Search Results - "Pimstone, S. N."

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations by Goldberg, YP, MacFarlane, J, MacDonald, ML, Thompson, J, Dube, M-P, Mattice, M, Fraser, R, Young, C, Hossain, S, Pape, T, Payne, B, Radomski, C, Donaldson, G, Ives, E, Cox, J, Younghusband, HB, Green, R, Duff, A, Boltshauser, E, Grinspan, GA, Dimon, JH, Sibley, BG, Andria, G, Toscano, E, Kerdraon, J, Bowsher, D, Pimstone, SN, Samuels, ME, Sherrington, R, Hayden, MR

“…Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We…”
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Human Mendelian pain disorders: a key to discovery and validation of novel analgesics by Goldberg, YP, Pimstone, SN, Namdari, R, Price, N, Cohen, C, Sherrington, RP, Hayden, MR

“…We have utilized a novel application of human genetics, illuminating the important role that rare genetic disorders can play in the development of novel drugs…”
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Genetic aspects of restenosis after percutaneous coronary interventions;towards more tailored therapy by Agema, W. R. P., Jukema, J. W., Pimstone, S. N., Kastelein, J. J. P.

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A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study by Gagné, Se, Larson, Mg, Pimstone, Sn, Schaefer, Ej, Kastelein, Jjp, Wilson, Pwf, Ordovas, Jm, Hayden, Mr

“…Genetic variation at the lipoprotein lipase (LPL) locus has been shown to influence plasma lipids and to modulate risk of coronary heart disease (CHD)…”
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Phenotypic Variation in Heterozygous Familial Hypercholesterolemia: A Comparison of Chinese Patients With the Same or Similar Mutations in the LDL Receptor Gene in China or Canada by Pimstone, Simon N, Sun, Xi-Ming, du Souich, Christele, Frohlich, Jiri J, Hayden, Michael R, Soutar, Anne K

“…Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene and is usually associated with hypercholesterolemia, lipid deposition…”
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A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia by WITTEKOEK, M. E, PIMSTONE, S. N, REYMER, P. W. A, FEUTH, L, BOTMA, G.-J, DEFESCHE, J. C, PRINS, M, HAYDEN, M. R, KASTELEIN, J. J. P

“…Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with…”
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A Frequent Mutation in the Lipoprotein Lipase Gene (D9N) Deteriorates the Biochemical and Clinical Phenotype of Familial Hypercholesterolemia by Wittekoek, Marianne E, Moll, Etelka, Pimstone, Simon N, Trip, Mieke D, Lansberg, Peter J, Defesche, Joep C, van Doormaal, Jasper J, Hayden, Michael R, Kastelein, John J.P

“…The D9N substitution is a common mutation in the lipoprotein lipase (LPL) gene. This mutation has been associated with reduced levels of HDL cholesterol and…”
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Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women by Kastelein, John Jp, Ordovas, Jose M, Wittekoek, Marianne E, Pimstone, Simon N, Wilson, Peter Wf, Gagné, S Eric, Larson, Martin G, Schaefer, Ernest J, Boer, Jolanda Ma, Gerdes, Christian, Hayden, Michael R

“…We assessed the effect of two common mutations in the lipoprotein lipase gene (LPL), D9N and N291S, which have been shown to modulate plasma lipids in a wide…”
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A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers by Pimstone, S N, Clee, S M, Gagné, S E, Miao, L, Zhang, H, Stein, E A, Hayden, M R

“…An Asn291Ser mutation in exon 6 of the lipoprotein lipase gene (LPL) frequently occurs in Caucasians (2-4%) and results in a partial catalytic defect. Although…”
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Ethnic Variation and In Vivo Effects of the -93t [right arrow] g Promoter Variant in the Lipoprotein Lipase Gene by Ehrenborg, Ewa, Clee, Susanne M, Pimstone, Simon N, Reymer, Paul W.A, Benlian, Pascale, Hoogendijk, Christiaan F, Davis, Henry J, Bissada, Nagat, Miao, Li, Gagne, S. Eric, Greenberg, L. Jacquie, Henry, Ronald, Henderson, Howard, Ordovas, Jose M, Schaefer, Ernst J, Kastelein, Johannes J.P, Kotze, Maritha J, Hayden, Michael R

“…Recently, a (t [right arrow] g) transition at nucleotide -93 in the lipoprotein lipase (LPL) gene promoter has been observed in Caucasians. Here, we have…”
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Differences in the Phenotype Between Children With Familial Defective Apolipoprotein B-100 and Familial Hypercholesterolemia by Pimstone, Simon N, Defesche, Joep C, Clee, Susanne M, Bakker, Henk D, Hayden, Michael R, Kastelein, John J.P

“…Familial defective apolipoprotein B-100 (FDB) is a dominantly inherited genetic disorder resulting from a point mutation in the apolipoprotein (apo) B gene and…”
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Mutations in the Gene for Lipoprotein Lipase: A Cause for Low HDL Cholesterol Levels in Individuals Heterozygous for Familial Hypercholesterolemia by Pimstone, Simon N, Gagne, S. Eric, Gagne, Claude, Lupien, Paul J, Gaudet, Daniel, Williams, Roger R, Kotze, Maritha, Reymer, Paul W.A, Defesche, Joep C, Kastelein, John J.P, Moorjani, Sital, Hayden, Michael R

