Trond Paul Leren
- Senior researcher; MD, PhD
- +47 23026389
Publications 2024
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor
Atherosclerosis, 399, 118596 (in press)
DOI 10.1016/j.atherosclerosis.2024.118596, PubMed 39500114
Flavonoids regulate LDLR through different mechanisms tied to their specific structures
J Lipid Res, 65 (5), 100539
DOI 10.1016/j.jlr.2024.100539, PubMed 38556050
Molecular genetics in 1991 arrhythmia probands and 2782 relatives in Norway: Results from 17 years of genetic testing in a national laboratory
Clin Genet, 106 (5), 585-602
DOI 10.1111/cge.14593, PubMed 39073097
Publications 2023
Missense mutation Q384K in the APOB gene affecting the large lipid transfer module of apoB reduces the secretion of apoB-100 in the liver without reducing the secretion of apoB-48 in the intestine
J Clin Lipidol, 17 (6), 800-807
DOI 10.1016/j.jacl.2023.08.009, PubMed 37718180
Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia
J Clin Lipidol, 18 (1), e80-e89
DOI 10.1016/j.jacl.2023.11.002, PubMed 37981531
Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay
J Lipid Res, 65 (1), 100482
DOI 10.1016/j.jlr.2023.100482, PubMed 38052254
Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP
PLoS One, 18 (12), e0294764
DOI 10.1371/journal.pone.0294764, PubMed 38039300
Publications 2022
The risk of various types of cardiovascular diseases in mutation positive familial hypercholesterolemia; a review
Front Genet, 13, 1072108
DOI 10.3389/fgene.2022.1072108, PubMed 36561318
Cascade screening for familial hypercholesterolemia should be organized at a national level
Curr Opin Lipidol, 33 (4), 231-236
DOI 10.1097/MOL.0000000000000832, PubMed 35942821
Increased risk of peripheral artery disease in persons with familial hypercholesterolaemia: a prospective registry study
Eur J Prev Cardiol, 28 (18), e11-e13
DOI 10.1093/eurjpc/zwaa024, PubMed 33623989
Association of Familial Hypercholesterolemia and Statin Use With Risk of Dementia in Norway
JAMA Netw Open, 5 (4), e227715
DOI 10.1001/jamanetworkopen.2022.7715, PubMed 35438756
Molecular genetics in 4408 cardiomyopathy probands and 3008 relatives in Norway: 17 years of genetic testing in a national laboratory
Eur J Prev Cardiol, 29 (13), 1789-1799
DOI 10.1093/eurjpc/zwac102, PubMed 35653365
Risk of stroke in genetically verified familial hypercholesterolemia: A prospective matched cohort study
Atherosclerosis, 358, 34-40
DOI 10.1016/j.atherosclerosis.2022.08.015, PubMed 36084445
Publications 2021
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993-2020
Atherosclerosis, 322, 61-66
DOI 10.1016/j.atherosclerosis.2021.02.022, PubMed 33740630
The importance of cascade genetic screening for diagnosing autosomal dominant hypercholesterolemia: Results from twenty years of a national screening program in Norway
J Clin Lipidol, 15 (5), 674-681
DOI 10.1016/j.jacl.2021.08.007, PubMed 34479846
Excess Aortic Pathology Risk in Patients with Genetically Verified Familial Hypercholesterolaemia: A Prospective Norwegian Registry Study
Eur J Vasc Endovasc Surg, 61 (4), 712-713
DOI 10.1016/j.ejvs.2020.12.019, PubMed 33485759
Publications 2020
Prevalence of genetically verified familial hypercholesterolemia among young (<45 years) Norwegian patients hospitalized with acute myocardial infarction
J Clin Lipidol, 14 (3), 339-345
DOI 10.1016/j.jacl.2020.04.002, PubMed 32418822
Bone morphogenetic protein 1 cleaves the linker region between ligand-binding repeats 4 and 5 of the LDL receptor and makes the LDL receptor non-functional
Hum Mol Genet, 29 (8), 1229-1238
DOI 10.1093/hmg/ddz238, PubMed 31600776
2.5-fold increased risk of recurrent acute myocardial infarction with familial hypercholesterolemia
Atherosclerosis, 319, 28-34
DOI 10.1016/j.atherosclerosis.2020.12.019, PubMed 33465659
Publications 2019
