Search Results - "Berge, K. E."

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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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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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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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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Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in Adjacent ABC Transporters by Berge, Knut E., Tian, Hui, Graf, Gregory A., Yu, Liqing, Grishin, Nick V., Schultz, Joshua, Kwiterovich, Peter, Shan, Bei, Barnes, Robert, Hobbs, Helen H.

“…In healthy individuals, acute changes in cholesterol intake produce modest changes in plasma cholesterol levels. A striking exception occurs in sitosterolemia,…”
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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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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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A DNA polymorphism at the angiotensin II type 1 receptor (AT1R) locus and myocardial infarction by Berge, K. E., Bakken, A., Bøhn, M., Erikssen, J., Berg, K.

“…Two hundred and thirty‐five survivors of myocardial infarction (MI) were compared to 384 controls with respect to distribution of genotypes and gene…”
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Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels by Hubácek, J A, Berge, K E, Stefková, J, Pitha, J, Skodová, Z, Lánská, V, Poledne, R

“…ABCG5 and ABCG8 transporters play an important role in the absorption and excretion of sterols. Missence polymorphisms (Gln604Glu in the ABCG5 and Asp19His,…”
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Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and myocardial infarction by Bøhn, M, Berge, K E, Bakken, A, Erikssen, J, Berg, K

“…Male (n = 185) and female (n = 49) survivors of myocardial infarction (MI) below 56 and 61 years of age, respectively, were compared to 366 controls with…”
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Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure by Berge, KE, Berg, K.

“…The M235T polymorphism at the angiotensinogen (AGT) locus and the A1166C polymorphism at the angiotensin II type 1 receptor (AT1R) locus have been reported to…”
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Detection of mRNA for the terminal complement components C5, C6, C8 and C9 in human umbilical vein endothelial cells in vitro by LANGEGGEN, H., BERGE, K. E., MACOR, P., FISCHETTI, F., TEDESCO, F., HETLAND, G., BERG, K., JOHNSON, E.

“…Human umbilical vein endothelial cells (HUVEC) have previously been shown to synthesize the functional terminal pathway of complement based on the detection by…”
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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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No effect of insertion/deletion polymorphism at the ACE locus on normal blood pressure level or variability by Berge, K E, Berg, K

“…Angiotensin I-converting enzyme (ACE) cleaves angiotensin I to angiotensin II, which is the active component in the renin-angiotensin system (RAS). We have…”
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Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia by Hubacek, Jaroslav A., Berge, Knut E., Cohen, Jonathan C., Hobbs, Helen H.

“…Sitosterolemia is an autosomal recessive disorder caused by mutations in two adjacent genes encoding coordinately regulated ATP binding cassette (ABC) half…”
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Cardiovascular risk factors in people with different genotypes in the insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE) by Berge, K. E., Berg, K.

“…The deletion (D) allele of an insertion/deletion (I/D) polymorphism at the locus for angiotensin I‐converting enzyme (ACE) has been reported to be an…”
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Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction by Bøhn, M, Berge, K E, Bakken, A, Erikssen, J, Berg, K

“…One hundred and eighty-one male and 48 female myocardial infarction (MI) survivors and 172 male and 194 female controls were studied with respect to a possible…”
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Analyses of mutations in the human renal kallikrein (hKLKl) gene and their possible relevance to blood pressure regulation and risk of myocardial infarction by Berge, K. E., Bakken, A., Bøhn, M., Erikssen, J., Berg, K.

“…The kallikrein‐kinin system is involved in the maintenance of blood pressure (BP), and studies have shown an inverse correlation between BP and urinary…”
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Studies on effects of Lp(a) lipoprotein on gene expression in endothelial cells in vitro by Berge, K. E., Djurovic, S., Muller, H. J., Alestrøm, P., Berg, K.

“…The reason(s) for the atherogenic properties of Lp(a) lipoprotein is still unclear, and several mechanisms have been studied. Alterations in gene expression in…”
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No effect on blood pressure level or variability of polymorphisms in DNA at the locus for atrial natriuretic factor (ANF) by Berge, K E, Berg, K

“…We have examined healthy Norwegians with respect to two restriction fragment length polymorphisms at the locus for atrial natriuretic factor, detectable with…”
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