Loss-of-function mutations in APOC3, triglycerides, and coronary disease (Q30408720)

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Loss-of-function mutations in APOC3, triglycerides, and coronary disease (English)

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13 October 2017

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Deborah N Farlow

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Bruce M Psaty

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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9 June 2020

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Charles Kooperberg

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9 June 2020

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Franziska Degenhardt

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9 June 2020

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Yingchang Lu

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9 June 2020

author name string

TG and HDL Working Group of the Exome Sequencing Project, National Heart, Lung, and Blood Institute

1

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Ron Do

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Youna Hu

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Hyun Min Kang

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Domenico Girelli

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9 June 2020

Stacey Gabriel

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Sekar Kathiresan

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9 June 2020

language of work or name

English

0 references

publication date

18 June 2014

1 reference

The New England Journal of Medicine

13 October 2017

1 reference

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9 June 2020

volume

371

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24941081 AND SRC:MED&resulttype=core&format=json

9 June 2020

issue

1

1 reference

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9 June 2020

page(s)

22-31

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24941081 AND SRC:MED&resulttype=core&format=json

Discovery and refinement of loci associated with lipid levels

9 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Common variants associated with plasma triglycerides and risk for coronary artery disease

20 June 2018

1 reference

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Antisense oligonucleotide inhibition of apolipoprotein C-III reduces plasma triglycerides in rodents, nonhuman primates, and humans

20 June 2018

1 reference

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Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

20 June 2018

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Evolution and functional impact of rare coding variation from deep sequencing of human exomes

20 June 2018

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Effect of a monoclonal antibody to PCSK9 on LDL cholesterol

20 June 2018

1 reference

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A systematic survey of loss-of-function variants in human protein-coding genes

20 June 2018

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A General Framework for Detecting Disease Associations with Rare Variants in Sequencing Studies

20 June 2018

1 reference

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Triglyceride-rich lipoproteins and high-density lipoprotein cholesterol in patients at high risk of cardiovascular disease: evidence and guidance for management

20 June 2018

1 reference

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

20 June 2018

1 reference

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Dissociation betweenAPOC3variants, hepatic triglyceride content and insulin resistance

20 June 2018

1 reference

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

20 June 2018

1 reference

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Apolipoprotein C-III and the metabolic basis for hypertriglyceridemia and the dense low-density lipoprotein phenotype

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Apolipoprotein C3 gene variants in nonalcoholic fatty liver disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Effects of combination lipid therapy in type 2 diabetes mellitus

20 June 2018

1 reference

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Functional analysis of the missense APOC3 mutation Ala23Thr associated with human hypotriglyceridemia

20 June 2018

1 reference

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Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

20 June 2018

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Targeted capture and massively parallel sequencing of 12 human exomes

20 June 2018

1 reference

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Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection

20 June 2018

1 reference

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Methods for detecting associations with rare variants for common diseases: application to analysis of sequence data

20 June 2018

1 reference

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PLINK: a tool set for whole-genome association and population-based linkage analyses

20 June 2018

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Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Multi-Ethnic Study of Atherosclerosis: objectives and design

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Characterization of the lipid-binding properties and lipoprotein lipase inhibition of a novel apolipoprotein C-III variant Ala23Thr

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

The Collaborative Lipid Research Clinics Family Study: biological and cultural determinants of familial resemblance for plasma lipids and lipoproteins.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Inhibitory effects of C apolipoproteins from rats and humans on the uptake of triglyceride-rich lipoproteins and their remnants by the perfused rat liver

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

CARDIA: study design, recruitment, and some characteristics of the examined subjects

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

The Cardiovascular Health Study: design and rationale

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Apolipoprotein C-III: going back to the future for a lipid drug target

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

n-3 fatty acids and cardiovascular outcomes in patients with dysglycemia

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

An investigation of coronary heart disease in families. The Framingham offspring study

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4180269

Epidemiological approaches to heart disease: the Framingham Study

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24941081

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Toward resolution of cardiovascular health disparities in African Americans: design and methods of the Jackson Heart Study

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24941081

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1056/NEJMOA1307095

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24941081 AND SRC:MED&resulttype=core&format=json

9 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24941081 AND SRC:MED&resulttype=core&format=json

9 June 2020

PubMed publication ID

24941081

1 reference