A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
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Progressive familial intrahepatic cholestasisThe Tangier disease gene product ABC1 controls the cellular apolipoprotein-mediated lipid removal pathwayABC-me: a novel mitochondrial transporter induced by GATA-1 during erythroid differentiationMolecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4Estrogen and Estrogen Receptor-α-Mediated Transrepression of Bile Salt Export PumpCloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticumExpression of liver plasma membrane transporters in gallstone-susceptible and gallstone-resistant miceTransport of bile acids in multidrug-resistance-protein 3-overexpressing cells co-transfected with the ileal Na+-dependent bile-acid transporterRab11a and myosin Vb are required for bile canalicular formation in WIF-B9 cellsLocalization of a recessive gene for North American Indian childhood cirrhosis to chromosome region 16q22-and identification of a shared haplotypePolymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variabilityA missense mutation (R565W) in cirhin (FLJ14728) in North American Indian childhood cirrhosisNuclear factor erythroid 2-related factor 2 is a positive regulator of human bile salt export pump expressionGenetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, ChinaBile acid transporters in health and diseaseBile acid transportersThe molecular genetics of familial intrahepatic cholestasisEvolutionary conservation predicts function of variants of the human organic cation transporter, OCT1ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transportP4-ATPases as Phospholipid Flippases-Structure, Function, and EnigmasThe role of transporters in toxicity and diseaseBile acid metabolism and signalingFXR signaling in the enterohepatic systemNuclear Receptors as Therapeutic Targets in Liver Disease: Are We There Yet?Drug transporters in tissues and cells relevant to sexual transmission of HIV: Implications for drug deliveryThe bile acid taurochenodeoxycholate activates a phosphatidylinositol 3-kinase-dependent survival signaling cascadeThe farnesoid X receptor controls gene expression in a ligand- and promoter-selective fashionRetinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt diseaseBile acids and progesterone metabolites in intrahepatic cholestasis of pregnancyAsynchronous expression and colocalization of Bsep and Mrp2 during development of rat liverThe amino acid residues asparagine 354 and isoleucine 372 of human farnesoid X receptor confer the receptor with high sensitivity to chenodeoxycholateKey discoveries in bile acid chemistry and biology and their clinical applications: history of the last eight decadesMissense mutations and single nucleotide polymorphisms in ABCB11 impair bile salt export pump processing and function or disrupt pre-messenger RNA splicingNF-kappaB is activated in cholestasis and functions to reduce liver injuryX-linked cholestasis in mouse due to mutations of the P4-ATPase ATP11CFXR regulates liver repair after CCl4-induced toxic injuryGenetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian CenterIdentification of HAX-1 as a protein that binds bile salt export protein and regulates its abundance in the apical membrane of Madin-Darby canine kidney cellsThe role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II
P2860
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P2860
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis
description
1998 nî lūn-bûn
@nan
1998 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@ast
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en-gb
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@nl
type
label
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@ast
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en-gb
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@nl
prefLabel
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@ast
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en-gb
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@nl
P2093
P50
P3181
P356
P1433
P1476
A gene encoding a liver-specif ...... ilial intrahepatic cholestasis
@en
P2093
A F Kagalwalla
A S Knisely
G Mieli-Vergani
M S Tanner
N B Freimer
P2888
P304
P3181
P356
10.1038/3034
P407
P577
1998-11-01T00:00:00Z
P6179
1033948980