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

Genetic dyslipidemias.

Annales d'endocrinologie - 1 May 2026

Vergès Bruno

Abstract excerpt

Although genetic factors strongly influence lipid metabolism, genetic dyslipidemias refer to specific monogenic defects that significantly alter the function of proteins involved in lipid metabolism. Familial hypercholesterolemia results from mutations in the genes coding for LDL-receptor, apolipoprotein B100 (apoB100), PCSK9, or LDLRAP1. The rare homozygous form is severe, with extravascular lipid deposits at an...

Read the complete abstract on PubMed

Topics

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

Share to Proprotein Convertase 9
Share to Receptors, Lipoprotein
Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Apolipoprotein B-100

Share to Dyslipidemias

Share to Hyperlipoproteinemia Type I

Share to Hyperlipoproteinemia Type II

Share to Hypertriglyceridemia

Source

Identifiers

PMID: 41866072
DOI: 10.1016/j.ando.2026.102524

Genes

GPIHBP1
LDLRAP1
LMF1
PCSK9

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 16 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic dyslipidemias.PMID 41866072Read ↗

Familial combined hyperlipidemia: An overview of the underlying molecular mechanisms and therapeutic strategiesSemantic proximity Read ↗

Hypertriglyceridaemia due to genetic defects in lipoprotein lipase and apolipoprotein C-II.Semantic proximity Read ↗

Understanding Hypertriglyceridemia: Integrating Genetic InsightsSemantic proximity Read ↗

Molecular mechanisms, prevalence, and molecular methods for familial combined hyperlipidemia disease: A reviewSemantic proximity Read ↗

The familial chylomicronemia syndrome.Semantic proximity Read ↗

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia SyndromesSemantic proximity Read ↗

Genetics of Hypertriglyceridemia.Semantic proximity Read ↗

A Comprehensive Review of the Genetics of Dyslipidemias and Risk of Atherosclerotic Cardiovascular DiseaseSemantic proximity Read ↗

[Genetic basis of primary hypertriglyceridemia].Semantic proximity Read ↗

Hypotriglyceridemias/hypolipidemias.Semantic proximity Read ↗

Genetics of DyslipidemiaSemantic proximity Read ↗

[Congenital disorders of lipoprotein metabolism].Semantic proximity Read ↗

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