A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities
about
Functional lecithin:cholesterol acyltransferase deficiency and high density lipoprotein deficiency in transgenic mice overexpressing human apolipoprotein A-IIA plasma lipoprotein containing only apolipoprotein E and with gamma mobility on electrophoresis releases cholesterol from cellsA molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activityTwo different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123----Ile) and lecithin-cholesterol acyltransferase (Thr347----Met)Apolipoprotein C-III(Lys58----Glu). Identification of an apolipoprotein C-III variant in a family with hyperalphalipoproteinemiaStructural Insights into High Density Lipoprotein: Old Models and New FactsDiagnosis and treatment of high density lipoprotein deficiencyThe genetic defect of the original Norwegian lecithin:cholesterol acyltransferase deficiency familiesCharacterization of apolipoprotein A-I- and A-II-containing lipoproteins in a new case of high density lipoprotein deficiency resembling Tangier disease and their effects on intracellular cholesterol efflux.Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease.High density lipoprotein deficiency with xanthomas. A defect in reverse cholesterol transport caused by a point mutation in the apolipoprotein A-I gene.Apolipoprotein A-I Q[-2]X causing isolated apolipoprotein A-I deficiency in a family with analphalipoproteinemia.Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23.Mapping the eye diseases.Human apolipoprotein A-I gene expression increases high density lipoprotein and suppresses atherosclerosis in the apolipoprotein E-deficient mouse.Lecithin:cholesterol acyltransferase: old friend or foe in atherosclerosis?Apolipoprotein A-I modulates processes associated with diet-induced nonalcoholic fatty liver disease in miceA physiologically based in silico kinetic model predicting plasma cholesterol concentrations in humansCarboxyl-terminal domain truncation alters apolipoprotein A-I in vivo catabolism.Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterol acyltransferase-deficient mice.Characterization of high density lipoprotein particles in familial apolipoprotein A-I deficiency.Chicken lecithin-cholesterol acyltransferase. Molecular characterization reveals unusual structure and expression pattern.
P2860
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P2860
A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities
description
1991 nî lūn-bûn
@nan
1991 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1991 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1991年の論文
@ja
1991年論文
@yue
1991年論文
@zh-hant
1991年論文
@zh-hk
1991年論文
@zh-mo
1991年論文
@zh-tw
1991年论文
@wuu
name
A frameshift mutation in the h ...... iciency, and corneal opacities
@ast
A frameshift mutation in the h ...... iciency, and corneal opacities
@en
type
label
A frameshift mutation in the h ...... iciency, and corneal opacities
@ast
A frameshift mutation in the h ...... iciency, and corneal opacities
@en
prefLabel
A frameshift mutation in the h ...... iciency, and corneal opacities
@ast
A frameshift mutation in the h ...... iciency, and corneal opacities
@en
P2093
P2860
P356
P1476
A frameshift mutation in the h ...... iciency, and corneal opacities
@en
P2093
A von Eckardstein
J J Albers
P H Pritchard
P2860
P304
P356
10.1172/JCI114997
P407
P577
1991-01-01T00:00:00Z