Modulation of phenotypic expression of APOA5 Q97X and L242P mutations.

[1]  N. Delsaux,et al.  Effects of Six APOA5 Variants, Identified in Patients With Severe Hypertriglyceridemia, on In Vitro Lipoprotein Lipase Activity and Receptor Binding , 2008, Arteriosclerosis, thrombosis, and vascular biology.

[2]  S. Yusuf,et al.  APOA5 genetic variants are markers for classic hyperlipoproteinemia phenotypes and hypertriglyceridemia , 2008, Nature Clinical Practice Cardiovascular Medicine.

[3]  M. Navarro,et al.  Interaction between APOA5 -1131T>C and APOE polymorphisms and their association with severe hypertriglyceridemia. , 2008, Clinica chimica acta; international journal of clinical chemistry.

[4]  P. Moulin,et al.  Association of APOA5 -1131T>C and S19W gene polymorphisms with both mild hypertriglyceridemia and hyperchylomicronemia in type 2 diabetic patients. , 2008, Clinica chimica acta; international journal of clinical chemistry.

[5]  P. Talmud,et al.  The functional interaction on in vitro gene expression of APOA5 SNPs, defining haplotype APOA52, and their paradoxical association with plasma triglyceride but not plasma apoAV levels. , 2008, Biochimica et biophysica acta.

[6]  S. Bertolini,et al.  Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A‐V deficiency due to a novel mutation in the APOA5 gene , 2008, Journal of internal medicine.

[7]  L. Pennacchio,et al.  In vivo characterization of human APOA5 haplotypes. , 2007, Genomics.

[8]  S. Yusuf,et al.  Resequencing Genomic DNA of Patients With Severe Hypertriglyceridemia (MIM 144650) , 2007, Arteriosclerosis, thrombosis, and vascular biology.

[9]  P. Talmud,et al.  Evidence for a complex relationship between apoA-V and apoC-III in patients with severe hypertriglyceridemia Published, JLR Papers in Press, July 21, 2006. , 2006, Journal of Lipid Research.

[10]  Gang Wu,et al.  Identification of lipid binding and lipoprotein lipase activation domains of human apoAV. , 2006, Chemistry and physics of lipids.

[11]  S. Bertolini,et al.  A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. , 2006, Atherosclerosis.

[12]  P. Talmud,et al.  Apolipoprotein A-V, triglycerides and risk of coronary artery disease: the prospective Epic-Norfolk Population Study Published, JLR Papers in Press, June 12, 2006. , 2006, Journal of Lipid Research.

[13]  P. Talmud,et al.  The apolipoprotein A-V genotype and plasma apolipoprotein A-V and triglyceride levels: prospective risk of type 2 diabetes. Results from the Northwick Park Heart Study II , 2006, Diabetologia.

[14]  Anushya Muruganujan,et al.  Applications for protein sequence–function evolution data: mRNA/protein expression analysis and coding SNP scoring tools , 2006, Nucleic Acids Res..

[15]  C. Lam,et al.  Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. , 2006, Clinica chimica acta; international journal of clinical chemistry.

[16]  L. Pennacchio,et al.  Apoa5 Q139X truncation predisposes to late-onset hyperchylomicronemia due to lipoprotein lipase impairment. , 2005, The Journal of clinical investigation.

[17]  U. Seedorf,et al.  Polymorphisms in the apolipoprotein A5 (APOA5) gene and type III hyperlipidemia , 2005, Clinical genetics.

[18]  P. Talmud,et al.  Determination of the Functionality of Common APOA5 Polymorphisms* , 2005, Journal of Biological Chemistry.

[19]  S. Nilsson,et al.  Apolipoprotein A-V-heparin Interactions , 2005, Journal of Biological Chemistry.

[20]  J. Hubacek,et al.  Hypertriglyceridemia: interaction between APOE and APOAV variants. , 2005, Clinical chemistry.

[21]  L. Pennacchio,et al.  Apolipoprotein AV Accelerates Plasma Hydrolysis of Triglyceriderich Lipoproteins by Interaction with Proteoglycan-bound Lipoprotein Lipase* , 2005, Journal of Biological Chemistry.

[22]  A. Cantafora,et al.  Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia , 2004, Arteriosclerosis, thrombosis, and vascular biology.

[23]  M. Perugini,et al.  Structural features of apolipoprotein B synthetic peptides that inhibit lipoprotein(a) assembly Published, JLR Papers in Press, September 16, 2004. DOI 10.1194/jlr.M400163-JLR200 , 2004, Journal of Lipid Research.

[24]  M. Olivier,et al.  Haplotype analysis of the apolipoprotein gene cluster on human chromosome 11. , 2004, Genomics.

[25]  Hetal N. Patel,et al.  Linkage and Association Between Distinct Variants of the APOA1/C3/A4/A5 Gene Cluster and Familial Combined Hyperlipidemia , 2004, Arteriosclerosis, thrombosis, and vascular biology.

[26]  J. Shaw,et al.  Follow-up report on the diagnosis of diabetes mellitus. , 2003, Diabetes care.

[27]  J. W. Gallagher,et al.  Structure and Interfacial Properties of Human Apolipoprotein A-V* , 2003, Journal of Biological Chemistry.

[28]  Steven Henikoff,et al.  SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[29]  M. Olivier,et al.  Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides. , 2002, Human molecular genetics.

[30]  Jonathan C. Cohen,et al.  Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels. , 2002, Human molecular genetics.

[31]  Jonathan C. Cohen,et al.  An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing , 2001, Science.

[32]  Warren C. Lathe,et al.  Prediction of deleterious human alleles. , 2001, Human molecular genetics.

[33]  C. Scriver.  The Metabolic and Molecular Bases of Inherited Disease , 2001 .

[34]  P. Moulin,et al.  Severe hypertriglyceridaemia in Type II diabetes: involvement of apoC-III Sst-I polymorphism, LPL mutations and apo E3 deficiency , 2000, Diabetologia.

[35]  P. Talmud,et al.  Apolipoprotein C-III gene variation and dyslipidaemia. , 1997, Current opinion in lipidology.

[36]  S. Haffner,et al.  A Prospective Analysis of the HOMA Model: The Mexico City Diabetes Study , 1996, Diabetes Care.

[37]  R. Gregg,et al.  APOLIPOPROTEIN E ALLELES IN SEVERE HYPERTRIGLYCERIDAEMIA , 1983, The Lancet.

[38]  Walker Fa.  Letter: Intravenous feeding. , 1974, Lancet.

[39]  N. Unwin,et al.  Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (Adult Treatment Panel III) Detection, Evaluation, and Treatment of High Blood Cholesterol Education Program (NCEP) Expert Panel on Executive Summary of the Third Report of the National , 2009 .

[40]  K. V. van Dijk,et al.  Plasma apoAV levels are markedly elevated in severe hypertriglyceridemia and positively correlated with the APOA5 S19W polymorphism. , 2007, Atherosclerosis.

[41]  R. Eckel,et al.  Lipoprotein lipase: genetics, lipid uptake, and regulation. , 2002, Journal of lipid research.

[42]  J. Brunzell.  Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome , 1989 .