The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
about
Medium- and short-chain dehydrogenase/reductase gene and protein families : the SDR superfamily: functional and structural diversity within a family of metabolic and regulatory enzymesBile acid metabolism and signalingSREBP cleavage-activating protein (SCAP) is required for increased lipid synthesis in liver induced by cholesterol deprivation and insulin elevationOxysterol gradient generation by lymphoid stromal cells guides activated B cell movement during humoral responsesGenomic and neural analysis of the estradiol-synthetic pathway in the zebra finch.Genetic, anatomic, and clinical determinants of human serum sterol and vitamin D levelsIdentification of bile acid precursors as endogenous ligands for the nuclear xenobiotic pregnane X receptor.Mechanisms of liver injury relevant to pediatric hepatology.Human cholesterol 7alpha-hydroxylase (CYP7A1) deficiency has a hypercholesterolemic phenotype.CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.Bile acid regulation of hepatic physiology: III. Regulation of bile acid synthesis: past progress and future challenges.Genetics of familial intrahepatic cholestasis syndromes.Mutations in SRD5B1 (AKR1D1), the gene encoding delta(4)-3-oxosteroid 5beta-reductase, in hepatitis and liver failure in infancy.Analysis of HSD3B7 knockout mice reveals that a 3alpha-hydroxyl stereochemistry is required for bile acid functionUtilization of metabolomics to identify serum biomarkers for hepatocellular carcinoma in patients with liver cirrhosisHomozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.Mechanisms of disease: Inborn errors of bile acid synthesis.Bile Acid sulfation: a pathway of bile acid elimination and detoxification.Disorders of bile acid synthesis.Two-peaked synchronization in day/night expression rhythms of the fibrinogen gene cluster in the mouse liver.Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.Atypical clinical presentation and successful treatment with oral cholic acid of a child with defective bile acid synthesis due to a novel mutation in the HSD3B7 geneMolecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann-Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiencGenetic profiling of children with advanced cholestatic liver disease.7alpha-hydroxycholesterol is oxidized and isomerized to 4-cholesten-7alpha-ol-3-oneCholest-5-ene-3beta;7alpha;24(S)-triol is oxidized and isomerized to 4-cholesten-7alpha;24(S)-diol-3-oneCholest-5-ene-3beta;7alpha;27-triol is oxidized and isomerized to 4-cholesten-7alpha;27-diol-3-one
P2860
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P2860
The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis
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2000 nî lūn-bûn
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2000 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի նոյեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@ast
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@en
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@nl
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label
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@ast
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@en
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@nl
prefLabel
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@ast
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@en
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@nl
P2093
P2860
P921
P356
P1476
The bile acid synthetic gene 3 ...... ssive intrahepatic cholestasis
@en
P2093
P2860
P304
P356
10.1172/JCI10902
P407
P577
2000-11-01T00:00:00Z