Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.C65S
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GPIHBP1

NM_178172.6:p.C65S

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

Emerging Role of Lymphocyte Antigen-6 Family of Genes in Cancer and Immune Cells.

Upadhyay G

Frontiers in Immunology, 2019

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

Beigneux AP et al.

Circulation Research, 2015

The g.-469G>A polymorphism in the GPIHBP1 gene promoter is associated with hypertriglyceridemia and has an additive effect on the risk conferred by LPL defective alleles.

Guay SP et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2013

Deletion of GPIHBP1 causing severe chylomicronemia.

Rios JJ et al.

Journal of Inherited Metabolic Disease, 2012

Allelic and phenotypic spectrum of plasma triglycerides.

Johansen CT et al.

Biochimica Et Biophysica Acta, 2012

Comparative studies of glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1: evidence for a eutherian mammalian origin for the GPIHBP1 gene from an LY6-like gene.

Holmes RS et al.

3 Biotech, 2012

GPIHBP1, an endothelial cell transporter for lipoprotein lipase.

Young SG et al.

Journal of Lipid Research, 2011

GPIHBP1 and the processing of triglyceride-rich lipoproteins.

Beigneux AP

Clinical Lipidology, 2010

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia.

Olivecrona G et al.

Journal of Lipid Research, 2010

Chylomicronemia with low postheparin lipoprotein lipase levels in the setting of GPIHBP1 defects.

Franssen R et al.

Circulation. Cardiovascular Genetics, 2010

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

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

Patni N 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."