ABCMdb

PMID: 25274209

Hayashi H
[Development of new therapeutic strategy for transporter-related diseases].
Yakugaku Zasshi. 2014;134(10):1007-11., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Glu297Gly ABCB11 p.Glu297Gly BSEP Expression on the Canalicular Membrane Is Decreased in Patients with PFIC25) 1008 Vol. 134 (2014) d3b;ឋf5c;ᵨఌa2;dd;c8;fc;b7;b9;fc3;⍈f5c;ᵨఔecb;௱ıf;d30;Pde;bd2;ឋ Ĳb;ఐĴa;,[cd;be4;Ĳa;̩d;a5f;Pfd;ωc;bb3;İc;f15;İd;d77;௭௯Ĵc;Ĵb;&#ff0e;ᱯĲb; [cd;be4;Ĳa;̩d;ᑁPc6;c41;௦௷ede;ఔᕈ௳Ĵb;Kbe;<a3;Ĳe;e00;f8b;௼௱௺, BSEP Ĳe;΋a;f1d;b50;᜕ᶒĲb;d77;8e0;௱௺˿a;Kc7;௳Ĵb;e0c;c11;`e3;cbb;ឋ Kbe;<a3;Ĳe; PFIC2 İc;Me5;఑Ĵc;௺௤Ĵb;&#ff0e; 3,4) PFIC2 Ĳb;bfe;௱௺ Ĳf;,Ife;Hb6;௻Ĳf;ᑁOd1;Ḅᷚcd5;İc;Nba;acb;௱௺İa;఑ıa;,̩d;Ofb;ʲd; ఔ5d7;௫Ĳa;௫Ĵc;௾,əd;᧡ʟf;Ȍd;Ĳb;Qf4;b7b;ឋĲe;d4c;Έe;ఔfbf;Ĵb;&#ff0e; ̩d;Ofb;ʲd;Ĳf;˯f;Ḽ௳Ĵb;İb;௽௦İb;İc;Nba;b9f;௻Ĳf;Ĳa;İf;ea;b9;af;İc; ad8;௤௭௼, ad8;Ϙd;Ĳa;ɰb;⊕cbb;İc;İb;İb;Ĵb;௭௼,௯఑Ĳb;Ȃd;Kab; ᢓᑴᒐఔe00;˯f;ʞd;ᵨ௱d9a;௫Ĳa;İf;௺Ĳf;Ĳa;఑Ĳa;௤௭௼Ĳa;௽ İb;఑,<a3;ὅĲb;ᾙf53;Ḅ,[d1;\ad;ḄĲb;ɏa;ᜧĲa;ca0;>c5;ఔf37;௤Ĵb; cbb;ᷚcd5;௻௢Ĵb;&#ff0e;௱ıf;İc;௷௺,PFIC2 Ĳb;bfe;௳Ĵb;ȕb;Uac; 6c1;Ĳe;ξb;˿a;İc;ᑗʟb;௯Ĵc;௺௤Ĵb;&#ff0e; ee5;e0a;Ĳe;Pcc;ʚf;İb;఑,b46;ὅĲf;,PFIC2 <a3;ὅĲe; 60%ee5; e0a;İc;fdd;8e0;௳Ĵb; 297 ˴a;Lee;Ĳe;b0;eb;bf;df;f3;⏚İc;b0;ea;b7;f3;Ĳb; ee3;Ĵf;Ĵb;᜕ᶒf53;(E297G) ,482 ˴a;Lee;Ĳe;a2;b9;d1;e9;ae;f3; ⏚İc;b0;ea;b7;f3;Ĳb;ee3;Ĵf;Ĵb;᜕ᶒf53;(D482G)Ĳe; 2 ௸Ĳe; d2;c8; BSEP ᜕ᶒf53;˿a;Ife;d30;Pde;ఔEcb;bc9;௱,a2e;஽Ĳe; in