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

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

14 Sept 2019

Abstract excerpt

Severe hypertriglyceridemia (HTG) is a relatively common form of dyslipidemia with a complex pathophysiology and serious health complications. HTG can develop in the presence of rare genetic factors disrupting genes involved in the triglyceride (TG) metabolic pathway, including large-scale copy-number variants (CNVs). Improvements in next-generation sequencing technologies and bioinformatic analyses have better...

Read the complete abstract on PubMed

Topics

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

Share to Caveolin-1 and cellular processes
Share to Lipid metabolism and disorders
Share to Peroxisome Proliferator-Activated Receptors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 31519763
DOI: 10.1194/jlr.p119000335

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemiaPMID 31519763Read ↗

Progress in finding pathogenic DNA copy number variations in dyslipidemiaSemantic proximity Read ↗

Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read ↗

Lipoprotein Lipase: Structure, Function, and Genetic VariationSemantic proximity Read ↗

Resequencing genomic DNA of patients with severe hypertriglyceridemia (MIM 144650).Semantic proximity Read ↗

Genetics of Hypertriglyceridemia.Semantic proximity Read ↗

Genetic Determinants of Severe Hypertriglyceridemia: Rare Variants in LPL, APOC2, APOA5, GPIHBP1, LMF1, APOE and Polygenic Risk.Semantic proximity Read ↗

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.Semantic proximity Read ↗

Genetic bases of hypertriglyceridemic phenotypes.Semantic proximity Read ↗

Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia.Semantic proximity Read ↗

Lipoprotein lipase gene sequencing and plasma lipid profile.Semantic proximity Read ↗

Molecular and functional characterization of familial chylomicronemia syndrome.Semantic proximity Read ↗

Genetic Variants in Severe Hypertriglyceridemia Among Taiwanese Participants - Insights From Genome-Wide Association and Whole-Exome Sequencing Analyses.Semantic proximity Read ↗

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