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

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.

Journal of clinical lipidology - 1 Jan 2000

Lamiquiz-Moneo Itziar, Baila-Rueda Lucía, Bea Ana M, Mateo-Gallego Rocío, Pérez-Calahorra Sofía, Marco-Benedí Victoria, Martín-Navarro Antonio, Ros Emilio, Cofán Montserrat, Rodríguez-Rey José Carlos, Pocovi Miguel, Cenarro Ana, Civeira Fernando

Abstract excerpt

CONTEXT: Approximately 20% to 40% of clinically defined familial hypercholesterolemia (FH) cases do not show a causative mutation in candidate genes (mutation-negative FH), and some of them may have a polygenic origin. OBJECTIVE: The aim of this work was to study the prevalence of ABCG5/G8 genetic variants in mutation-negative FH, as defects in these genes relate to intestinal hyperabsorption of cholesterol and...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to ATP Binding Cassette Transporter, Subfamily G, Member 5

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cholesterol, LDL

Share to Genetic Association Studies

Share to Hyperlipoproteinemia Type II

Share to Lipoproteins

Share to Sterols

Share to Young Adult

Source

Identifiers

PMID: 29066094
DOI: 10.1016/j.jacl.2017.09.005

Genes

ABCG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ABCG5/G8 gene is associated with hypercholesterolemias without mutation in candidate genes and noncholesterol sterols.PMID 29066094Read ↗

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery DiseaseSemantic proximity Read ↗

ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.Semantic proximity Read ↗

Thematic Review Series: Lipid Transfer Proteins ABCG5 and ABCG8: more than a defense against xenosterolsSemantic proximity Read ↗

Clinical and genetic analysis of an early-onset sitosterolemia family caused by a novel compound heterozygous ABCG5 mutation.Semantic proximity Read ↗

Sitosterolemia: Twenty Years of Discovery of the Function of ABCG5ABCG8.Semantic proximity Read ↗

Recent advances in understanding the STSL locus and ABCG5/ABCG8 biology.Semantic proximity Read ↗

Rare and Deleterious Mutations in ABCG5/ABCG8 Genes Contribute to Mimicking and Worsening of Familial Hypercholesterolemia PhenotypeSemantic proximity Read ↗

Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous MutationSemantic proximity Read ↗

Genetic and functional identification of the likely causative variant for cholesterol gallstone disease at the ABCG5/8 lithogenic locus.Semantic proximity Read ↗

Genes Potentially Associated with Familial Hypercholesterolemia.Semantic proximity Read ↗

First case of sitosterolemia caused by double heterozygous mutations in ABCG5 and ABCG8 genes.Semantic proximity Read ↗

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.Semantic proximity Read ↗

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