vitro b9f; a13;ఔb9f;Abd;௱ıf;&#ff0e; 5) ıd;Ĳe;d50;ʧc;,e21;᜕ᶒİc; BSEP Ĳe;e0d;b89;b9a;ᓄĲb;2cd;İd;,BSEP Ĳe;d30;Pde;̳c;˿a;Ife;[cf;ఔf4e;e0b;௯ ıb;௺௤Ĵb;௭௼ఔ΂b;௤3fa;௱ıf;(Fig. 1) &#ff0e;ıd;Ĳe;e00;Ab9;௻, e21; BSEP ᜕ᶒf53;ఔ˿a;Ife;௯ıb;ıf;d30;Pde;İb;఑d30;Pde;̳c;d9;b7; af; eb; ఔ abf; Xfd; ௱ , f38; 〈 b9f; a13; ఔ b9f; Abd; ௱ ıf; ௼ ௭ Ĵd; , E297G, D482G İc;ᓮf4d; BSEP [cf;f53;ıf;Ĵa;Ĳe;Pc6;c41;⏚f38;〈 d3b;ឋĲb;Ĳf;f71;aff;ఔe0e;௨Ĳa;௤௭௼İc;ʔe;఑İb;௼Ĳa;௷ıf;&#ff0e; E297G, D482G ᜕ᶒఔᢝ௸ PFIC2 <a3;ὅĲe;̩d;d44;e54; ఔᵨ௤ıf;Ȃd;Kab;d44;e54;Cd3;⁐cd5;௻Ĳf;,bdb;d30;Pc6;ba1;Ꮢ̳c;e0a;Ĳb;İa; ௫Ĵb; BSEP ˿a;Ife;[cf;İc;♿℉Ĳb;f4e;e0b;௱௺İa;Ĵa;, 4) Ĵf;Ĵc;Ĵf; Ĵc;Ĳe; in vitro Ye3;᪆d50;ʧc;௼̺f;ɕd;Ĳa;Lf8;_a2;İc;a8d;ఉ఑Ĵc;௺௤ Ĵb;&#ff0e;௱ıf;İc;௷௺,eca;f8c;Ǵb;஽Ĳe; PFIC2 <a3;ὅĲe;Kc5;ɦb;˿a; Kc7;a5f;Ecb;ఔe88;e2c;௳Ĵb;e0a;௻,b46;ὅĲe;b9f; a13;cfb;Ĳf;Ϗe;e38;Ĳb;ᨵᵨ Ĳa;c4;fc;eb;௼Ĳa;Ĵb;௭௼İc;ʟf;f85;௯Ĵc;Ĵb;&#ff0e; PFIC2 cbb;ᷚUac;Ĳe;?a2;d22; b46;ὅ఑Ĳf;,in vitro b9f; a13;İb;఑,PFIC2 <a3;ὅ௻Ĳf;ɏa; İf;Ĳe;ᛊᔠ,BSEP Ĳe;d30;Pde;̳c;˿a;Ife;[cf;İc;f4e;e0b;௳Ĵb;e00;Ab9; ௻,˿a;Ife;௱௺௤Ĵb; BSEP Ĳe;Pc6;c41;⏚f38;〈d3b;ឋĲf;fdd;ᢝ ௯Ĵc;௺௤Ĵb;௭௼İb;఑,BSEP Ĳe;d30;Pde;̳c;˿a;Ife;[cf;ఔᜉ4a0; ௯ıb;Ĵb;Ab9;cd5;ad6;Ĳe;ξb;˿a;İc;,PFIC2 Ĳe;ᑁOd1;Ḅᷚcd5;Ĳe;Nba; acb;Ĳb;௸Ĳa;İc;Ĵb;௼ὃ௨ıf;&#ff0e;ᱯĲb;,Qe8;e8a;fc3;ea6;௻ BSEP Ĳe;d30;Pde;̳c;˿a;Ife;[cf;ఔ ad8;ఉĴb;Uac;4b9;ఔᨵ௳Ĵb;Ae2;b58;ȕb;Uac;6c1;ఔ Ȝc;b9a;௳Ĵb;௭௼İc;௻İd;Ĵc;௾,d4c;e08;Ḅca0;>c5;,5ca;ఁξb;˿a;ea; b9;af;ఔefd;e1b;௱ıf; PFIC2 