BSEP deficiency

同

bile salt export pump

PrepTutorEJDIC

1. 〈U〉〈C〉(…の)(量・額などの)不足,欠乏《+『of』(『in』)+『名』》 / 〈C〉不足分,不足量,不足額 / 〈C〉(精神・肉体などの)欠陥

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• 1. 抱合型高ビリルビン血症関連の遺伝性疾患 inherited disorders associated with conjugated hyperbilirubinemia
• 2. 薬と肝臓：薬物性肝障害のパターン drugs and the liver patterns of drug induced liver injury
• 3. 選択的IgE欠損症 selective ige deficiency
• 4. 選択的IgA欠損症：管理および予後 selective iga deficiency management and prognosis
• 5. 稀な（劣性遺伝性）凝固異常 rare recessively inherited coagulation disorders

English Journal

• AP2 adaptor complex mediates bile salt export pump internalization and modulates its hepatocanalicular expression and transport function.

• Hayashi H, Inamura K, Aida K, Naoi S, Horikawa R, Nagasaka H, Takatani T, Fukushima T, Hattori A, Yabuki T, Horii I, Sugiyama Y.SourceLaboratory of Molecular Pharmacokinetics, Graduate School of Pharmaceutical Sciences, The University of Tokyo, Tokyo, Japan. hayapi@mol.f.u-tokyo.ac.jp.
• Hepatology (Baltimore, Md.).Hepatology.2012 Jun;55(6):1889-900. doi: 10.1002/hep.25591.
• The bile salt export pump (BSEP) mediates the biliary excretion of bile salts and its dysfunction induces intrahepatic cholestasis. Reduced canalicular expression of BSEP resulting from the promotion of its internalization is one of the causes of this disease state. However, the molecular mechanism
• PMID 22262466

• Abcb11 Deficiency Induces Cholestasis Coupled to Impaired β-Fatty Acid Oxidation in Mice.

• Zhang Y, Li F, Patterson AD, Wang Y, Krausz KW, Neale G, Thomas S, Nachagari D, Vogel P, Vore M, Gonzalez FJ, Schuetz JD.SourceSt. Jude Children's Research Hospital, United States;
• The Journal of biological chemistry.J Biol Chem.2012 May 22. [Epub ahead of print]
• The bile salt export pump (BSEP) is an ATP-binding cassette transporter that serves as the primary system for removing bile salts from the liver. In humans, deficiency of BSEP, which is encoded by the ABCB11 gene, causes severe progressive cholestatic liver disease from early infancy. In previous st
• PMID 22619174

Japanese Journal

• LIVER, PANCREAS, AND BILIARY TRACT 進行性家族性肝内胆汁うっ滞症type2(BSEP欠損症):109家系における82のABCB11遺伝子変異

• 竹山 康章 [訳],向坂 彰太郎 [訳],Strautnieks Sandra s. [他]
• Review of gastroenterology & clinical gastroenterology and hepatology 3(3), 51-57, 2008-11
• NAID 40016346604

Related Links

• PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC)

Patients with FIC1 or BSEP deficiency have similar symptoms; together they are called low-GGT PFIC because of a ... Although patients with BSEP deficiency and patients with FIC1 deficiency are similar, there are differences between them.

• PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS (PFIC)

BSEP Deficiency. PFIC2 was initially described in children with a disease that resembled Byler disease, but could not be ascribed to defects in FIC1. Gene linkage and basic investigations of bile acid transport led to the discovery that PFIC2 ...

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★リンクテーブル★

関連記事	「deficiency」「BSE」「BS」「BSEP」

「deficiency」

　　[★]

• n.

• 不足、欠乏、欠失、欠如、欠損、不十分。栄養不足、栄養素欠乏、欠乏症。(遺伝子)(染色体内の)遺伝子欠失
• 欠けているもの、不足している物。不足分。不完全なもの、欠点のあるもの

関

absence, agenesis, dearth, defect, defective, deficient, deficit, delete, deletion, deletional, depletion, deprivation, deprive, lack, miss, missing, morphological defect, paucity, scarce, scarcity, starve

　

「BSE」

　　[★]

• ウシ海綿状脳症 bovine spongiform encephalopathy
• 乳房自己検査 breast self-examination

「BS」

　　[★]

• 呼吸音 breath sounds
• 血糖 blood sugar

「BSEP」

　　[★]

関

ATP-binding cassette transport- ers,ABCB1 1