Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia.

Nutrition, metabolism, and cardiovascular diseases : NMCD - 1 May 2010

Martín B, Solanas-Barca M, García-Otín A-L, Pampín S, Cofán M, Ros E, Rodríguez-Rey J-C, Pocoví M, Civeira F

Abstract excerpt

BACKGROUND AND AIMS: A substantial number of subjects with autosomal dominant hypercholesterolemia (ADH) do not have LDL receptor (LDLR) or apolipoprotein B (APOB) mutations. Some ADH subjects appear to hyperabsorb sterols from the intestine, thus we hypothesized that they could have variants of the Niemann-Pick C1-Like 1 gene (NPC1L1). NPC1L1 encodes a crucial protein involved in intestinal sterol absorption....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Apolipoproteins B
Share to Cholesterol, Dietary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electrophoretic Mobility Shift Assay

Share to Hyperlipoproteinemia Type II

Share to Lipids

Share to Luciferases

Share to Receptors, LDL

Share to Sterols

Source

Identifiers

PMID: 19747803
DOI: 10.1016/j.numecd.2009.03.023

Genes

APOB
LDLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia.PMID 19747803Read ↗

The g.-762T>C polymorphism of the NPC1L1 gene is common in Chinese and contributes to a higher promoter activity and higher serum cholesterol levels.Semantic proximity Read ↗

Genetic variation at the NPC1L1 gene locus, plasma lipoproteins, and heart disease risk in the elderly.Semantic proximity Read ↗

Analysis of Niemann-Pick C1-like 1 (NPC1L1) genetic polymorphisms and haplotypes in Chinese Han population.Semantic proximity Read ↗

The c.-133A > G polymorphism in NPC1L1 gene influences the efficacy of ezetimibe monotherapy on apolipoprotein A1 in hyperlipidemic patients.Semantic proximity Read ↗

NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes.Semantic proximity Read ↗

Gene polymorphism and frequencies of the NPC1L1 gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia.Semantic proximity Read ↗

In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers.Semantic proximity Read ↗

Identification and characterization of NPC1L1 variants in Uygur and Kazakh with extreme low-density lipoprotein cholesterol.Semantic proximity Read ↗

A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.Semantic proximity Read ↗

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.Semantic proximity Read ↗

Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations.Semantic proximity Read ↗

A SNP of NPC1L1 affects cholesterol absorption in Japanese.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.