Search results for " cholesterol ester"

showing 2 items of 2 documents

Novel mutations of CETP gene in Italian subjects with hyeralphalipoproteinemia

2009

Abstract Cholesteryl ester transfer protein (CETP) is a plasma glycoprotein that catalyses the transfer of cholesteryl esters from HDL to the other plasma lipoproteins. Genetic deficiency of CETP is one of the known causes of elevation of plasma HDL-C (primary hyperalphalipoproteinemia, HALP). We sequenced CETP gene in a group of 24 Italian subjects with primary HALP (HDL-C>80 mg/dl) suspected to have CETP deficiency. Two unrelated subjects both coming from the same geographical district, were found to be heterozygous for a nucleotide substitution in exon 6 (c.544C>T) and another subject was found to be heterozygous for a C>T transition in exon 9 (c.802C>T). Both mutations introduce a prema…

MaleHyperlipoproteinemiasMessengerDNA Mutational Analysismedicine.disease_causeExonFamilial hyperalphalipoproteinemiaChlorocebus aethiopsCETP activity; CETP gene mutations; Familial hyperalphalipoproteinemia; HDL size; Adolescent; Adult; Aged; Animals; Biomarkers; COS Cells; Cercopithecus aethiops; Cholesterol Ester Transfer Proteins; Cholesterol HDL; DNA Mutational Analysis; European Continental Ancestry Group; Female; Humans; Hyperlipoproteinemias; Italy; Male; Middle Aged; Phenotype; RNA Messenger; Transfection; Up-Regulation; Young Adult; Mutation; Cardiology and Cardiovascular MedicineGeneticsMutationTransition (genetics)biologyCETP activityMiddle AgedUp-RegulationCholesterolPhenotypeItalyCOS CellsRNA splicingFemaleFamilial hyperalphalipoproteinemia; CETP gene mutations; CETP activity; HDL sizelipids (amino acids peptides and proteins)Cardiology and Cardiovascular MedicineAdultHDLAdolescentEuropean Continental Ancestry GroupSocio-culturaleHDL sizeTransfectionWhite PeopleCercopithecus aethiopsYoung AdultCETP gene mutationsCholesterylester transfer proteinmedicineAnimalsHumansRNA MessengerGeneAgedCholesterol HDLIntroncetpCholesterol Ester Transfer Proteinscarbohydrates (lipids)biology.proteinRNAmutationBiomarkersMinigene
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Metabolic signatures across the full spectrum of non-alcoholic fatty liver disease.

2022

Funder: European Commission

ALTtype 2 diabetes mellitusROC receiving operator characteristicaspartate aminotransferaseHSDLDL low-density lipoproteinUHPLC ultrahigh-performance liquid chromatographyROCHCCNon-alcoholic steatohepatitisGCPCANASHGastroenterology2-HB 2-hydroxybutanoic acid; 3-HB 3-hydroxybutanoic acid; ALT alanine aminotransferase; AST aspartate aminotransferase; CE cholesterol ester; Cer ceramide; FFA free fatty acid; FLIP Fatty Liver Inhibition of Progression; Fibrosis; GC gas chromatography; HCC hepatocellular carcinoma; HSD honest significant difference; LC lipid cluster; LDL low-density lipoprotein; LM lipid and metabolite; LMC lipid metabolite and clinical variable; LPC lysophosphatidylcholine; Lipidomics; Mass spectrometry; Metabolomics; NAFL non-alcoholic fatty liver; NAFLD non-alcoholic fatty liver disease; NAS NASH activity score; NASH non-alcoholic steatohepatitis; NIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research Network; NRR non-rejection rate; Non-alcoholic steatohepatitis; PC(O) ether PC; PC phosphatidylcholine; PCA principal component analysis; PE phosphatidylethanolamine; QTOFMS quadrupole-time-of-flight mass spectrometry; ROC receiving operator characteristic; SAF steatosis activity and fibrosis; SM sphingomyelin; T2DM type 2 diabetes mellitus; TG triacylglycerol; UHPLC ultrahigh-performance liquid chromatographySAFSAF steatosis activity and fibrosisLM lipid and metabolitehonest significant differenceHSD honest significant differenceTG triacylglycerolnon-rejection ratecholesterol esterPCPEGC gas chromatographyfree fatty acidFLIPNASH non-alcoholic steatohepatitisNIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research NetworkBIOMARKERST2DMPE phosphatidylethanolamineLDLlipidNAFLDFFA free fatty acid2-HBMetabolomicsNAFL non-alcoholic fatty liverLMCphosphatidylcholineScience & TechnologySM sphingomyelinGastroenterology & HepatologyMass spectrometryactivitynutritional and metabolic diseasesT2DM type 2 diabetes mellitusACIDSreceiving operator characteristicdigestive system diseasesquadrupole-time-of-flight mass spectrometryLC lipid clusterlow-density lipoproteinNAS2-HB 2-hydroxybutanoic acidNAS NASH activity scoreQTOFMSether PCNRRSCORING SYSTEMprincipal component analysisgas chromatographyLC2-hydroxybutanoic acidPROGRESSIONAST aspartate aminotransferaseLMPC phosphatidylcholinePC(O)MARKERSUHPLCsteatosisTOOLImmunology and AllergyINSULIN-RESISTANCECerSMFatty Liver Inhibition of Progressionhepatocellular carcinoma2-HB 2-hydroxybutanoic acid NIDDK NASH-CRN National Institute of Digestive Diseases and Kidney NASH Clinical Research Network NRR non-rejection rate Non-alcoholic steatohepatitis PC(O) ether PC PC phosphatidylcholine PCA principal component analysis PE phosphatidylethanolamine QTOFMS quadrupole-time-of-flight mass spectrometry ROC receiving operator characteristic SAF steatosis activity and fibrosis SM T2DM type 2 diabetes mellitus TG triacylglycerol UHPLC ultrahigh-performance liquid chromatographyultrahigh-performance liquid chromatographyCELPC3-HBNAFLnon-alcoholic fatty liverTGtriacylglycerolNRR non-rejection rateLife Sciences & BiomedicineNAFLD non-alcoholic fatty liver diseaseFLIP Fatty Liver Inhibition of Progressionalanine aminotransferasemetaboliteCer ceramideCE cholesterol estersphingomyelinlysophosphatidylcholineand fibrosisALT alanine aminotransferaseInternal MedicineceramideNational Institute of Digestive Diseases and Kidney NASH Clinical Research NetworkAST3-HB 3-hydroxybutanoic acidQTOFMS quadrupole-time-of-flight mass spectrometryPCA principal component analysisLPC lysophosphatidylcholineHepatologynon-alcoholic fatty liver diseaseand clinical variablePC(O) ether PC3-hydroxybutanoic acidFibrosisNASH activity scoreNIDDK NASH-CRNlipid clusterlipid and metabolitephosphatidylethanolamineLipidomicsLMC lipid metabolite and clinical variableFFAHCC hepatocellular carcinomaJHEP reports : innovation in hepatology
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