(Q36739988)

16 August 2017

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

1 reference

16 August 2017

1 reference

4

Helen H Hobbs

1 reference

16 August 2017

5

Jonathan C Cohen

1 reference

16 August 2017

Saleemah Fahmi

1

1 reference

16 August 2017

Chendong Yang

series ordinal

2

1 reference

16 August 2017

Sophie Esmail

series ordinal

3

1 reference

16 August 2017

language of work or name

1 reference

15 April 2008

1 reference

16 August 2017

Human Molecular Genetics

1 reference

16 August 2017

17

1 reference

16 August 2017

14

1 reference

16 August 2017

2101-2107

1 reference

Mouse duplicate genes are as essential as singletons

16 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Loss of protein structure stability as a major causative factor in monogenic disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Random mutagenesis of proximal mouse chromosome 5 uncovers predominantly embryonic lethal mutations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Genetic Analysis of Indicators of Cholesterol Synthesis and Absorption: Lathosterol and Phytosterols in Dutch Twins and Their Parents

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Effects of ezetimibe, a new cholesterol absorption inhibitor, on plasma lipids in patients with primary hypercholesterolemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Absorption and metabolism of dietary cholesterol

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Variation in Niemann-Pick C1-like 1 gene as a determinant of apolipoprotein B-100 kinetics and response to statin therapy in centrally obese men.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

No association between plasma levels of plant sterols and atherosclerosis in mice and men.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Validation of a single-isotope-labeled cholesterol tracer approach for measuring human cholesterol absorption

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2441721

Serum cholestanol and plant sterol levels in relation to cholesterol metabolism in middle-aged men

5 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18413323

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18413323

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDN108

1 reference

16 August 2017

1 reference

16 August 2017

PubMed publication ID

18413323

1 reference