Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization (Q33569939)

28 July 2017

Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization (English)

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28 July 2017

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Matti Jauhiainen

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28 July 2017

Ilenia Minicocci

1

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Fabiana Quagliarini

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Fabiana Quagliarini

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author name string

Anna Montali

2

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28 July 2017

Marius Robert Robciuc

3

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28 July 2017

Vincenzo Censi

5

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28 July 2017

Giancarlo Labbadia

6

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28 July 2017

Claudia Gabiati

7

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28 July 2017

Giovanni Pigna

8

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28 July 2017

Maria Laura Sepe

9

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28 July 2017

Fabio Pannozzo

10

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28 July 2017

Dieter Lütjohann

11

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28 July 2017

Sergio Fazio

12

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28 July 2017

Christian Ehnholm

14

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28 July 2017

Marcello Arca

15

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28 July 2017

language of work or name

English

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publication date

1 June 2012

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The Journal of Clinical Endocrinology and Metabolism

28 July 2017

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28 July 2017

97

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28 July 2017

E1266-75

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28 July 2017

7

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Regulation of triglyceride metabolism by Angiopoietin-like proteins

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Biological, clinical and population relevance of 95 loci for blood lipids

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Relationship between cholesterol synthesis and intestinal absorption is associated with cardiovascular risk

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Quantitation of serum angiopoietin-like proteins 3 and 4 in a Finnish population sample

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Annexin A2 is a C-terminal PCSK9-binding protein that regulates endogenous low density lipoprotein receptor levels

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Angiopoietin-like protein3 regulates plasma HDL cholesterol through suppression of endothelial lipase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Genetics and regulation of angiopoietin-like proteins 3 and 4.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Familial hypobetalipoproteinemia: genetics and metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Proprotein convertase subtilisin kexin 9: the third locus implicated in autosomal dominant hypercholesterolemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Effects of free fatty acids (FFA) on glucose metabolism: significance for insulin resistance and type 2 diabetes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

A decreased expression of angiopoietin-like 3 is protective against atherosclerosis in apoE-deficient mice

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

ANGPTL3 decreases very low density lipoprotein triglyceride clearance by inhibition of lipoprotein lipase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Report of the Conference on Low Blood Cholesterol: Mortality Associations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Identification of a new functional domain in angiopoietin-like 3 (ANGPTL3) and angiopoietin-like 4 (ANGPTL4) involved in binding and inhibition of lipoprotein lipase (LPL).

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Transgenic angiopoietin-like (angptl)4 overexpression and targeted disruption of angptl4 and angptl3: regulation of triglyceride metabolism.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined h

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Known mutations of apoB account for only a small minority of hypobetalipoproteinemia.

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5393441

Mutations in MTP gene in abeta- and hypobeta-lipoproteinemia

31 October 2018

1 reference

12 December 2020

Plasma non-cholesterol sterols in primary hypobetalipoproteinemia

1 reference

12 December 2020

A form of familial hypobetalipoproteinaemia not due to a mutation in the apolipoprotein B gene

1 reference

12 December 2020

In vivo metabolism of ApoB, ApoA-I, and VLDL triglycerides in a form of hypobetalipoproteinemia not linked to the ApoB gene

1 reference

12 December 2020

Identification of a novel mutation in the ANGPTL3 gene in two families diagnosed of familial hypobetalipoproteinemia without APOB mutation

1 reference

12 December 2020

Mean levels and distributions of some cardiovascular risk factors in Italy in the 1970's and the 1980's. The Italian RIFLE Pooling Project. Risk factors and life expectancy

1 reference

12 December 2020

Apolipoprotein E genotyping in the Malay, Chinese and Indian ethnic groups in Malaysia-a study on the distribution of the different apoE alleles and genotypes

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2012-1298

1 reference

28 July 2017

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28 July 2017

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