Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C89F
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GPIHBP1

NM_178172.6:p.C89F

Associated Papers

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

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

Jiang S et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2023

Role of glycosylphosphatidylinositol-anchored high-density lipoprotein binding protein 1 in hypertriglyceridemia and diabetes.

Kurooka N et al.

Journal of Diabetes Investigation, 2023

A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.

Sustar U et al.

Frontiers in Genetics, 2022

Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.

Çalışkan M et al.

American Journal of Human Genetics, 2019

31204013 (PubMed )
Supplement: mmc3.pdf

Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Birrane G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

30559189 (PubMed )
Supplement: pnas.1817984116.sd01.xlsx › Simple

GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.

Beigneux AP et al.

Circulation Research, 2015

Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene.

Berge KE et al.

Atherosclerosis, 2014

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24788417 (PubMed )
Supplement: pone.0096482.s005.doc

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24886863 (PubMed )
Supplement: pone.0099721.s001.pdf

Identification and quantitative mRNA analysis of a novel splice variant of GPIHBP1 in dairy cattle.

Yang J et al.

Journal of Animal Science and Biotechnology, 2014

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

Yamamoto H et al.

Journal of Atherosclerosis and Thrombosis, 2013

Deletion of GPIHBP1 causing severe chylomicronemia.

Rios JJ et al.

Journal of Inherited Metabolic Disease, 2012

GPIHBP1, an endothelial cell transporter for lipoprotein lipase.

Young SG et al.

Journal of Lipid Research, 2011

GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia.

Charrière S et al.

The Journal of Clinical Endocrinology and Metabolism, 2011

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

Buonuomo PS et al.

Journal of Clinical Lipidology, 0

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

Ariza MJ et al.

Journal of Clinical Lipidology, 0

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

Rabacchi C et al.

Journal of Clinical Lipidology, 0

Type 1 hyperlipoproteinemia in a child with large homozygous deletion encompassing GPIHBP1.

Patni N et al.

Journal of Clinical Lipidology, 0

Comprehensive analysis of Chinese patients with non-LPL familial chylomicronemia syndrome: Genetic variants, dietary interventions, and clinical insights.

Gong Z et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."