Search Results - "PIMSTONE, S"

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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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 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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SCREENING FOR INHERITED DYSLIPIDEMIAS AND SUBCLINICAL ATHEROSCLEROSIS IN FIRST DEGREE RELATIVES OF PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE: DIAGNOSTIC YIELD AND IMPACT ON PATIENTS MANAGEMENT by Vikulova, D, Pimstone, S, Brunham, L

“…The screening of first-degree relatives (FDR) of patients with premature atherosclerotic cardiovascular disease (ASCVD) is recommended due to its high…”
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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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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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Trends in management of cardiovascular risk factors in young adults who go on to develop coronary artery disease by Vikulova, D, Lee, M, Pinheiro Muller, D, Pimstone, S, Brunham, L

“…Abstract Background Rates of premature coronary artery disease (CAD) have remained stagnant in many countries in the past two decades. While guidelines on…”
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INCIDENCE, RECURRENCE, AND ETHNICITY SPECIFIC RISK FACTORS FOR PREMATURE CORONARY ARTERY DISEASE IN SOUTH ASIANS AND CAUCASIANS by Malhi, N., Kang, M., Huang, K., Vikulova, D., Pimstone, S., Brunham, L.

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Investigating Risk Factor Profiles of Women with Early-Onset Presentation of Obstructive and Non-Obstructive Coronary Artery Syndromes by Théberge, E., Vikulova, D., Pimstone, S., Brunham, L., Humphries, K., Sedlak, T.

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ACCESS TO HEALTHCARE, PREVENTIVE LIPID-LOWERING THERAPY, AND CHARACTERISTICS AT PRESENTATION IN A CONTEMPORARY POPULATION OF YOUNG ADULTS WHO GO ON TO DEVELOP PREMATURE CORONARY ARTERY DISEASE by Vikulova, D., Lee, M., Muller, D Pinheiro, Sasse, E., Pimstone, S., Brunham, L.

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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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INCIDENCE, RECURRENCE, AND ETHNICITY SPECIFIC RISK FACTORS FOR PREMATURE CORONARY ARTERY DISEASE IN SOUTH ASIANS AND CAUCASIANS by Malhi, N., Kang, M., Huang, K., Vikulova, D., Pimstone, S., Brunham, L.

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GENETICALLY CONFIRMED FAMILIAL HYPERCHOLESTEROLEMIA IN PATIENTS WITH PREMATURE CORONARY ARTERY DISEASE by Vikulova, D., Trinder, M., Brown, C., Jackson, L., Pimstone, S., Brunham, L.

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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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PREMATURE ATHEROSCLEROTIC CARDIOVASCULAR DISEASE: CARDIOVASCULAR RISK AND PRIMARY PREVENTION ELIGIBILITY by Vikulova, D., Bitoiu, B., Ng, P., Brown, C., Pimstone, S., Brunham, L.

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P3412Risk factors, biomarkers and framingham risk estimate fail to identify presence of subclinical atherosclerosis in young individual with family history of premature coronary artery disease by Ghadiri, S, Leipsic, J, Elahi, N, Anastasius, M, Huang, A, Mugharbil, A, Brunham, L, Pimstone, S, Golmohammadzadeh, M, Thompson, C, Argulian, E, Narula, J, Ahmadi, A

“…Abstract Introduction Patients with family history of premature coronary artery disease (CAD) are at increased risk of CAD events at a younger age. Risk factor…”
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