Associated Papers
Heterogeneous nature of severe hypertriglyceridemia in childhood.
Ariza MJ et al.
Journal of Clinical Lipidology, 2026
Contemporary Management of Familial and Multifactorial Chylomicronemia Syndromes in Italy: Insights From the National LIPIGEN Registry.
D'Erasmo L et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2025
Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.
Mendes C et al.
Molecular Genetics and Metabolism Reports, 2024
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
Analyses of familial chylomicronemia syndrome in Pereira, Colombia 2010-2020: a cross-sectional study.
Rodriguez FH et al.
Lipids in Health and Disease, 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
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child.
Mor-Shaked H et al.
European Journal of Human Genetics : Ejhg, 2021
High-depth African genomes inform human migration and health.
Choudhury A et al.
Nature, 2020
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver.
Çalışkan M et al.
American Journal of Human Genetics, 2019
GPIHBP1 missense mutations often cause multimerization of GPIHBP1 and thereby prevent lipoprotein lipase binding.
Beigneux AP et al.
Circulation Research, 2015
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
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
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
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.
Surendran RP et al.
Journal of Internal Medicine, 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
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
Molecular basis of the familial chylomicronemia syndrome in patients from the National Dyslipidemia Registry of the Spanish Atherosclerosis Society.
Ariza MJ et al.
Journal of Clinical Lipidology, 0
Extreme hypertriglyceridemia: Genetic diversity, pancreatitis, pregnancy, and prevalence.
Chyzhyk V et al.
Journal of Clinical Lipidology, 0