A unique genetic and biochemical presentation of fish-eye disease (Q34386276)

1 August 2017

title

A unique genetic and biochemical presentation of fish-eye disease (English)

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1 August 2017

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J A Kuivenhoven

1

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1 August 2017

E J van Voorst tot Voorst

2

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1 August 2017

H Wiebusch

3

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1 August 2017

S M Marcovina

4

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1 August 2017

H Funke

5

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1 August 2017

G Assmann

6

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1 August 2017

P H Pritchard

7

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1 August 2017

J J Kastelein

8

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1 August 2017

language of work or name

English

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publication date

1 December 1995

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Journal of Clinical Investigation

1 August 2017

language of work

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1 August 2017

volume

96

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1 August 2017

issue

6

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1 August 2017

page(s)

2783-2791

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Recombinant lecithin:cholesterol acyltransferase containing a Thr123-->Ile mutation esterifies cholesterol in low density lipoprotein but not in high density lipoprotein

1 August 2017

cites work

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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

6 July 2018

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6 July 2018

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Fish eye syndrome: a molecular defect in the lecithin-cholesterol acyltransferase (LCAT) gene associated with normal alpha-LCAT-specific activity. Implications for classification and prognosis

6 July 2018

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Markedly accelerated catabolism of apolipoprotein A-II (ApoA-II) and high density lipoproteins containing ApoA-II in classic lecithin: cholesterol acyltransferase deficiency and fish-eye disease

6 July 2018

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Radioimmunoassay of human plasma lecithin-cholesterol acyltransferase

6 July 2018

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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

6 July 2018

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

6 July 2018

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6 July 2018

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

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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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

6 July 2018

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6 July 2018

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Lecithin-cholesterol acyltransferase in the metabolism of high-density lipoproteins

6 July 2018

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

6 July 2018

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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)

6 July 2018

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Differential phenotypic expression by three mutant alleles in familial lecithin:cholesterol acyltransferase deficiency

6 July 2018

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Molecular defect in familial lecithin:cholesterol acyltransferase (LCAT) deficiency: a single nucleotide insertion in LCAT gene causes a complete deficient type of the disease

6 July 2018

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An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease

6 July 2018

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Detection of specific sequences among DNA fragments separated by gel electrophoresis

6 July 2018

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

6 July 2018

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Purification and substrate specificity of lecithin-cholesterol acyl transferase from human plasma

6 July 2018

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Alpha-lecithin:cholesterol acyltransferase deficiency. Lack of both phospholipase A2 and acyltransferase activities characteristic of high density lipoprotein lecithin:cholesterol acyltransferase in fish eye disease.

27 October 2018

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Comparison of improved precipitation methods for quantification of high-density lipoprotein cholesterol.

27 October 2018

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Atherogenic lipoprotein phenotype. A proposed genetic marker for coronary heart disease risk.

27 October 2018

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Differential electroimmunoassay of human LpA-I lipoprotein particles on ready-to-use plates

27 October 2018

1 reference

12 December 2020

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

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12 December 2020

Cell lineage ablation in transgenic mice by cell-specific expression of a toxin gene

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12 December 2020

A ‘Fish-eye disease’ familial condition with massive corneal opacities and hypoalphalipoproteinaemia: clinical, biochemical and genetic features

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12 December 2020

Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes

1 reference

12 December 2020

Rate nephelometric assay of serum lipoprotein(a)

1 reference

12 December 2020

Cold labelled substrate and estimation of cholesterol esterification rate in lecithin cholesterol acyltransferase radioassay

1 reference

12 December 2020

Subpopulations of apolipoprotein A-I in human high-density lipoproteins. Their metabolic properties and response to drug therapy

1 reference

12 December 2020

Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent

1 reference

12 December 2020

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

1 reference

12 December 2020

Characterization of lipoprotein particles isolated by immunoaffinity chromatography. Particles containing A-I and A-II and particles containing A-I but no A-II

1 reference

12 December 2020

Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83-->stop) and LCAT (tyr156-->asn)

1 reference

12 December 2020

In vivo metabolism of apolipoprotein A-I on high density lipoprotein particles LpA-I and LpA-I,A-II

1 reference

12 December 2020

Reagent for the enzymatic determination of serum total cholesterol with improved lipolytic efficiency

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12 December 2020

Studies of lipoprotein metabolism in a patient with fish-eye disease

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12 December 2020

Cholesterol esterification rate in plasma depleted of very low and low density lipoproteins is controlled by the proportion of HDL2 and HDL3 subclasses: study in hypertensive and normal middle-aged and septuagenarian men

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12 December 2020

SOME PROPERTIES OF A CHOLESTEROL ESTERIFYING ENZYME IN HUMAN PLASMA

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12 December 2020

Identifiers

DOI

10.1172/JCI118348

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1 August 2017

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1 August 2017

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