Search Results - "Leren, T. P."

The unique role of proprotein convertase subtilisin/kexin 9 in cholesterol homeostasis by Mousavi, S. A., Berge, K. E., Leren, T. P.

“… The LDL receptor (LDLR) plays an essential role in the regulation of plasma (LDL) cholesterol concentrations by virtue of its ability to clear plasma LDL…”
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Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia by Leren, TP

“…Proprotein convertase subtilisin/kexin type 9 (PCSK9) is at a locus for autosomal dominant hypercholesterolemia, and recent data indicate that the PCSK9 gene…”
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Cascade genetic screening for familial hypercholesterolemia by Leren, TP

“…Familial hypercholesterolemia (FH) is caused by a mutation in the low‐density lipoprotein receptor gene and is characterized by hypercholesterolemia,…”
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Characterization of novel mutations in the catalytic domain of the PCSK9 gene by Cameron, J., Holla, Ø. L., Laerdahl, J. K., Kulseth, M. A., Ranheim, T., Rognes, T., Berge, K. E., Leren, T. P.

“… Objectives.  To expand our understanding of the structure and function of proprotein convertase subtilisin/kexin type 9 (PCSK9) by studying how naturally…”
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Genetics of hypertrophic cardiomyopathy in Norway by Berge, K.E., Leren, T.P.

“…Genetic testing for hypertrophic cardiomyopathy (HCM) became available in Norway in 2003. Here, we describe the results of this testing in probands with HCM…”
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Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy by Larsen, M.K, Nissen, P.H, Berge, K.E, Leren, T.P, Kristensen, I.B, Jensen, H.K, Banner, J

“…Abstract The aim of this investigation was to identify and characterise pathogenic mutations in a sudden cardiac death (SCD) cohort suspected of cardiomyopathy…”
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Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases by Larsen, M. K., Berge, K. E., Leren, T. P., Nissen, P. H., Hansen, J., Kristensen, I. B., Banner, J., Jensen, H. K.

“…The aim of this investigation was to identify pathogenic variants of the ryanodine receptor 2 ( RYR2 ) gene in a cohort of persons aged 0–40 years who died of…”
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Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers by Berge, K. E., Haugaa, K. H., Früh, A., Anfinsen, O.-G., Gjesdal, K., Siem, G., Øyen, N., Greve, G., Carlsson, A., Rognum, T. O., Hallerud, M., Kongsgård, E., Amlie, J. P., Leren, T. P.

“…Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell…”
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Risk Factors Related to Carotid Intima-Media Thickness and Plaque in Children With Familial Hypercholesterolemia and Control Subjects by Tonstad, Serena, Joakimsen, Oddmund, Stensland-Bugge, Eva, Leren, Trond P, Ose, Leiv, Russell, David, Bonaa, Kaare H

“…To assess the relationship between risk factors for cardiovascular disease and early atherosclerotic changes in the carotid artery, we measured carotid…”
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Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia by Caddeo, A., Mancina, R.M., Pirazzi, C., Russo, C., Sasidharan, K., Sandstedt, J., Maurotti, S., Montalcini, T., Pujia, A., Leren, T.P., Romeo, S., Pingitore, P.

“…Type I hyperlipoproteinemia, also known as familial chylomicronemia syndrome (FCS), is a rare autosomal recessive disorder caused by variants in LPL, APOC2,…”
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Molecular genetics of familial hypercholesterolaemia in Norway by LEREN, T. P., TONSTAD, S., GUNDERSEN, K. E., BAKKEN, K. S., RØDNINGEN, O. K., SUNDVOLD, H., OSE, L., BERG, K.

“…Objectives. To characterize mutations in the low density lipoprotein (LDL) receptor gene causing familial hypercholesterolaemia (FH) amongst Norwegian…”
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A Functional Polymorphism in the Promoter Region of the Microsomal Triglyceride Transfer Protein (MTP −493G/T) Influences Lipoprotein Phenotype in Familial Hypercholesterolemia by Lundahl, Björn, Leren, Trond P, Ose, Leiv, Hamsten, Anders, Karpe, Fredrik

“…The microsomal triglyceride transfer protein (MTP) has a key function in intracellular apolipoprotein (apo) B lipidation and secretion of very low density…”
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Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene? by Leren, T P, Hjermann, I

“…Lovastatin is one of the most commonly used lipid-lowering drugs in familial hypercholesterolaemia (FH) heterozygotes. In order to study whether the response…”
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High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening by Haugaa, Kristina Hermann, Leren, Ida Skrinde, Berge, Knut Erik, Bathen, Jørn, Loennechen, Jan Pål, Anfinsen, Ole-Gunnar, Früh, Andreas, Edvardsen, Thor, Kongsgård, Erik, Leren, Trond P., Amlie, Jan P.

“…Aim Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited cardiac disease predisposing to life-threatening arrhythmias. We aimed to…”
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Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects by Tonstad, S, Joakimsen, O, Stensland-Bugge, E, Ose, L, Bønaa, K H, Leren, T P

“…Background In individuals with familial hypercholesterolaemia (FH), ultrasonographic measurement of carotid intima–media thickness (IMT) and plaque may provide…”
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Does maternal or paternal heredity affect carotid atherosclerosis in children with familial hypercholesterolaemia? by Tonstad, S, Joakimsen, O, Leren, TP, Ose, L

“…Maternal hypercholesterolaemia has recently been shown to increase the number of fatty streaks in the foetal aorta, as well as subsequent progression of fatty…”
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Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia by LEREN, T. P, BAKKEN, K. S, HOEL, V, HJERMANN, I, BERG, K

“…In this study we have performed analyses of apolipoprotein (apo) B at both the protein and gene level to search for mutations of the apoB gene causing…”
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Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads by Leren, T P, Rødningen, O K, Røsby, O, Solberg, K, Berg, K

“…We have established an improved method for detecting point mutations by semi-automated DNA sequencing of PCR fragments generated from genomic DNA. The method…”
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Application of long polymerase chain reaction in the study of the LDL receptor gene by Rødningen, O K, Leren, T P

“…In this report we have applied an improved method of the polymerase chain reaction (PCR) in order to detect structural aberrations and point mutations in the…”
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Characterization of a human apolipoprotein E gene enhancer element and its associated protein factors by CHANG, D. J, PAIK, Y.-K, LEREN, T. P, WALKER, D. W, HOWLETT, G. J, TAYLOR, J. M

“…An enhancer element in the 5' flanking region of the human apolipoprotein E gene, known as upstream regulatory element 1 (URE1), has previously been implicated…”
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