Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia (Q37613167)

21 August 2017

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia (English)

1 reference

21 August 2017

12

R A Hegele

1 reference

21 August 2017

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J J P Kastelein

1 reference

21 August 2017

3

S. Heemelaar

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22 December 2024

Geesje M Dallinga-Thie

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G. M. Dallinga-Thie

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language of work or name

English

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publication date

13 February 2012

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PMC publication ID

3940136

full work available at URL

21 August 2017

https://europepmc.org/articles/pmc3940136?pdf=render

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22 December 2024

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22 December 2024

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https://doi.org/10.1111/j.1365-2796.2012.02516.x

22 December 2024

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111/j.1365-2796.2012.02516.x

22 December 2024

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10.1111/J.1365-2796.2012.02516.X

DOI

https://api.crossref.org/works/10.1111/J.1365-2796.2012.02516.X

https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1365-2796.2012.02516.x

22 December 2024

1 reference

10.1111/J.1365-2796.2012.02516.X

DOI

https://api.crossref.org/works/10.1111/J.1365-2796.2012.02516.X

Journal of Internal Medicine

22 December 2024

published in

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21 August 2017

272

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21 August 2017

2

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21 August 2017

185-196

1 reference

Deletion of GPIHBP1 causing severe chylomicronemia

21 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

GPIHBP1, an endothelial cell transporter for lipoprotein lipase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

An increased burden of common and rare lipid-associated risk alleles contributes to the phenotypic spectrum of hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Triglycerides and cardiovascular disease: a scientific statement from the American Heart Association

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Genetic determinants of plasma triglycerides

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

GPIHBP1 is responsible for the entry of lipoprotein lipase into capillaries

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

GPIHBP1 stabilizes lipoprotein lipase and prevents its inhibition by angiopoietin-like 3 and angiopoietin-like 4

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

A quantitative assay measuring the function of lipase maturation factor 1

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Diagnostic value of post-heparin lipase testing in detecting common genetic variants in the LPL and LIPC genes

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

A diagnostic algorithm for the atherogenic apolipoprotein B dyslipoproteinemias.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Monogenic pediatric dyslipidemias: classification, genetics and clinical spectrum

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Mutations in LMF1 cause combined lipase deficiency and severe hypertriglyceridemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650).

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Prediction of deleterious human alleles

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

A deletion mutation in the ApoC-II gene (ApoC-II Nijmegen) of a patient with a deficiency of apolipoprotein C-II

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Two naturally occurring mutations at the first and second bases of codon aspartic acid 156 in the proposed catalytic triad of human lipoprotein lipase. In vivo evidence that aspartic acid 156 is essential for catalysis

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Common sequence variants of lipoprotein lipase: standardized studies of in vitro expression and catalytic function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Recurrent pancreatitis and chylomicronemia in an extended Dutch kindred is caused by a Gly154-->Ser substitution in lipoprotein lipase.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Intramuscular administration of AAV1-lipoprotein lipase S447X lowers triglycerides in lipoprotein lipase-deficient patients

25 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Genetic screening of the LPL gene in hypertriglyceridaemic patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Structure-function relationships of lipoprotein lipase: mutation analysis and mutagenesis of the loop region

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3940136

Plasma apolipoprotein A5 and triglycerides in type 2 diabetes

1 September 2018

1 reference

https://api.crossref.org/works/10.1111/J.1365-2796.2012.02516.X

Homozygosity for a mutation in the lipoprotein lipase gene (Gly139?Ser) causes chylomicronaemia in a boy of Spanish descent

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1365-2796.2012.02516.X

A missense mutation (Asp250→Asn) in exon 6 of the human lipoprotein lipase gene causes chylomicronemia in patients of different ancestries

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1365-2796.2012.02516.X

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene

21 January 2018

1 reference

12 December 2020

Apolipoprotein CII (apo CII) gene expression defect in an individual with familial apo CII deficiency

1 reference

12 December 2020

Molecular basis of familial chylomicronemia: mutations in the lipoprotein lipase and apolipoprotein C-II genes

1 reference

12 December 2020

A compound heterozygote for lipoprotein lipase deficiency, Val69-->Leu and Gly188-->Glu: correlation between in vitro LPL activity and clinical expression

1 reference

12 December 2020

Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutations

1 reference

12 December 2020

Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650)

1 reference

12 December 2020

Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia

1 reference

12 December 2020

10.1111/J.1365-2796.2012.02516.X

Identifiers

DOI

1 reference

21 August 2017

1 reference

PMC publication ID

3940136

21 August 2017

1 reference

PMC publication ID

3940136