszlo A, Tiszlavicz L, Moore L, Raftos J, Arnell H, Fischler B, Nemeth A, Papadogiannakis N, Cielecka-Kuszyk J, Jankowska I, Pawlowska J, Melin-Aldana H, Emerick KM, Whitington PF, Mieli-Vergani G, Thompson RJ.
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| Hepatology 44(2):478-86. 2006
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| 5 | ABCB11, PFIC2
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| High-speed screening and QSAR analysis of human ATP-binding cassette transporter ABCB11 (bile salt export pump) to predict drug-induced intrahepatic cholestasis.
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| Hirano H, Kurata A, Onishi Y, Sakurai A, Saito H, Nakagawa H, Nagakura M, Tarui S, Kanamori Y, Kitajima M, Ishikawa T.
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| Mol Pharm 3(3):252-65. 2006
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| 6 | PFIC2, ABCB11
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| Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.
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| Hayashi H, Takada T, Suzuki H, Akita H, Sugiyama Y.
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| Hepatology 41(4):916-24. 2005
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| 7 | ABCB11, PFIC2
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| Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
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| van Mil SW, van der Woerd WL, van der Brugge G, Sturm E, Jansen PL, Bull LN, van den Berg IE, Berger R, Houwen RH, Klomp LW.
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| Gastroenterology 127(2):379-84. 2004
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| 8 | ABCB11, PFIC2
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| A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
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| Strautnieks SS, Bull LN, Knisely AS, Kocoshis SA, Dahl N, Arnell H, Sokal E, Dahan K, Childs S, Ling V, Tanner MS, Kagalwalla AF, Nemeth A, Pawlowska J, Baker A, Mieli-Vergani G, Freimer NB, Gardiner RM, Thompson RJ.
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| Nat Genet 20 : 233. 1998
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