Lower risk of smoking-related cancer in individuals with familial hypercholesterolemia compared with controls: a prospective matched cohort study
Sci Rep, 9 (1), 19273
DOI 10.1038/s41598-019-55682-x, PubMed 31848411
Association of Low-Density Lipoprotein Cholesterol With Risk of Aortic Valve Stenosis in Familial Hypercholesterolemia
JAMA Cardiol, 4 (11), 1156-1159
DOI 10.1001/jamacardio.2019.3903, PubMed 31617858
Strategies to prevent cleavage of the linker region between ligand-binding repeats 4 and 5 of the LDL receptor
Hum Mol Genet, 28 (22), 3734-3741
DOI 10.1093/hmg/ddz164, PubMed 31332430
Lysosomal acid lipase does not have a propeptide and should not be considered being a proprotein
Proteins, 88 (3), 440-448
DOI 10.1002/prot.25821, PubMed 31587363
Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity
Hum Mol Genet, 28 (18), 3043-3052
DOI 10.1093/hmg/ddz114, PubMed 31131398
Publications 2018
MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent
Atherosclerosis, 276, 28-38
DOI 10.1016/j.atherosclerosis.2018.07.009, PubMed 30025252
Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Eur Heart J, 39 (10), 853-860
DOI 10.1093/eurheartj/ehx596, PubMed 29095976
Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia: A Register Study From Norway
Stroke, 50 (1), 172-174
DOI 10.1161/STROKEAHA.118.023456, PubMed 30580708
Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia
Heart, 104 (19), 1600-1607
DOI 10.1136/heartjnl-2017-312706, PubMed 29622598
Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death
Forensic Sci Med Pathol, 14 (3), 367-371
DOI 10.1007/s12024-018-9989-3, PubMed 29881912
Publications 2017
Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia
Nutr Metab Cardiovasc Dis, 28 (2), 158-164
DOI 10.1016/j.numecd.2017.11.003, PubMed 29288010
Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia
Atherosclerosis, 266, 69-73
DOI 10.1016/j.atherosclerosis.2017.09.027, PubMed 28992466
A 50 year old man with proximal power failure and heart disease
Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209
Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion
Hum Mol Genet, 26 (9), 1634-1642
DOI 10.1093/hmg/ddx068, PubMed 28334946
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
BMC Nephrol, 18 (1), 140
DOI 10.1186/s12882-017-0563-0, PubMed 28446151
Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene
Mol Genet Metab, 123 (2), 169-176
DOI 10.1016/j.ymgme.2017.11.008, PubMed 29196158
[A 50-year-old man with proximal pareses and heart disease]
Tidsskr Nor Laegeforen, 137 (16)
DOI 10.4045/tidsskr.16.0789, PubMed 28871726
Publications 2016
Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene
Mol Genet Metab Rep, 9, 67-70
DOI 10.1016/j.ymgmr.2016.10.007, PubMed 27830118
Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013
Eur J Prev Cardiol, 24 (2), 137-144
DOI 10.1177/2047487316676135, PubMed 27794106
Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study
Eur J Prev Cardiol, 23 (18), 1962-1969
DOI 10.1177/2047487316666371, PubMed 27558979
Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
J Clin Lipidol, 10 (4), 816-823
DOI 10.1016/j.jacl.2016.02.015, PubMed 27578112
Studies of the autoinhibitory segment comprising residues 31-60 of the prodomain of PCSK9: Possible implications for the mechanism underlying gain-of-function mutations
Mol Genet Metab Rep, 9, 86-93
DOI 10.1016/j.ymgmr.2016.11.003, PubMed 27896130
Publications 2015
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
Open Heart, 2 (1), e000271
DOI 10.1136/openhrt-2015-000271, PubMed 26468400
Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody
Circ Cardiovasc Genet, 8 (6), 823-31
DOI 10.1161/CIRCGENETICS.115.001129, PubMed 26374825
[Increased mortality in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 135 (11), 1024-5
DOI 10.4045/tidsskr.15.0244, PubMed 26080775
Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR
Hum Mol Genet, 24 (20), 5836-44
DOI 10.1093/hmg/ddv304, PubMed 26220972
Publications 2014
Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene
Atherosclerosis, 234 (1), 30-3
DOI 10.1016/j.atherosclerosis.2014.02.005, PubMed 24589565
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2
BMC Med Genet, 15, 31
DOI 10.1186/1471-2350-15-31, PubMed 24606995
Sorting an LDL receptor with bound PCSK9 to intracellular degradation
Atherosclerosis, 237 (1), 76-81
DOI 10.1016/j.atherosclerosis.2014.08.038, PubMed 25222343
Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010
J Am Heart Assoc, 3 (6), e001236
DOI 10.1161/JAHA.114.001236, PubMed 25468658
Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum
FEBS Open Bio, 4, 321-7
DOI 10.1016/j.fob.2014.03.007, PubMed 24918045
PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum
Biochem J, 457 (1), 99-105
DOI 10.1042/BJ20130930, PubMed 24144304
Publications 2013
Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy
Europace, 15 (9), 1319-27
DOI 10.1093/europace/eut028, PubMed 23426552
Genetics of hypertrophic cardiomyopathy in Norway
Clin Genet, 86 (4), 355-60
DOI 10.1111/cge.12286, PubMed 24111713
Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects
Europace, 16 (4), 563-71
DOI 10.1093/europace/eut291, PubMed 24058181
[Weight loss pills purchased on the internet as the cause of ventricular fibrillation]
Ugeskr Laeger, 175 (11), 739-40
PubMed 23480888
PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
J Lipid Res, 54 (6), 1560-1566
DOI 10.1194/jlr.M034371, PubMed 23509406
Publications 2012
Serum levels of proprotein convertase subtilisin/kexin type 9 in subjects with familial hypercholesterolemia indicate that proprotein convertase subtilisin/kexin type 9 is cleared from plasma by low-density lipoprotein receptor-independent pathways
Transl Res, 160 (2), 125-30
DOI 10.1016/j.trsl.2012.01.010, PubMed 22683370
Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases
Int J Legal Med, 127 (1), 139-44
DOI 10.1007/s00414-011-0658-2, PubMed 22222782
Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation
Hum Mutat, 34 (1), 83-7
DOI 10.1002/humu.22215, PubMed 22949395
Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
Atherosclerosis, 225 (2), 370-5
DOI 10.1016/j.atherosclerosis.2012.10.026, PubMed 23102784
The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases
J Cardiovasc Electrophysiol, 23 (10), 1092-8
DOI 10.1111/j.1540-8167.2012.02371.x, PubMed 22882672
Publications 2011
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
J Lipid Res, 52 (10), 1787-94
DOI 10.1194/jlr.M018093, PubMed 21771976
Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor
Biochem Biophys Res Commun, 406 (2), 234-8
DOI 10.1016/j.bbrc.2011.02.023, PubMed 21324305
Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy
Forensic Sci Int, 219 (1-3), 33-8
DOI 10.1016/j.forsciint.2011.11.020, PubMed 22177269
Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated
PLoS One, 6 (2), e16721
DOI 10.1371/journal.pone.0016721, PubMed 21364743
Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells
FEBS J, 278 (16), 2938-50
DOI 10.1111/j.1742-4658.2011.08219.x, PubMed 21692990
Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction
Eur Heart J, 32 (9), 1089-96
DOI 10.1093/eurheartj/ehr069, PubMed 21406439
Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence
Ultrastruct Pathol, 35 (3), 139-45
DOI 10.3109/01913123.2010.551578, PubMed 21323422
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation
Biochem Biophys Res Commun, 408 (4), 642-6
DOI 10.1016/j.bbrc.2011.04.077, PubMed 21531209
Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum
Biochem Biophys Res Commun, 415 (4), 642-5
DOI 10.1016/j.bbrc.2011.10.127, PubMed 22079632
Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
