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

Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.

Journal of atherosclerosis and thrombosis - 1 Jan 2013

Yamamoto Hiroyasu, Onishi Misa, Miyamoto Naoko, Oki Ryosuke, Ueda Hiroyasu, Ishigami Masato, Hiraoka Hisatoyo, Matsuzawa Yuji, Kihara Shijin

Abstract excerpt

AIM: Lipoprotein lipase (LPL) deficiency is a rare autosomal recessive disorder characterized by severe hypertriglyceridemia. Similar clinical phenotypes have been reported with respect to defects in several LPL-associated proteins. However, it remains controversial whether severe hypertriglyceridemia itself is atherogenic. We herein present a case of LPL deficiency due to novel combined mutations of...

Read the complete abstract on PubMed

Topics

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

Share to Coronary Artery Disease
Share to GPI gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to LPL gene

Share to HEK293 Cells

Share to Hypertriglyceridemia

Share to Lipoprotein Lipase

Share to Mutation

Share to Receptors, Lipoprotein

Source

Identifiers

PMID: 23831619
DOI: 10.5551/jat.18861

Genes

LPL
GPIHBP1
CAD
GPI

Variants

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

Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD.PMID 23831619Read ↗

A novel homozygous variant in GPIHBP1: A case series of familial chylomicronemia syndrome from Colombia.Semantic proximity Read ↗

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.Semantic proximity Read ↗

A novel mutation in GPIHBP1 causes familial chylomicronemia syndrome.Semantic proximity Read ↗

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

The GPIHBP1-LPL complex and its role in plasma triglyceride metabolism: Insights into chylomicronemia.Semantic proximity Read ↗

A novel GPIHBP1 mutation related to familial chylomicronemia syndrome: A series of cases.Semantic proximity Read ↗

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemiaSemantic proximity Read ↗

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.Semantic proximity Read ↗

Understanding Hypertriglyceridemia: Integrating Genetic InsightsSemantic proximity Read ↗

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient.Semantic proximity Read ↗

Marked hypertriglyceridemia with a novel splicing mutation in GPIHBP1.Semantic proximity Read ↗

Mutations in lipoprotein lipase that block binding to the endothelial cell transporter GPIHBP1Semantic proximity Read ↗

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