Ĳb;bfe;௳Ĵb;Ab0;Uac;ᒛXfd;İc;b9f;Ife;5ef; Pfd;௻௢Ĵb;௼ὃ௨,BSEP Ĳe;d30;Pde;̳c;˿a;Ife;[cf;Ĳe;᜕4d5;ఔc21; fbf;İb;௸Med;᧲╹௻a55;fa1;5ef;Pfd;Ĳa;Hec;Qea;Ĳe; in vitro b9f; a13;cfb;ఔ Ecb;bc9;௱,a2e;஽Ĳe;Ae2;b58;ȕb;Uac;6c1;ఔb9;af;ea;fc;cb;f3;b0;௱ıf;&#ff0e; ıd;Ĳe;d50;ʧc;,⋋ᦪĲe;χd;ឋᓄᔠᱥĲe;Ȝc;b9a;Ĳb;ᡂȑf;௱ıf; (Fig. 2) &#ff0e;௭Ĵc;఑Ĳe;χd;ឋᓄᔠᱥĲe;௦௵,d2;c8;Ĳb;d4c;5e3; ᢗe0e;௱ıf;f8c;,BSEP İc;˿a;Ife;௳Ĵb;̩d;Qd3;Ĳb;ᑖe03;௳Ĵb;௭௼ İc;ʔe;఑İb;௼Ĳa;௷௺௤ıf;c3f;d20;b5;a4;af;eb;ᶒe38;Kc7;(urea cycle disorder; UCD ) Ĳe; cbb; ᷚ Uac; ௻ ௢ Ĵb; 4-phenylbutyrate (4PB)Ĳb;ḼLee;௱,௯఑Ĳb;Ẇa76;ఔ⍈ఉĴb;௭ ௼௼௱ıf;&#ff0e; 6) UCD <a3;ὅĲb;bfe;௳Ĵb;Qe8;e8a;ᵨ[cf;Ĳe; 4PB ఔe9;c3;c8;Ĳb;d4c; 5e3;ᢗe0e;௱ıf;௼௭Ĵd;,̩d;bdb;d30;Pc6;ba1;Ꮢ̳c;Ĳb;İa;௫Ĵb; Bsep Ĳe;˿a;Ife;[cf;ᜉ4a0;,̩d;bdb;d30;Pc6;ba1;Ꮢ̳c;ఔecb;௱ıf;Pc6;c41;⏚f38;〈 Ĳe;ea2;⍈İc;Yb3;bdf;௯Ĵc;,4PB İc; in vivo ௻ఊȜc;Ed8;Ĳe;Uac;4b9; ఔ˿a;Ife;௳Ĵb;௭௼İc;Nba;a8d;௯Ĵc;ıf;&#ff0e; 6) ıd;௭௻,b21;Ĳb;d2;c8; ௻Ĳe;Uac;4b9;ఔNba;a8d;௳Ĵb;ıf;ఉ,Ƕb;ᳮ;d4;6e1;f1a;Ĳe;ɳf;a8d;Ĳe;e0b;, UCD <a3;ὅఔbfe;c61;௼௱ıf;ec;c8;ed;b9;da;af;c6;a3;d6;Ẇa76;ఔ b9f;Abd;௱ıf;&#ff0e;UCD <a3;ὅĲf;,Nba;b9a;a3a;Aad;f8c;,4PB Ĳe;ʞd;ᵨ ఔξb;;cb;௱,ᨬd42;ḄĲb;Ĳf;̩d;Ofb;ʲd;ఔ5d7;௫Ĵb;&#ff0e;Nba;b9a;a3a;Aad;Ĳe; Lee;Ḅ௻?a1;5d6;௯Ĵc;ıf;̩d;˯f;ʳc;b5;f3;d7;eb;5ca;ఁ,̩d;Ofb;ʲd;Ĳe;ωb; Ĳb;˯f;௲Ĵb;<a3;ὅĲe;᤺3fa;̩d;İb;఑̩d;c97;̳c;ᑖ˱b;ఔabf;Xfd;௱, BSEP ˿a;Ife;[cf;ఔa55;fa1;௱ıf;௼௭Ĵd;,᤺3fa;̩d;௻d04; 3 Ǵd;Ĳe; ᜉ4a0;İc;a8d;ఉ఑Ĵc;&#f;&#ff0e; 7) ĳe;ıf;,4PB Ĳe;ʞd;ᵨξb;;cb;f8c;Ĳb;⊈ 1009 Fig. 2. Login to comment