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

Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.

Journal of lipid research - 1 Sept 2004

Sehayek Ephraim, Yu Hannah J, von Bergmann Klaus, Lutjohann Dieter, Stoffel Markus, Duncan Elizabeth M, Garcia-Naveda Laura, Salit Jacqueline, Blundell Maude L, Friedman Jeffrey M, Breslow Jan L

Abstract excerpt

Screening of 932 adults on the Pacific island of Kosrae for plasma plant sterol levels disclosed three subjects, two of them asymptomatic, with phytosterolemia. Sequencing the ATP binding cassette subfamily G member 8 (ABCG8) gene revealed a novel exon 2 mutation that causes a change in codon 24...

Read the complete abstract on PubMed

Topics

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

Share to Aged, 80 and over
Share to ATP Binding Cassette Transporter, Subfamily G, Member 8

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to ATP-Binding Cassette Transporters

Share to Founder Effect

Share to Hyperlipidemias

Share to Lipoproteins

Share to Phytosterols

Source

Identifiers

PMID: 15210841
DOI: 10.1194/jlr.M400006-JLR200

Genes

ABCG8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15210841-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phytosterolemia on the island of Kosrae: founder effect for a novel ABCG8 mutation results in high carrier rate and increased plasma plant sterol levels.PMID 15210841Read ↗

Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.Semantic proximity Read ↗

Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.Semantic proximity Read ↗

Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.Semantic proximity Read ↗

The ABCG8 G574R variant, serum plant sterol levels, and cardiovascular disease risk in the Old Order Amish.Semantic proximity Read ↗

Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.Semantic proximity Read ↗

Identification of a novel mutation for phytosterolemia. Genetic analyses of 2 cases.Semantic proximity Read ↗

Mutations in the ABCG8 gene are associated with sitosterolaemia in the homozygous form and xanthelasmas in the heterozygous form.Semantic proximity Read ↗

Plant Sterols, Stanols, and Sitosterolemia.Semantic proximity Read ↗

The natural history of phytosterolemia: Observations on its homeostasis.Semantic proximity Read ↗

Genetic basis of sitosterolemia.Semantic proximity Read ↗

Candidate genes involved in cardiovascular risk factors by a family-based association study on the island of Kosrae, Federated States of Micronesia.Semantic proximity Read ↗

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.Semantic proximity Read ↗

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