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

[1]  S. Bertolini,et al.  A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene. , 2015, Journal of clinical lipidology.

[2]  S. Young,et al.  GPIHBP1 Missense Mutations Often Cause Multimerization of GPIHBP1 and Thereby Prevent Lipoprotein Lipase Binding , 2015, Circulation research.

[3]  W. März,et al.  Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants , 2015, European Journal of Human Genetics.

[4]  Z. Ahmad,et al.  Familial chylomicronemia syndrome and response to medium-chain triglyceride therapy in an infant with novel mutations in GPIHBP1. , 2014, Journal of clinical lipidology.

[5]  N. Ewald,et al.  Current knowledge of hypertriglyceridemic pancreatitis. , 2014, European journal of internal medicine.

[6]  J. Lupski,et al.  Whole-Exome Sequencing Reveals GPIHBP1 Mutations in Infantile Colitis With Severe Hypertriglyceridemia , 2014, Journal of pediatric gastroenterology and nutrition.

[7]  S. Young,et al.  Multimerization of Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1) and Familial Chylomicronemia from a Serine-to-Cysteine Substitution in GPIHBP1 Ly6 Domain* , 2014, The Journal of Biological Chemistry.

[8]  K. Retterstøl,et al.  Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene. , 2014, Atherosclerosis.

[9]  Y. Matsuzawa,et al.  Novel combined GPIHBP1 mutations in a patient with hypertriglyceridemia associated with CAD. , 2013, Journal of atherosclerosis and thrombosis.

[10]  S. Young,et al.  Glycosylphosphatidylinositol‐anchored high‐density lipoprotein‐binding protein 1 and the intravascular processing of triglyceride‐rich lipoproteins , 2012, Journal of internal medicine.

[11]  R. Hegele,et al.  Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia , 2012, Journal of internal medicine.

[12]  M. Taskinen,et al.  Transgenic Expression and Genetic Variation of Lmf1 Affect LPL Activity in Mice and Humans , 2012, Arteriosclerosis, thrombosis, and vascular biology.

[13]  R. Fresa,et al.  Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia. , 2011, Clinica chimica acta; international journal of clinical chemistry.

[14]  Jonathan C. Cohen,et al.  Deletion of GPIHBP1 causing severe chylomicronemia , 2011, Journal of Inherited Metabolic Disease.

[15]  K. Gomes,et al.  Apolipoprotein A5-1131T>C polymorphism, but not APOE genotypes, increases susceptibility for dyslipidemia in children and adolescents , 2011, Molecular Biology Reports.

[16]  G. Olivecrona,et al.  Childhood‐onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation , 2011, Journal of internal medicine.

[17]  E. Lefai,et al.  GPIHBP1 C89F neomutation and hydrophobic C-terminal domain G175R mutation in two pedigrees with severe hyperchylomicronemia. , 2011, The Journal of clinical endocrinology and metabolism.

[18]  S. Young,et al.  Assessing the Role of the Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1) Three-finger Domain in Binding Lipoprotein Lipase* , 2011, The Journal of Biological Chemistry.

[19]  Flora Peyvandi,et al.  Strong association of the APOA5-1131T>C gene variant and early-onset acute myocardial infarction. , 2011, Atherosclerosis.

[20]  J. Aberle,et al.  Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia. , 2011, Atherosclerosis.

[21]  M. Guardiola,et al.  The apolipoprotein A5 (APOA5) gene predisposes Caucasian children to elevated triglycerides and vitamin E (Four Provinces Study). , 2010, Atherosclerosis.

[22]  M. Hayden,et al.  Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia , 2010, Journal of Lipid Research.

[23]  S. Young,et al.  Chylomicronemia With Low Postheparin Lipoprotein Lipase Levels in the Setting of GPIHBP1 Defects , 2010, Circulation. Cardiovascular genetics.

[24]  G. Olivecrona,et al.  Lipoprotein lipase activity and mass, apolipoprotein C-II mass and polymorphisms of apolipoproteins E and A5 in subjects with prior acute hypertriglyceridaemic pancreatitis , 2009, BMC gastroenterology.

[25]  S. Young,et al.  Chylomicronemia With a Mutant GPIHBP1 (Q115P) That Cannot Bind Lipoprotein Lipase , 2009, Arteriosclerosis, thrombosis, and vascular biology.

[26]  S. Young,et al.  GPIHBP1 and lipolysis: an update , 2009, Current opinion in lipidology.

[27]  R. Hegele,et al.  Homozygous missense mutation (G56R) in glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 (GPI-HBP1) in two siblings with fasting chylomicronemia (MIM 144650) , 2007, Lipids in Health and Disease.

[28]  S. Young,et al.  GPIHBP1: an endothelial cell molecule important for the lipolytic processing of chylomicrons , 2007, Current opinion in lipidology.

[29]  S. Young,et al.  Glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1 plays a critical role in the lipolytic processing of chylomicrons. , 2007, Cell metabolism.

[30]  Li Li,et al.  A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis. , 2006, Biochemical and biophysical research communications.

[31]  H. Brewer,et al.  An initiation codon mutation in the apoC-II gene (apoC-II Paris) of a patient with a deficiency of apolipoprotein C-II. , 1989, The Journal of biological chemistry.

[32]  M. Kozak An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. , 1987, Nucleic acids research.

[33]  M. Okubo,et al.  Apolipoprotein C-II Tuzla: a novel large deletion in APOC2 caused by Alu-Alu homologous recombination in an infant with apolipoprotein C-II deficiency. , 2015, Clinica chimica acta; international journal of clinical chemistry.

[34]  S. Yamashita,et al.  Diagnosis and management of type I and type V hyperlipoproteinemia. , 2012, Journal of atherosclerosis and thrombosis.