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

Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.

The Journal of clinical endocrinology and metabolism - 1 Jul 2012

Minicocci Ilenia, Montali Anna, Robciuc Marius Robert, Quagliarini Fabiana, Censi Vincenzo, Labbadia Giancarlo, Gabiati Claudia, Pigna Giovanni, Sepe Maria Laura, Pannozzo Fabio, Lütjohann Dieter, Fazio Sergio, Jauhiainen Matti, Ehnholm Christian, Arca Marcello

Abstract excerpt

CONTEXT: Familial combined hypolipidemia causes a global reduction of plasma lipoproteins. Its clinical correlates and metabolic implications have not been well defined. OBJECTIVE: The objective of the study was to investigate the genetic, clinical, and metabolic characteristics of a cohort of subjects with familial combined hypolipidemia. DESIGN: The design of the study included candidate gene screening and the...

Read the complete abstract on PubMed

Topics

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

Share to Angiopoietin-Like Protein 3
Share to Angiopoietin-like Proteins

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

Share to Angiopoietins

Share to Apolipoprotein A-I

Share to Apolipoproteins B

Share to Cholesterol

Share to Family

Source

Open in PubMed Open full text

Identifiers

PMID: 22659251
DOI: 10.1210/jc.2012-1298
PMCID: PMC5393441

Genes

ANGPTL3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Mutations in the ANGPTL3 gene and familial combined hypolipidemia: a clinical and biochemical characterization.PMID 22659251Read ↗

Clinical characteristics and plasma lipids in subjects with familial combined hypolipidemia: a pooled analysis.Semantic proximity Read ↗

Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.Semantic proximity Read ↗

Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia.Semantic proximity Read ↗

Recent developments in the genetics of LDL deficiency.Semantic proximity Read ↗

Identification of a Gain-of-Function LIPC Variant as a Novel Cause of Familial Combined HypocholesterolemiaSemantic proximity Read ↗

Familial combined hypolipidemia: angiopoietin-like protein-3 deficiencySemantic proximity Read ↗

Characterization of three kindreds with familial combined hypolipidemia caused by loss-of-function mutations of ANGPTL3.Semantic proximity Read ↗

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

Angptl3 deficiency is associated with increased insulin sensitivity, lipoprotein lipase activity, and decreased serum free fatty acids.Semantic proximity Read ↗

Hypobetalipoproteinemia and abetalipoproteinemia.Semantic proximity Read ↗

ANGPTL3 Gene Variants in Subjects With Familial Combined HyperlipidemiaSemantic proximity Read ↗

ANGPTL3 gene variants in subjects with familial combined hyperlipidemia.Semantic proximity Read ↗

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