Circulation, 124 (15), 1606-14
DOI 10.1161/CIRCULATIONAHA.110.990929, PubMed 21911783
Interaction between the ligand-binding domain of the LDL receptor and the C-terminal domain of PCSK9 is required for PCSK9 to remain bound to the LDL receptor during endosomal acidification
Hum Mol Genet, 21 (6), 1402-9
DOI 10.1093/hmg/ddr578, PubMed 22156580
Characterization of a naturally occurring degradation product of the LDL receptor
Mol Genet Metab, 105 (1), 149-54
DOI 10.1016/j.ymgme.2011.10.008, PubMed 22078455
Publications 2010
Mutations in APOA-I and ABCA1 in Norwegians with low levels of HDL cholesterol
Clin Chim Acta, 411 (23-24), 2019-23
DOI 10.1016/j.cca.2010.08.027, PubMed 20800056
Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction
Circulation, 122 (14), 1355-63
DOI 10.1161/CIRCULATIONAHA.110.960377, PubMed 20855658
High prevalence of exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia mutation-positive family members diagnosed by cascade genetic screening
Europace, 12 (3), 417-23
DOI 10.1093/europace/eup448, PubMed 20106799
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
J Hum Genet, 55 (10), 676-80
DOI 10.1038/jhg.2010.87, PubMed 20703241
[Catecholaminergic polymorphic ventricular tachycardia]
Tidsskr Nor Laegeforen, 130 (2), 139-42
DOI 10.4045/tidsskr.09.0529, PubMed 20125202
A novel BMPR2 gene mutation associated with exercise-induced pulmonary hypertension in septal defects
Scand Cardiovasc J, 44 (6), 331-6
DOI 10.3109/14017431.2010.525747, PubMed 21070126
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
Int J Audiol, 49 (8), 596-605
DOI 10.3109/14992021003743269, PubMed 20553101
Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds
Heart Rhythm, 8 (3), 412-9
DOI 10.1016/j.hrthm.2010.11.016, PubMed 21070882
Disrupted recycling of the low density lipoprotein receptor by PCSK9 is not mediated by residues of the cytoplasmic domain
Mol Genet Metab, 101 (1), 76-80
DOI 10.1016/j.ymgme.2010.05.003, PubMed 20659812
Publications 2009
Splice-site mutation c.313+1, G>A in intron 3 of the LDL receptor gene results in transcripts with skipping of exon 3 and inclusion of intron 3
Clin Chim Acta, 403 (1-2), 131-5
DOI 10.1016/j.cca.2009.02.001, PubMed 19361455
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
Atherosclerosis, 209 (1), 163-6
DOI 10.1016/j.atherosclerosis.2009.08.039, PubMed 19765707
Abnormal left ventricular relaxation in patients with long QT syndrome: reply
Eur. Heart J., 30 (22), 2814-2815
DOI 10.1093/eurheartj/ehp445
Genetic testing in specific cardiomyopathies
F1000 Med Rep, 1
DOI 10.3410/M1-52, PubMed 20948728
Nonsense-mediated decay of human LDL receptor mRNA
Scand J Clin Lab Invest, 69 (3), 409-17
DOI 10.1080/00365510802707163, PubMed 19148831
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses
Mol Genet Metab, 96 (4), 245-52
DOI 10.1016/j.ymgme.2008.12.014, PubMed 19208450
A chimeric LDL receptor containing the cytoplasmic domain of the transferrin receptor is degraded by PCSK9
Mol Genet Metab, 99 (2), 149-56
DOI 10.1016/j.ymgme.2009.09.012, PubMed 19828345
A Novel SCN5A Mutation in a Patient with Coexistence of Brugada Syndrome Traits and Ischaemic Heart Disease
Case Rep Med, 2009, 963645
DOI 10.1155/2009/963645, PubMed 19829766
Commentary PCSK9 variants: A new database
Atherosclerosis, 203 (1), 32-3
DOI 10.1016/j.atherosclerosis.2009.02.006, PubMed 19249440
Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia
Clin. Lipidol., 4 (3), 303-310
DOI 10.2217/CLP.09.24
The unique role of proprotein convertase subtilisin/kexin 9 in cholesterol homeostasis
J Intern Med, 266 (6), 507-19
DOI 10.1111/j.1365-2796.2009.02167.x, PubMed 19930098
Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
Clin Chim Acta, 411 (3-4), 229-33
DOI 10.1016/j.cca.2009.11.008, PubMed 19917273
Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C
