Varaico: Literature-Extracted Genetic Variants

Gene:GPIHBP1
Variant:p.Q115P
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GPIHBP1

NM_178172.6:p.Q115P

Associated Papers

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Anlas O et al.

Biochemical Genetics, 2025

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

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

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

Upadhyay G

Frontiers in Immunology, 2019

Update on the molecular biology of dyslipidemias.

Ramasamy I

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016

Evidence for Two Distinct Binding Sites for Lipoprotein Lipase on Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1).

Reimund M et al.

The Journal of Biological Chemistry, 2015

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

Beigneux AP et al.

Circulation Research, 2015

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

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

Structural and functional analysis of APOA5 mutations identified in patients with severe hypertriglyceridemia.

Mendoza-Barberá E et al.

Journal of Lipid Research, 2013

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

Yamamoto H et al.

Journal of Atherosclerosis and Thrombosis, 2013

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Surendran RP et al.

Journal of Internal Medicine, 2012

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

Type 1 hyperlipoproteinemia and recurrent acute pancreatitis due to lipoprotein lipase antibody in a young girl with Sjogren's syndrome.

Ashraf AP et al.

The Journal of Clinical Endocrinology and Metabolism, 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

Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation.

Coca-Prieto I et al.

Journal of Internal Medicine, 2011

Assessing the role of the glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 (GPIHBP1) three-finger domain in binding lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2011

Binding preferences for GPIHBP1, a glycosylphosphatidylinositol-anchored protein of capillary endothelial cells.

Gin P et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 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

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene.

Avis HJ et al.

Clinical Genetics, 2010

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

Franssen R et al.

Circulation. Cardiovascular Genetics, 2010

Highly conserved cysteines within the Ly6 domain of GPIHBP1 are crucial for the binding of lipoprotein lipase.

Beigneux AP et al.

The Journal of Biological Chemistry, 2009

Inherited lipodystrophies and hypertriglyceridemia.

Simha V et al.

Current Opinion in Lipidology, 2009

Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase.

Beigneux AP et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2009

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

GPIHBP1 autoantibodies in a patient with unexplained chylomicronemia.

Hu X 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."