(Q24564900)

English

Two 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)

scientific article published on February 1, 1992

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scholarly article

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Two 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) (English)

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1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

author name string

H. G. Klein

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

P. Lohse

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

P. H. Pritchard

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

D. Bojanovski

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

H. Schmidt

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

H. B. Brewer

6

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

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publication date

February 1992

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full work available at URL

https://europepmc.org/articles/PMC442879

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Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

https://europepmc.org/articles/PMC442879?pdf=render

Portable Document Format

online access status

content deliverer

Europe PubMed Central

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1737840

12 November 2022

Journal of Clinical Investigation

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89

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2

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499-506

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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=442879

24 March 2017

A molecular defect causing fish eye disease: an amino acid exchange in lecithin-cholesterol acyltransferase (LCAT) leads to the selective loss of alpha-LCAT activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

A simple method for displaying the hydropathic character of a protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

7 April 2017

2 New M13 vectors for cloning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

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=442879

24 March 2017

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

The isolation and characterisation of a cDNA clone for human lecithin:cholesterol acyl transferase and its use to analyse the genes in patients with LCAT deficiency and fish eye disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

Lecithin cholesterol acyl transferase deficiency: molecular analysis of a mutated allele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

Lecithin-cholesterol acyltransferase (LCAT) deficiency with a missense mutation in exon 6 of the LCAT gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

24 March 2017

THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

7 April 2017

Prediction of protein antigenic determinants from amino acid sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

7 April 2017

Phosphorus assay in column chromatography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

7 April 2017

Sharper separation of lipoprotein species by paper electrophoresis in albumin-containing buffer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

A program for prediction of protein secondary structure from nucleotide sequence data: application to histocompatibility antigens

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

Familial LCAT deficiency and fish-eye disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

Tissue-specific expression, developmental regulation, and chromosomal mapping of the lecithin: cholesterol acyltransferase gene. Evidence for expression in brain and testes as well as liver

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

Nucleotide sequence of the cDNA for lecithin-cholesterol acyl transferase (LCAT) from the rat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

Effects of site-directed mutagenesis at residues cysteine-31 and cysteine-184 on lecithin-cholesterol acyltransferase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

Evidence for the presence in human plasma of lecithin: cholesterol acyltransferase activity (beta-LCAT) specifically esterifying free cholesterol of combined pre-beta- and beta-lipoproteins. Studies of fish eye disease patients and control subjects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

27 September 2017

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=442879

30 May 2018

Evidence for deficiency of high density lipoprotein lecithin: cholesterol acyltransferase activity (alpha-LCAT) in fish eye disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

30 May 2018

Paradoxical esterification of plasma cholesterol in fish eye disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

30 May 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=442879

30 May 2018

In vitro normalization of cholesteryl ester content and particle size of fish eye disease high density lipoproteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

30 May 2018

A simple method for predicting the secondary structure of globular proteins: implications and accuracy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

30 May 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=442879

30 May 2018

Human plasma lecithin-cholesterol acyltransferase. Inhibition of the phospholipase A2-like activity by sn-2-difluoroketone phosphatidylcholine analogues

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=442879

30 May 2018

Direct cloning and sequence analysis of enzymatically amplified genomic sequences

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human plasma lecithin-cholesterol acyltransferase. The vicinal nature of cysteine 31 and cysteine 184 in the catalytic site

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

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/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enzyme-linked immunoabsorbant assay of apolipoprotein AII in plasma, with use of a monoclonal antibody

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Normalization of high density lipoprotein in fish eye disease plasma by purified normal human lecithin: cholesterol acyltransferase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-dimensional electrophoresis of human plasma apolipoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Net lipid transfer between lipoproteins in fish-eye disease plasma supplemented with normal high density lipoproteins

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interaction of lecithin-cholesterol acyltransferase with human plasma lipoproteins and with lecithin-cholesterol vesicles

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fish eye disease: a new familial condition with massive corneal opacities and dyslipoproteinaemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial lecithin-cholesterol acyltransferase deficiency in four Norwegian Families. Evidence for low levels of a functionally defective enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Plasma lipid transfer in fish-eye disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on high density lipoproteins in fish eye disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A further case of fish-eye disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol esterification rates in very low density lipoprotein- and low density lipoprotein-depleted plasma. Relation to high density lipoprotein subspecies, sex, hyperlipidemia, and coronary artery disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/1737840

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1172/JCI115612

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