The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group

Autor: Kastelein, J. J., Groenemeyer, B. E., Hallman, D. M., Henderson, H., Reymer, P. W. A., Gagné, S. E., Jansen, H., jacob Seidell, Kromhout, D., Wouter Jukema, J., Bruschke, A. V. G., Boerwinkle, E., Hayden, M. R.

Publikováno v: Clinical genetics, 53(1), 27-33. Wiley-Blackwell
Clinical Genetics, 53(1), 27-33. Wiley-Blackwell
Vrije Universiteit Amsterdam
Kastelein, J J, Groenemeyer, B E, Hallman, D M, Henderson, H, Reymer, P W A, Gagné, S E, Jansen, H, Seidell, J C, Kromhout, D, Jukema, J W, Bruschke, A V G, Boerwinkle, E & Hayden, M R 1998, ' The Asn9 variant of lipoprotein lipase is associated with the-93G promoter mutation and an increased risk of coronary artery disease. The Regress Study Group ', Clinical Genetics, vol. 53, no. 1, pp. 27-33 .

Two mutations in the lipoprotein lipase (LPL) gene, a T to G transition at position -93 of the proximal promoter region and an Asp9Asn substitution in exon 2, were examined in 762 Dutch males with angiographically-diagnosed coronary artery disease (C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::247ca1bcd3e13d1e28ef287575aba54d
https://hdl.handle.net/1871.1/7aeee0f1-d665-417b-9346-5f0712d5504a

Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients.: The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group

Autor: Groenemeijer, B. E., Hallman, M. D., Reymer, P. W., Gagné, E., Kuivenhoven, J. A., Bruin, T., Jansen, H., Lie, K. I., Bruschke, A. V., Boerwinkle, E., Hayden, M. R., Kastelein, J. J.

Publikováno v: Circulation, 95(12), 2628-35. LIPPINCOTT WILLIAMS & WILKINS
Circulation, 95(12), 2628-2635. Lippincott Williams and Wilkins

BACKGROUND: Lipoprotein lipase (LPL) is the rate-limiting enzyme in the lipolysis of triglyceride-rich lipoproteins, and the gene coding for LPL is therefore a candidate gene in atherogenesis. We previously demonstrated that two amino acid substituti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::f575aead1f0cdbc4b944fe096b48276c
https://research.rug.nl/en/publications/f0e07fb0-ab49-4ddc-9ab6-249ffdb0006d

Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia

Autor: Defesche, J. C., Lansberg, P. J., Reymer, P. W., Lamping, R. J., Kastelein, J. J.

Publikováno v: Netherlands journal of medicine, 42(1-2), 53-60. Van Zuiden Communications BV

Familial hypercholesterolaemia (FH) is the most common genetic metabolic disorder, affecting about 1 in 500 persons in the general population. With novel techniques, it is possible to identify the molecular defects underlying FH in the gene coding fo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::30b42e3d5468e85b7a05aa47109ae93c
https://pure.amc.nl/en/publications/analysis-of-the-afrikaner-mutation-in-exon-9-of-the-lowdensity-lipoprotein-receptor-gene-in-a-large-dutch-kindred-suffering-from-familial-hypercholesterolaemia(0583e0c6-1c50-4d25-81c9-fbbaf13af781).html

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population

Autor: Defesche, J. C., Diermen, D. E., Lansberg, P. J., Lamping, R. J., Reymer, P. W. A., Hayden, M. R., Kastelein, J. J. P.

Publikováno v: Human Genetics; December 1993, Vol. 92 Issue: 6 p567-570, 4p

The lipoprotein lipase (Asn291-> Ser) mutation is associated with elevated lipid levels in families with familial combined hyperlipidaemia

Autor: Hoffer, M. J. V., Bredie, S. J. H., Boomsma, D. I., Reymer, P. W. A., Kastelein, J. J. P., Knijff, P. De, Demacker, P. N. M., Stalenhoef, A. F. H., Havekes, L. M., Frants, R. R.

Publikováno v: Atherosclerosis; 1996, Vol. 119 Issue: 2 p159-167, 9p