“…Familial hypercholesterolemia (FH) is characterized by elevated plasma concentrations of LDL cholesterol resulting from mutations in the gene for the LDL…”
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Clinical and radiological testing for subclinical atherosclerosis in first-degree relatives of patients with premature coronary artery disease: feasibility and diagnostic yield by Vikulova, D, Bevanda, L, Pimstone, S N, Brunham, L R

“…Abstract Background Premature atherosclerotic cardiovascular disease (ASCVD) is highly heritable. The screening of first-degree relatives (FDR) of patients…”
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Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele by Abdel-Wareth, Laila O, Pimstone, Simon N, Lagarde, Jean-Pierre, Raisonnier, Alain, Benlian, Pascale, Pritchard, Haydn, Hayden, Michael R, Frohlich, Jiri J

“…Familial defective apo B-100 (FDB) is an autosomal dominant condition resulting in hypercholesterolemia. It is generally observed in 1–6% of…”
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The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia by Emsley, Robin A., Niehaus, Dana J.H., Mbanga, N.Irene, Oosthuizen, Piet P., Stein, Dan J., Maritz, J.Stephan, Pimstone, Simon N., Hayden, Michael R., Laurent, Claudine, Deleuze, Jean-Francois, Mallet, Jacques

“…Most studies investigating the symptom dimensions of schizophrenia utilising the Scale for the Assessment of Negative Symptoms (SANS) and the Scale for the…”
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Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population by McGladdery, Sandra H., Pimstone, Simon N., Clee, Susanne M., Bowden, J.Francois, Hayden, Michael R., Frohlich, Jiri J.

“…Background: favorable lipid profiles including low total serum cholesterol (TC), TC/HDL-cholesterol (HDL-C) ratio and elevated HDL-C levels have been…”
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Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy by Samuels, Mark E, Guernsey, Duane L, Zheng, Binyou, Zhang, Lin-Hua, Kaykas, Ajamete, Hayden, Michael R, MacDonald, Marcia L.E, Dubé, Marie-Pierre, Singaraja, Roshni R, Siebert, Lee F, Shastry, Barkur S, Moon, Randall T, Zeisler, Jutta, Pimstone, Simon N, Trese, Michael T, Goldberg, Y. Paul, Sheldahl, Laird C, Hoskin-Mott, Ann, Robitaille, Johane

“…Familial exudative vitreoretinopathy (FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Loci associated…”
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Identification of a Novel Gene ( HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates by Lafrenière, Ronald G., MacDonald, Marcia L.E., Dubé, Marie-Pierre, MacFarlane, Julie, O’Driscoll, Mary, Brais, Bernard, Meilleur, Sébastien, Brinkman, Ryan R., Dadivas, Owen, Pape, Terry, Platon, Christèle, Radomski, Chris, Risler, Jenni, Thompson, Jay, Guerra-Escobio, Ana-Maria, Davar, Gudarz, Breakefield, Xandra O., Pimstone, Simon N., Green, Roger, Pryse-Phillips, William, Goldberg, Y. Paul, Younghusband, H. Banfield, Hayden, Michael R., Sherrington, Robin, Rouleau, Guy A., Samuels, Mark E.

“…Hereditary sensory and autonomic neuropathy (HSAN) type II is an autosomal recessive disorder characterized by impairment of pain, temperature, and touch…”
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Loss-of-function mutations in the Na sub(v)1.7 gene underlie congenital indifference to pain in multiple human populations by Goldberg, Y P, MacFarlane, J, MacDonald, M L, Thompson, J, Dube, M-P, Mattice, M, Fraser, R, Young, C, Hossain, S, Pape, T, Payne, B, Radomski, C, Donaldson, G, Ives, E, Cox, J, Younghusband, H B, Green, R, Duff, A, Boltshauser, E, Grinspan, G A, Dimon, J H, Sibley, B G, Andria, G, Toscano, E, Kerdraon, J, Bowsher, D, Pimstone, S N, Samuels, ME, Sherrington, R, Hayden, M R

“…Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We…”
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Loss‐of‐function mutations in the Na v 1.7 gene underlie congenital indifference to pain in multiple human populations by Goldberg, YP, MacFarlane, J, MacDonald, ML, Thompson, J, Dube, M‐P, Mattice, M, Fraser, R, Young, C, Hossain, S, Pape, T, Payne, B, Radomski, C, Donaldson, G, Ives, E, Cox, J, Younghusband, HB, Green, R, Duff, A, Boltshauser, E, Grinspan, GA, Dimon, JH, Sibley, BG, Andria, G, Toscano, E, Kerdraon, J, Bowsher, D, Pimstone, SN, Samuels, ME, Sherrington, R, Hayden, MR

“…Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We…”
Get full text