Molecular diagnosis of hypobetalipoproteinemia: an ENID review
about
Molecular and functional analysis of two new MTTP gene mutations in an atypical case of abetalipoproteinemiaMolecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP geneMechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease riskAn automated microfluidic system for single-stranded DNA preparation and magnetic bead-based microarray analysis.Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol-diabetes connection? A systematic review of literature.Hepatitis C virus and metabolic disorder interactions towards liver damage and atherosclerosis.Current status and agenda in the diagnosis of nonalcoholic steatohepatitis in JapanExpression of microsomal triglyceride transfer protein in lipoprotein-synthesizing tissues of the developing chicken embryoNonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein BEffect of apolipoprotein-B synthesis inhibition on liver triglyceride content in patients with familial hypercholesterolemia.Recent progress in understanding protein and lipid factors affecting hepatic VLDL assembly and secretion.Saturation of the human phenomeCdx2 levels modulate intestinal epithelium maturity and Paneth cell development.Hepatocyte nuclear factor-4 alpha regulates liver triglyceride metabolism in part through secreted phospholipase A₂ GXIIB.Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial HypobetalipoproteinemiaNovel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitisRole of the gut in lipid homeostasisLipoprotein metabolism in nonalcoholic fatty liver diseaseMipomersen, an apolipoprotein B synthesis inhibitor, lowers low-density lipoprotein cholesterol in high-risk statin-intolerant patients: a randomized, double-blind, placebo-controlled trial.A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia.Therapeutic expression of hairpins targeting apolipoprotein B100 induces phenotypic and transcriptome changes in murine liver.Evidence-based goals in LDL-C reduction.Pharmacological strategies for lowering LDL cholesterol: statins and beyond.Primary immunodeficiency associated with defects in CD1 and CD1-restricted T cells.Efficacy and safety of mipomersen sodium (Kynamro).Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.Beyond statins: new lipid lowering strategies to reduce cardiovascular risk.Insights from human congenital disorders of intestinal lipid metabolism.Exon skipping of hepatic APOB pre-mRNA with splice-switching oligonucleotides reduces LDL cholesterol in vivo.Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants.Apolipoprotein B knockdown by AAV-delivered shRNA lowers plasma cholesterol in mice.Hepatic steatosis does not cause insulin resistance in people with familial hypobetalipoproteinaemia.MG132, a proteasome inhibitor, enhances LDL uptake in HepG2 cells in vitro by regulating LDLR and PCSK9 expression.ANGPLT3: A novel modulator of lipid metabolism.Clinical Implications of Lipid Genetics for Cardiovascular Disease.Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levelsMajor role of apolipoprotein B in cycloheximide-induced acute hepatic steatosis in mice.Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk
P2860
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P2860
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
description
2007 nî lūn-bûn
@nan
2007 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@ast
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@en
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@nl
type
label
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@ast
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@en
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@nl
prefLabel
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@ast
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@en
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@nl
P2093
P50
P1433
P1476
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
@en
P2093
Angelo B Cefalù
Enza Di Leo
Lucia Magnolo
Luigi Cattin
Sebastiano Calandra
Stefano Bertolini
P304
P356
10.1016/J.ATHEROSCLEROSIS.2007.05.003
P407
P577
2007-06-14T00:00:00Z