Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels (Q34478587)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16449388%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

title

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

1 reference

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16 January 2020

1 reference

Alexander Pertsemlidis

series ordinal

2

1 reference

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16 January 2020

5

Gloria L Vega

1 reference

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16 January 2020

6

Scott M Grundy

1 reference

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16 January 2020

7

Helen H Hobbs

1 reference

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16 January 2020

1

Jonathan C Cohen

1 reference

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16 January 2020

author name string

Saleemah Fahmi

series ordinal

3

1 reference

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16 January 2020

Sophie Esmail

series ordinal

4

1 reference

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16 January 2020

language of work or name

English

0 references

publication date

31 January 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16449388%20AND%20SRC:MED&resulttype=core&format=json

Proceedings of the National Academy of Sciences of the United States of America

16 January 2020

published in

1 reference

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16 January 2020

volume

103

1 reference

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16 January 2020

page(s)

1810-1815

1 reference

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16 January 2020

issue

6

1 reference

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

16 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

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

6 July 2018

1 reference

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Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Haploview: analysis and visualization of LD and haplotype maps

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Deconstructing the relationship between genetics and race

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

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

6 July 2018

1 reference

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The amino-acid mutational spectrum of human genetic disease

6 July 2018

1 reference

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Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease

6 July 2018

1 reference

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Genetic structure of human populations

6 July 2018

1 reference

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The structure of haplotype blocks in the human genome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Score tests for association between traits and haplotypes when linkage phase is ambiguous

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Bayesian haplotype inference for multiple linked single-nucleotide polymorphisms

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Are rare variants responsible for susceptibility to complex diseases?

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Inference of population structure using multilocus genotype data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

6 July 2018

1 reference

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PHD: predicting one-dimensional protein structure by profile-based neural networks

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

Correlation between serum levels of some cholesterol precursors and activity of HMG-CoA reductase in human liver.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

The use of measured genotype information in the analysis of quantitative phenotypes in man. II. The role of the apolipoprotein E polymorphism in determining levels, variability, and covariability of cholesterol, betalipoprotein, and triglycerides in

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

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

6 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

Sequence variation in NPC1L1 and association with improved LDL-cholesterol lowering in response to ezetimibe treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

The Dallas Heart Study: a population-based probability sample for the multidisciplinary study of ethnic differences in cardiovascular health.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

High-level expression of ABCG5 and ABCG8 attenuates diet-induced hypercholesterolemia and atherosclerosis in Ldlr-/- mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

Partition-ligation-expectation-maximization algorithm for haplotype inference with single-nucleotide polymorphisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0508483103

Percent cholesterol absorption in normal women and men quantified with dual stable isotopic tracers and negative ion mass spectrometry.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1413637

The allelic spectra of common diseases may resemble the allelic spectrum of the full genome

27 October 2018

1 reference

12 December 2020

Serum plant sterols and cholesterol precursors reflect cholesterol absorption and synthesis in volunteers of a randomly selected male population

1 reference

12 December 2020

The new genomics: global views of biology

1 reference

12 December 2020

Comparison of pravastatin with crystalline nicotinic acid monotherapy in treatment of combined hyperlipidemia

1 reference

12 December 2020

Population genetics--making sense out of sequence

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0508483103

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16449388%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

0 references

release_lz43patfljd4jjalcfshuflkxu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/lz43patfljd4jjalcfshuflkxu

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16449388%20AND%20SRC:MED&resulttype=core&format=json

16 January 2020

1 reference