(Q33382898)

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A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities

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1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A frameshift mutation in the human apolipoprotein A-I gene causes high density lipoprotein deficiency, partial lecithin: cholesterol-acyltransferase deficiency, and corneal opacities (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

author name string

H Funke

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A von Eckardstein

2

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

P H Pritchard

3

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

M Karas

4

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

J J Albers

5

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

G Assmann

6

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

language of work or name

0 references

publication date

1 January 1991

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

87

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

371-376

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Familial apolipoprotein AI and apolipoprotein CIII deficiency. Subclass distribution, composition, and morphology of lipoproteins in a disorder associated with premature atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Isolation and sequence analysis of the human apolipoprotein CIII gene and the intergenic region between the apo AI and apo CIII genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Lecithin: cholesterol acyltransferase and the regulation of endogenous cholesterol transport.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Isolation and characterization of the human apolipoprotein A-I gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Human apolipoproteins AI, AII, CII and CIII. cDNA sequences and mRNA abundance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

The plasma lecithins:cholesterol acyltransferase reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Familial apolipoprotein A-I and C-III deficiency, variant II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Plasma lipoprotein abnormalities in heterozygotes for familial lecithin:cholesterol acyltransferase deficiency.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

DNA inversion within the apolipoproteins AI/CIII/AIV-encoding gene cluster of certain patients with premature atherosclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

High performance liquid chromatography and time-of-flight secondary ion mass spectrometry: a new dimension in structural analysis of apolipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Interaction of high density lipoproteins with cholesteryl ester-laden macrophages: biochemical and morphological characterization of cell surface receptor binding, endocytosis and resecretion of high density lipoproteins by macrophages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Apolipoprotein A-I variants. Naturally occurring substitutions of proline residues affect plasma concentration of apolipoprotein A-I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Identification of lipoprotein families in a variant of human plasma apolipoprotein A deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Apoprotein (E–A-II) complex of human plasma lipoproteins. II. Receptor binding activity of a high density lipoprotein subfraction modulated by the apo(E–A-II) complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=295069

14 July 2018

Simplified turbidimetric determination of apolipoproteins A-I, A-II and B using a microtitre method

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural analysis of human apolipoprotein A-I variants. Amino acid substitutions are nonrandomly distributed throughout the apolipoprotein A-I primary structure

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

One-step screening method for the polymorphism of apolipoproteins A-I, A-II, and A-IV

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial apolipoprotein A-I, C-III, and A-IV deficiency and premature atherosclerosis due to deletion of a gene complex on chromosome 11

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypoalphalipoproteinemia resembling fish eye disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Binding of high density lipoproteins to cell receptors promotes translocation of cholesterol from intracellular membranes to the cell surface

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of apolipoproteins involved in the interaction of human high density lipoprotein3 with receptors on cultured cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/1898657

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1172/JCI114997

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

release_7tg6b4mbybarbb53sdvqx7lgei

1 reference

https://api.fatcat.wiki/v0/release/7tg6b4mbybarbb53sdvqx7lgei

24 November 2022

based on heuristic

mapped directly with Wikidata item

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 July 2017

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