Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers (Q34185850)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8083367%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Variable expression of familial dysbetalipoproteinemia in apolipoprotein E*2 (Lys146-->Gln) Allele carriers (English)

1 reference

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familial dysbetalipoproteinemia

24 October 2019

main subject

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1

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3

Boomsma DI

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24 October 2019

van den Maagdenberg AM

2

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Stalenhoef AF

4

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Smelt AH

5

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24 October 2019

Kastelein JJ

6

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24 October 2019

Marais AD

7

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24 October 2019

Frants RR

8

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Havekes LM

9

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24 October 2019

language of work or name

English

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publication date

1 September 1994

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Journal of Clinical Investigation

24 October 2019

published in

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24 October 2019

volume

94

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24 October 2019

issue

3

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24 October 2019

page(s)

1252-1262

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Preferential association of apolipoprotein E Leiden with very low density lipoproteins of human plasma

24 October 2019

cites work

1 reference

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Human apolipoprotein E isoprotein subclasses are genetically determined

5 July 2018

1 reference

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Isoprotein specificity in the hepatic uptake of apolipoprotein E and the pathogenesis of familial dysbetalipoproteinemia

5 July 2018

1 reference

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Atypical familial dysbetalipoproteinemia associated with apolipoprotein phenotype E3/3.

5 July 2018

1 reference

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Type III hyperlipoproteinemia: recent insights into the genetic defect of familial dysbetalipoproteinemia

5 July 2018

1 reference

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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

5 July 2018

1 reference

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Structural basis for receptor binding heterogeneity of apolipoprotein E from type III hyperlipoproteinemic subjects

5 July 2018

1 reference

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Metabolism of apolipoproteins B-48 and B-100 of triglyceride-rich lipoproteins in patients with familial dysbetalipoproteinemia

5 July 2018

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

5 July 2018

1 reference

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Genotyping and sequence analysis of apolipoprotein E isoforms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Apolipoprotein E2-Christchurch (136 Arg----Ser). New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia

5 July 2018

1 reference

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Nucleotide sequence and structure of the human apolipoprotein E gene

5 July 2018

1 reference

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Exact localization of the familial dysbetalipoproteinemia associated HpaI restriction site in the promoter region of the APOC1 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia

5 July 2018

1 reference

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Human apolipoprotein CI (apoC1) gene locus: DraI dimorphic site

5 July 2018

1 reference

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Site-specific mutagenesis of human apolipoprotein E. Receptor binding activity of variants with single amino acid substitutions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Apolipoprotein E3-Leiden contains a seven-amino acid insertion that is a tandem repeat of residues 121-127.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Human apolipoprotein E. Receptor binding activity of truncated variants with carboxyl-terminal deletions

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Human ApoCI HpaI restriction site polymorphism revealed by the polymerase chain reaction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Familial dysbetalipoproteinemia associated with apolipoprotein E3-Leiden in an extended multigeneration pedigree

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

The functional characteristics of a human apolipoprotein E variant (cysteine at residue 142) may explain its association with dominant expression of type III hyperlipoproteinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Apolipoprotein E1 Lys-146----Glu with type III hyperlipoproteinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Heterozygosity for apolipoprotein E-4Philadelphia(Glu13----Lys, Arg145----Cys) is associated with incomplete dominance of type III hyperlipoproteinemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Extensions to pedigree analysis. III. Variance components by the scoring method

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

A descriptive study of the different electrophoretic patterns on agarose of human serum very-low-density lipoproteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Polymorphism of apolipoprotein E and occurrence of dysbetalipoproteinaemia in man

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295210

Cholesterol determination in high-density lipoproteins separated by three different methods

5 July 2018

1 reference

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Familial hyperlipoproteinemia type III: Deficiency of a specific apolipoprotein (APO E-III) in the very-low-density lipoproteins

5 July 2018

1 reference

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Apolipoprotein E-4Philadelphia (Glu13—-Lys,Arg145—-Cys). Homozygosity for two rare point mutations in the apolipoprotein E gene combined with severe type III hyperlipoproteinemia

5 July 2018

1 reference

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Human E apoprotein heterogeneity. Cysteine-arginine interchanges in the amino acid sequence of the apo-E isoforms

28 October 2018

1 reference

12 December 2020

Human apolipoprotein E. The complete amino acid sequence

1 reference

12 December 2020

The receptor-binding domain of human apolipoprotein E. Binding of apolipoprotein E fragments

1 reference

12 December 2020

The receptor-binding domain of human apolipoprotein E. Monoclonal antibody inhibition of binding

1 reference

12 December 2020

Functionally inactive apolipoprotein E3 in a type III hyperlipoproteinaemic patient

1 reference

12 December 2020

Apolipoprotein E3-Leiden. A new variant of human apolipoprotein E associated with familial type III hyperlipoproteinemia

1 reference

12 December 2020

Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue

1 reference

12 December 2020

Programs for pedigree analysis: Mendel, Fisher, and dGene

1 reference

12 December 2020

Apolipoprotein E-1Harrisburg: a new variant of apolipoprotein E dominantly associated with type III hyperlipoproteinemia

1 reference

12 December 2020

Apolipoprotein E*3-Leiden allele results from a partial gene duplication in exon 4

1 reference

12 December 2020

Genetic heterogeneity in familial dysbetalipoproteinemia. The E2(lys146----gln) variant results in a dominant mode of inheritance

1 reference

12 December 2020

Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI

1 reference

12 December 2020

DNA polymorphism and linkage disequilibrium within the apolipoprotein CII locus on human chromosome 19

1 reference

12 December 2020

Allele frequency distribution of the (TG)n(AG)m microsatellite in the apolipoprotein C-II gene

1 reference

12 December 2020

Rapid hepatic clearance of the canine lipoproteins containing only the E apoprotein by a high affinity receptor. Identity with the chylomicron remnant transport process

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117443

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8083367%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8083367%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

PubMed publication ID

8083367

1 reference