(Q30406862)

English

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations

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scholarly article

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Europe PubMed Central

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21 June 2017

High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations (English)

1 reference

Europe PubMed Central

PubMed publication ID

21 June 2017

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John J. P. Kastelein

7

object named as

John J P Kastelein

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Europe PubMed Central

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21 June 2017

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Erik S Stroes

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21 June 2017

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G Kees Hovingh

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21 June 2017

author name string

Adriaan G Holleboom

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21 June 2017

Jan A Kuivenhoven

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21 June 2017

Frank Peelman

3

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Europe PubMed Central

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21 June 2017

Alinda W Schimmel

4

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Europe PubMed Central

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21 June 2017

Jorge Peter

5

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Europe PubMed Central

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21 June 2017

Joep C Defesche

6

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21 June 2017

Mohammad Mahdi Motazacker

10

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21 June 2017

publication date

23 September 2011

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21 June 2017

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21 June 2017

32

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11

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21 June 2017

1290-1298

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21 June 2017

Experiences with array-based sequence capture; toward clinical applications

1 reference

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Adenoviral expression of human lecithin-cholesterol acyltransferase in nonhuman primates leads to an antiatherogenic lipoprotein phenotype by increasing high-density lipoprotein and lowering low-density lipoprotein

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The molecular basis of lecithin:cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian families

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Identification and characterization of novel loss of function mutations in ATP-binding cassette transporter A1 in patients with low plasma high-density lipoprotein cholesterol

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Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

1 reference

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21 January 2018

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

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21 January 2018

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

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21 January 2018

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

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21 January 2018

Heritability of longitudinal measures of body mass index and lipid and lipoprotein levels in aging twins

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Fast and accurate automatic structure prediction with HHpred.

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The value of HDL genetics

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21 January 2018

A novel apoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease

1 reference

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21 January 2018

Compromised LCAT function is associated with increased atherosclerosis

1 reference

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21 January 2018

HDL deficiency and atherosclerosis: lessons from Tangier disease

1 reference

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21 January 2018

Regulation of lecithin cholesterol acyltransferase activity

1 reference

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21 January 2018

Lecithin cholesterol acyltransferase

1 reference

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21 January 2018

Two novel molecular defects in the LCAT gene are associated with fish eye disease

1 reference

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21 January 2018

Genetics of HDL regulation in humans

1 reference

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21 January 2018

Insight into the role of LCAT from mouse models

1 reference

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21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

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21 January 2018

A proposed architecture for lecithin cholesterol acyl transferase (LCAT): identification of the catalytic triad and molecular modeling

1 reference

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21 January 2018

Human non-synonymous SNPs: server and survey

1 reference

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21 January 2018

I-TASSER: a unified platform for automated protein structure and function prediction

1 reference

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21 January 2018

Lecithin-cholesterol acyltransferase: role in lipoprotein metabolism, reverse cholesterol transport and atherosclerosis

1 reference

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21 January 2018

The HDL hypothesis: does high-density lipoprotein protect from atherosclerosis?

1 reference

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21 January 2018

LOMETS: a local meta-threading-server for protein structure prediction

1 reference

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Apolipoprotein A-I deficiency with accumulated risk for CHD but no symptoms of CHD.

1 reference

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21 January 2018

Performance of the Pro-sp3-TASSER server in CASP8

1 reference

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21 January 2018

Functional Lecithin: Cholesterol Acyltransferase Is Not Required for Efficient Atheroprotection in Humans

1 reference

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21 January 2018

Genetic etiology of isolated low HDL syndrome: incidence and heterogeneity of efflux defects

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Molecular genetic study of Finns with hypoalphalipoproteinemia and hyperalphalipoproteinemia: a novel Gly230 Arg mutation (LCAT[Fin]) of lecithin:cholesterol acyltransferase (LCAT) accounts for 5% of cases with very low serum HDL cholesterol levels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21578

7 January 2021

based on heuristic

inferred from DOI database lookup

Apolipoprotein A-I(Zavalla) (Leu159-->Pro): HDL cholesterol deficiency in a kindred associated with premature coronary artery disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21578

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial serum-cholesterol esterification failure. A new inborn error of metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21578

7 January 2021

based on heuristic

inferred from DOI database lookup

A novel missense mutation (Asn5-->Ile) in lecithin: cholesterol acyltransferase (LCAT) gene in a Japanese patient with LCAT deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21578

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of apolipoprotein A-I, lecithin:cholesterol acyltransferase and glucocerebrosidase genes in hypoalphalipoproteinemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21578

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.21578

1 reference

Europe PubMed Central

PubMed publication ID

21 June 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

21 June 2017

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