Inactivating mutations in NPC1L1 and protection from coronary heart disease (Q35105445)

6 August 2017

title

Inactivating mutations in NPC1L1 and protection from coronary heart disease (English)

1 reference

6 August 2017

main subject

coronary artery disease

1 reference

1 reference

6 August 2017

1 reference

6 August 2017

Hugh Christian Watkins

1 reference

6 August 2017

Heribert Schunkert

0 references

Eric Boerwinkle

Eric Boerwinkle

0 references

Donna Muzny

Donna Muzny

0 references

Jeanette Erdmann

Jeanette Erdmann

0 references

Stacey Gabriel

Stacey Gabriel

1 reference

6 August 2017

Eric S Lander

1 reference

6 August 2017

G Kees Hovingh

1 reference

6 August 2017

Nathan O Stitziel

0 references

Pradeep Natarajan

0 references

Themistocles L Assimes

Themistocles L Assimes

0 references

Hong-Hee Won

0 references

Rosanna Asselta

0 references

Alanna C Morrison

0 references

Stefano Duga

0 references

Roberto Elosua

0 references

Inke König

0 references

Muredach Reilly

0 references

Colin Palmer

0 references

Jerome I Rotter

1 reference

6 August 2017

Paola Ferrario

0 references

Jaume Marrugat

0 references

Adnan Kastrati

1 reference

6 August 2017

Karl-Ludwig Laugwitz

1 reference

6 August 2017

Danish Saleheen

1 reference

6 August 2017

Sekar Kathiresan

1 reference

6 August 2017

David Altshuler

1 reference

6 August 2017

David Siscovick

1 reference

6 August 2017

Julie E Buring

1 reference

6 August 2017

Paul M Ridker

1 reference

6 August 2017

Daniel I Chasman

1 reference

6 August 2017

James G Wilson

1 reference

6 August 2017

John Danesh

1 reference

6 August 2017

Daniel J Rader

1 reference

6 August 2017

Joshua C Denny

1 reference

ORCID Public Data File 2021

6 August 2017

Anuj Goel

1 reference

Thorsten Kessler

1 reference

ORCID Public Data File 2021

Deborah A Nickerson

Deborah A Nickerson

1 reference

6 August 2017

Christie M. Ballantyne

Christie Ballantyne

1 reference

6 August 2017

Dan M Roden

1 reference

6 August 2017

Goncalo Abecasis

1 reference

6 August 2017

Iftikhar J Kullo

1 reference

6 August 2017

Erin Austin

1 reference

6 August 2017

Peter E Weeke

1 reference

6 August 2017

Paul Auer

1 reference

6 August 2017

Namrata Gupta

1 reference

6 August 2017

Gina M Peloso

1 reference

6 August 2017

Lisa A Bastarache

1 reference

6 August 2017

Martin Farrall

1 reference

6 August 2017

Piera A Merlini

1 reference

6 August 2017

Nicola Marziliano

1 reference

6 August 2017

Ursula Schick

1 reference

6 August 2017

Diego Ardissino

1 reference

6 August 2017

Ruth McPherson

1 reference

6 August 2017

John Spertus

1 reference

6 August 2017

Leslie A Lange

1 reference

6 August 2017

Russell Tracy

1 reference

6 August 2017

Christopher J O'Donnell

Christopher J O'Donnell

1 reference

6 August 2017

Sharon Cresci

1 reference

6 August 2017

Jacy Crosby

1 reference

6 August 2017

Stephen S Rich

1 reference

6 August 2017

Stephen M Schwartz

1 reference

6 August 2017

Richard A Gibbs

1 reference

Maria Francesca Notarangelo

6 August 2017

Maria Francesca Notarangelo

1 reference

6 August 2017

Pierre Fontanillas

1 reference

6 August 2017

author name string

Myocardial Infarction Genetics Consortium Investigators

1 reference

6 August 2017

Ron Do

1 reference

6 August 2017

Robert Wilensky

1 reference

6 August 2017

Stanely L Hazen

1 reference

6 August 2017

Rebecca Jackson

1 reference

6 August 2017

Shamil Sunaev

1 reference

6 August 2017

Christian M Shaffer

1 reference

6 August 2017

Dan-Yu Lin

1 reference

6 August 2017

Zheng-zheng Tang

1 reference

6 August 2017

Alex P Reiner

1 reference

6 August 2017

language of work or name

English

0 references

publication date

12 November 2014

1 reference

The New England Journal of Medicine

6 August 2017

published in

1 reference

6 August 2017

volume

371

1 reference

6 August 2017

1 reference

6 August 2017

page(s)

2072-2082

1 reference

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

6 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

APOC3, coronary disease, and complexities of Mendelian randomization.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Guidelines for investigating causality of sequence variants in human disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

An electronic medical record-linked biorepository to identify novel biomarkers for atherosclerotic cardiovascular disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Searching for missing heritability: designing rare variant association studies

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Validating therapeutic targets through human genetics

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Emphasizing the burden of proof: The American College of Cardiology 2008 Expert Panel Comments on the ENHANCE Trial

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Efficacy and safety of more intensive lowering of LDL cholesterol: a meta-analysis of data from 170,000 participants in 26 randomised trials

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

NPC1L1 and cholesterol transport

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Genetic variants associated with Lp(a) lipoprotein level and coronary disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The Pakistan Risk of Myocardial Infarction Study: a resource for the study of genetic, lifestyle and other determinants of myocardial infarction in South Asia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Curses--winner's and otherwise--in genetic epidemiology

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Development of a large-scale de-identified DNA biobank to enable personalized medicine.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Simvastatin with or without ezetimibe in familial hypercholesterolemia

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Rationale, design, and methodology of the Women's Genome Health Study: a genome-wide association study of more than 25,000 initially healthy american women

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

A common allele on chromosome 9 associated with coronary heart disease

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The Jackson Heart Study: an overview.

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

NPC1L1 haplotype is associated with inter-individual variation in plasma low-density lipoprotein response to ezetimibe

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The target of ezetimibe is Niemann-Pick C1-Like 1 (NPC1L1)

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Niemann-Pick C1 Like 1 protein is critical for intestinal cholesterol absorption

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Paraoxonase1-192 polymorphism modulates the nonfatal myocardial infarction risk associated with decreased HDLs

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

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

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Dysfunctional nitric oxide signalling increases risk of myocardial infarction

9 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Rationale and design of IMPROVE-IT (IMProved Reduction of Outcomes: Vytorin Efficacy International Trial): comparison of ezetimbe/simvastatin versus simvastatin monotherapy on cardiovascular outcomes in patients with acute coronary syndromes

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Niemann-Pick C1 Like 1 (NPC1L1) is the intestinal phytosterol and cholesterol transporter and a key modulator of whole-body cholesterol homeostasis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

No evidence of association between prothrombotic gene polymorphisms and the development of acute myocardial infarction at a young age.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

Inhibition of intestinal cholesterol absorption by ezetimibe in humans

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

The plasma concentration and LDL-C relationship in patients receiving ezetimibe

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4335708

27 September 2018

Identifiers

DOI

10.1056/NEJMOA1405386

1 reference

6 August 2017

1 reference

6 August 2017

1 reference