Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking - Wikidata - awgldk - TriplyDB

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

http://www.wikidata.org/entity/Q28142016

about

Progressive familial intrahepatic cholestasis Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4 Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction Liver diseases in pregnancy: diseases unique to pregnancy Low phospholipid associated cholelithiasis: association with mutation in the MDR3/ABCB4 gene.Obstetric cholestasis Functional Rescue of Trafficking-Impaired ABCB4 Mutants by Chemical Chaperones Identification 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 cells Bezafibrate stimulates canalicular localization of NBD-labeled PC in HepG2 cells by PPARalpha-mediated redistribution of ABCB4.Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.Myosin II regulatory light chain is required for trafficking of bile salt export protein to the apical membrane in Madin-Darby canine kidney cells.Progressive familial intrahepatic cholestasis.Bile formation and secretion.Inhibition of Na+-taurocholate Co-transporting polypeptide-mediated bile acid transport by cholestatic sulfated progesterone metabolites.Mechanisms of liver injury relevant to pediatric hepatology.Genetics of familial intrahepatic cholestasis syndromes.Genetic evidence of heterogeneity in intrahepatic cholestasis of pregnancy ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.Antidepressant induced cholestasis: hepatocellular redistribution of multidrug resistant protein (MRP2).Intrahepatic cholestasis of pregnancy: the severe form is associated with common variants of the hepatobiliary phospholipid transporter ABCB4 gene.First description of ABCB4 gene deletions in familial low phospholipid-associated cholelithiasis and oral contraceptives-induced cholestasis.Nuclear receptor variants in liver disease.Approach to a patient with elevated serum alkaline phosphatase.Active transport across the human placenta: impact on drug efficacy and toxicity.Intrahepatic cholestasis of pregnancy levels of sulfated progesterone metabolites inhibit farnesoid X receptor resulting in a cholestatic phenotype Increased frequency of double and triple heterozygous gene variants in children with intrahepatic cholestasis.The multidrug resistance pump ABCB1 is a substrate for the ubiquitin ligase NEDD4-1 Maternal cholestasis during pregnancy programs metabolic disease in offspring.Immunological basis in the pathogenesis of intrahepatic cholestasis of pregnancy.Intrahepatic cholestasis and eclampsia: a case report.Hepatic bile acids and bile acid-related gene expression in pregnant and lactating rats.The molecular genetics of intrahepatic cholestasis of pregnancy.Tissue distribution, gender-divergent expression, ontogeny, and chemical induction of multidrug resistance transporter genes (Mdr1a, Mdr1b, Mdr2) in mice The role of FXR in disorders of bile acid homeostasis.Engineered fibroblast growth factor 19 reduces liver injury and resolves sclerosing cholangitis in Mdr2-deficient mice.A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy.Drug-induced liver injury: insights from genetic studies.Inflammatory pseudo-tumor of the liver: a rare pathological entity Genetic variations of bile salt transporters as predisposing factors for drug-induced cholestasis, intrahepatic cholestasis of pregnancy and therapeutic response of viral hepatitis.

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P2860

Heterozygous MDR3 missense mutation associated with intrahepatic cholestasis of pregnancy: evidence for a defect in protein trafficking

http://www.wikidata.org/entity/Q28142016

description

2000 nî lūn-bûn

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2000 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2000 թվականի մայիսին հրատարակված գիտական հոդված

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2000年の論文

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2000年論文

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2000年論文

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2000年論文

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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Human Molecular Genetics

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Heterozygous MDR3 missense mut ...... defect in protein trafficking

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C F Higgins

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1209-17

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10.1093/HMG/9.8.1209

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intrahepatic cholestasis of pregnancy