The molecular basis of a familial apoE deficiency. An acceptor splice site mutation in the third intron of the deficient apoE gene.
Data up to Jan 2025
Total Citations Per Year
Abstract
References (53)
Molecular Cloning: A Laboratory Manual
2001 • 133,517 citations
Detection of specific sequences among DNA fragments separated by gel electrophoresis
1975 • 33,059 citations
Molecular Cloning. A Laboratory Manual
1983 • 27,328 citations
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
1979 • 22,482 citations
Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I
1977 • 12,015 citations
A new method for sequencing DNA.
1977 • 7,941 citations
The Metabolic Basis of Inherited Disease.
1988 • 7,933 citations
Organization and Expression of Eucaryotic Split Genes Coding for Proteins
1981 • 4,730 citations
A general method for isolation of high molecular weight DNA from eukaryotes
1976 • 2,827 citations
The Metabolic Basis of Inherited Disease
1979 • 2,083 citations
Fat Transport in Lipoproteins — An Integrated Approach to Mechanisms and Disorders
1967 • 1,945 citations
SUPERCOILED CIRCULAR DNA-PROTEIN COMPLEX IN Escherichia coli : PURIFICATION AND INDUCED CONVERSION TO AN OPEN CIRCULAR DNA FORM
1969 • 1,847 citations
[68] Transcription maps of polyoma virus-specific RNA: Analysis by two-dimensional nuclease S1 gel mapping
1980 • 1,430 citations
[18] Hybridization of denatured RNA transferred or dotted to nitrocellulose paper
1983 • 1,112 citations
Apolipoprotein E associated with astrocytic glia of the central nervous system and with nonmyelinating glia of the peripheral nervous system.
1985 • 786 citations
Human apolipoprotein E. The complete amino acid sequence.
1982 • 731 citations
Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man
1977 • 654 citations
Human very low density lipoprotein apolipoprotein E isoprotein polymorphism is explained by genetic variation and posttranslational modification
1981 • 568 citations
Expression of apolipoprotein E during nerve degeneration and regeneration.
1986 • 563 citations
THE MUTATION AND POLYMORPHISM OF THE HUMAN β-GLOBIN GENE AND ITS SURROUNDING DNA
1984 • 404 citations
Lipoprotein binding to canine hepatic membranes. Metabolically distinct apo-E and apo-B,E receptors.
1981 • 391 citations
Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene.
1985 • 352 citations
Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects.
1982 • 349 citations
Familial dysbetalipoproteinemia. Abnormal binding of mutant apoprotein E to low density lipoprotein receptors of human fibroblasts and membranes from liver and adrenal of rats, rabbits, and cows.
1981 • 316 citations
Familial apolipoprotein E deficiency.
1986 • 300 citations
Nucleotide sequence and structure of the human apolipoprotein E gene.
1985 • 289 citations
Helper-independent transformation by unintegrated Harvey sarcoma virus DNA
1978 • 277 citations
Type III Hyperlipoproteinemia Associated with Apolipoprotein E Deficiency
1981 • 272 citations
PSEUDOMEMBRANOUS COLITIS ASSOCIATED WITH CLINDAMYCIN
1974 • 270 citations
The mouse metallothionein-I gene is transcriptionally regulated by cadmium following transfection into human or mouse cells
1982 • 265 citations
Rate and equilibrium constants for binding of apo-E HDL c (a cholesterol-induced lipoprotein) and low density lipoproteins to human fibroblasts: Evidence for multiple receptor binding of apo-E HDL c
1979 • 215 citations
Distribution of apolipoprotein A-I, C-II, C-III, and E mRNA in fetal human tissues. Time-dependent induction of apolipoprotein E mRNA by cultures of human monocyte-macrophages
1985 • 200 citations
beta-Thalassemia in American Blacks: novel mutations in the "TATA" box and an acceptor splice site.
1984 • 197 citations
Synthesis, intracellular processing, and signal peptide of human apolipoprotein E.
1984 • 188 citations
Radioimmunoassay of human arginine-rich apolipoprotein, apoprotein E. Concentration in blood plasma and lipoproteins as affected by apoprotein E-3 deficiency.
1980 • 188 citations
Type III Hyperlipoproteinemia: Defective Metabolism of an Abnormal Apolipoprotein E
1981 • 183 citations
Normalization of receptor binding of apolipoprotein E2. Evidence for modulation of the binding site conformation.
1984 • 178 citations
Studies of familial type III hyperlipoproteinemia using as a genetic marker the apoE phenotype E2/2
1982 • 177 citations
Regulation of a metallothionein-growth hormone hybrid gene in bovine papilloma virus.
1983 • 168 citations
Hepatic apo-A-I and apo-E and intestinal apo-A-I are synthesized in precursor isoprotein forms by organ cultures of human fetal tissues.
1982 • 164 citations
Quantitation of apolipoprotein E mRNA in the liver and peripheral tissues of nonhuman primates.
1985 • 147 citations
Identification of a new structural variant of human apolipoprotein E, E2(Lys146 leads to Gln), in a type III hyperlipoproteinemic subject with the E3/2 phenotype.
1983 • 146 citations
Abnormal lipid composition of very low density lipoproteins in diagnosis of broad-beta disease (Type III hyperlipoproteinemia)
1972 • 136 citations
Immunoregulatory plasma lipoproteins. Role of apoprotein E and apoprotein B.
1980 • 126 citations
DNA sequence of the early E3 transcription unit of adenovirus 5
1985 • 116 citations
Apoprotein E suppresses phytohemagglutinin-activated phospholipid turnover in peripheral blood mononuclear cells.
1982 • 107 citations
TYPE-III HYPERLIPOPROTEINÆMIA ("REMNANT REMOVAL DISEASE")
1977 • 85 citations
Parent-offspring and sibling lipid and lipoprotein associations during and after sharing of household environments: The Princeton School District Family Study
1982 • 67 citations
[49] Genetic polymorphism in human apolipoprotein E
1986 • 59 citations
Broad-β Disease (Type III Hyperlipoproteinemia) in a Large Kindred
1975 • 49 citations
mRNA and apolipoprotein E synthesis abnormalities in peripheral blood monocyte macrophages in familial apolipoprotein E deficiency.
1985 • 21 citations
Expression of Cloned Growth Hormone and Metallothionein Genes in Heterologous Cells
1983 • 16 citations
[40] Intra- and extracellular modifications of apolipoproteins
1986 • 14 citations