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

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.

Journal of lipid research - 1 Feb 2024

Medeiros Ana Margarida, Alves Ana Catarina, Miranda Beatriz, Chora Joana Rita, Bourbon Mafalda

Abstract excerpt

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes. Variants in FH-phenocopy genes (LDLRAP1, APOE, LIPA, ABCG5, and ABCG8), polygenic hypercholesterolemia, and hyperlipoprotein (a) [Lp(a)] can also mimic a clinical FH phenotype. We aim to present a new diagnostic tool to unravel the genetic background...

Read the complete abstract on PubMed

Topics

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

Share to Cholesterol, LDL
Share to Genetic Background

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypercholesterolemia

Share to Hyperlipoproteinemia Type II

Share to Mutation

Share to Phenotype

Share to Proprotein Convertase 9

Share to Receptors, LDL

Source

Open in PubMed Open full text

Identifiers

PMID: 38122934
DOI: 10.1016/j.jlr.2023.100490
PMCID: PMC10832474

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

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.PMID 38122934Read ↗

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.Semantic proximity Read ↗

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.Semantic proximity Read ↗

Beyond the Usual Suspects: Expanding on Mutations and Detection for Familial Hypercholesterolemia.Semantic proximity Read ↗

Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.Semantic proximity Read ↗

Familial Hypercholesterolemia: Prevalence and Discrepancy between Genotype and Phenotype. Findings of the Population-based Hamburg City Health Study.Semantic proximity Read ↗

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.Semantic proximity Read ↗

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.Semantic proximity Read ↗

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.Semantic proximity Read ↗

Update on genetics of familial hypercholesterolemia.Semantic proximity Read ↗

The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Semantic proximity Read ↗

Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).Semantic proximity Read ↗

Use of Lipoprotein(a) to improve diagnosis and management in clinical familial hypercholesterolemiaSemantic proximity Read ↗

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