Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
about
Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolismHypercholesterolemia in low density lipoprotein receptor knockout mice and its reversal by adenovirus-mediated gene deliveryAccumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.A cholesterol-lowering gene maps to chromosome 13q.Relationship between apolipoprotein(a) phenotype, lipoprotein(a) concentration in plasma, and low density lipoprotein receptor function in a large kindred with familial hypercholesterolemia due to the pro664----leu mutation in the LDL receptor gene.Common low-density lipoprotein receptor mutations in the French Canadian populationGenetics of human cardiovascular diseaseA fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.Sequence diversity in genes of lipid metabolismLRP6 protein regulates low density lipoprotein (LDL) receptor-mediated LDL uptake.Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders.The gender-specific apolipoprotein E genotype influence on the distribution of plasma lipids and apolipoproteins in the population of Rochester, MN. III. Correlations and covariancesLRP6 enhances glucose metabolism by promoting TCF7L2-dependent insulin receptor expression and IGF receptor stabilization in humans.Hunting human disease genes: lessons from the past, challenges for the future.Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.Software and database for the analysis of mutations in the human LDL receptor gene.Formation of a TBX20-CASZ1 protein complex is protective against dilated cardiomyopathy and critical for cardiac homeostasis.Dissecting the genetic contribution to coronary heart disease.Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.Emerging Role of Precision Medicine in Cardiovascular Disease.Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.Molecular Genetics of Familial Hypercholesterolaemia: Common and Rare Mutations of the Low Density Lipoprotein Receptor Gene
P2860
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P2860
Evidence for a dominant gene that suppresses hypercholesterolemia in a family with defective low density lipoprotein receptors
description
1989 nî lūn-bûn
@nan
1989 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1989 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1989年の論文
@ja
1989年論文
@yue
1989年論文
@zh-hant
1989年論文
@zh-hk
1989年論文
@zh-mo
1989年論文
@zh-tw
1989年论文
@wuu
name
Evidence for a dominant gene t ...... density lipoprotein receptors
@ast
Evidence for a dominant gene t ...... density lipoprotein receptors
@en
type
label
Evidence for a dominant gene t ...... density lipoprotein receptors
@ast
Evidence for a dominant gene t ...... density lipoprotein receptors
@en
prefLabel
Evidence for a dominant gene t ...... density lipoprotein receptors
@ast
Evidence for a dominant gene t ...... density lipoprotein receptors
@en
P2093
P2860
P356
P1476
Evidence for a dominant gene t ...... density lipoprotein receptors
@en
P2093
C C Leffert
E Leitersdorf
J L Goldstein
P2860
P304
P356
10.1172/JCI114212
P407
P577
1989-08-01T00:00:00Z