J Med Genet, 47 (8), 575-7
DOI 10.1136/jmg.2009.072710, PubMed 19858127
Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene
Genet Test Mol Biomarkers, 13 (2), 243-8
DOI 10.1089/gtmb.2008.0125, PubMed 19371225
The effect of bafilomycin A1 and protease inhibitors on the degradation and recycling of a Class 5-mutant LDLR
Acta Biochim Biophys Sin (Shanghai), 41 (3), 246-55
DOI 10.1093/abbs/gmp008, PubMed 19280064
Publications 2008
New SCN5A mutation in a SUDEP victim with idiopathic epilepsy
Seizure, 18 (2), 158-60
DOI 10.1016/j.seizure.2008.07.008, PubMed 18752973
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers
Scand J Clin Lab Invest, 68 (5), 362-8
DOI 10.1080/00365510701765643, PubMed 18752142
Familial atrial septal defect in the oval fossa with progressive prolongation of the atrioventricular conduction caused by mutations in the NKX2.5 gene
Cardiol Young, 19 (1), 40-4
DOI 10.1017/S1047951108003387, PubMed 19049681
Characterization of novel mutations in the catalytic domain of the PCSK9 gene
J Intern Med, 263 (4), 420-31
DOI 10.1111/j.1365-2796.2007.01915.x, PubMed 18266662
Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion
FEBS J, 275 (16), 4121-33
DOI 10.1111/j.1742-4658.2008.06553.x, PubMed 18631360
Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage
Atherosclerosis, 203 (1), 161-5
DOI 10.1016/j.atherosclerosis.2008.10.007, PubMed 19022446
Berberine decreases PCSK9 expression in HepG2 cells
Atherosclerosis, 201 (2), 266-73
DOI 10.1016/j.atherosclerosis.2008.02.004, PubMed 18355829
[Brugada syndrome]
Tidsskr Nor Laegeforen, 128 (24), 2828-31
PubMed 19092950
Left ventricular mechanical dispersion by tissue Doppler imaging: a novel approach for identifying high-risk individuals with long QT syndrome
Eur Heart J, 30 (3), 330-7
DOI 10.1093/eurheartj/ehn466, PubMed 18940888
Identification of mutations in the apolipoprotein B-100 gene and in the PCSK9 gene as the cause of hypocholesterolemia
Clin Chim Acta, 397 (1-2), 92-5
DOI 10.1016/j.cca.2008.07.025, PubMed 18710658
Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening
Community Genet, 11 (1), 26-35
DOI 10.1159/000111637, PubMed 18196915
Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome?
Am J Med Genet A, 146A (17), 2284-90
DOI 10.1002/ajmg.a.32454, PubMed 18680192
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
J Cell Physiol, 217 (2), 459-67
DOI 10.1002/jcp.21519, PubMed 18570182
Jervell and Lange-Nielsen syndrome in Norwegian children: aspects around cochlear implantation, hearing, and balance
Ear Hear, 29 (2), 261-9
DOI 10.1097/aud.0b013e3181645393, PubMed 18595190
Development of sensitive and specific age- and gender-specific low-density lipoprotein cholesterol cutoffs for diagnosis of first-degree relatives with familial hypercholesterolaemia in cascade testing
Clin Chem Lab Med, 46 (6), 791-803
DOI 10.1515/CCLM.2008.135, PubMed 18601600
Publications 2007
[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C]
Rev Esp Cardiol, 60 (3), 311-4
DOI 10.1016/S1885-5857(07)60156-X, PubMed 17394878
Autosomal dominant retinitis pigmentosa in Norway: a 20-year clinical follow-up study with molecular genetic analysis. Two novel rhodopsin mutations: 1003delG and I179F
Acta Ophthalmol Scand, 85 (3), 287-97
DOI 10.1111/j.1600-0420.2006.00820.x, PubMed 17488458
Degradation of the LDL receptors by PCSK9 is not mediated by a secreted protein acted upon by PCSK9 extracellularly
BMC Cell Biol, 8, 9
DOI 10.1186/1471-2121-8-9, PubMed 17328821
[Lipid profile in children and adolescents with familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 127 (18), 2363-6
PubMed 17895939
4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor
FEBS J, 274 (8), 1881-93
DOI 10.1111/j.1742-4658.2007.05735.x, PubMed 17408384
Publications 2006
Missense mutations in the PCSK9 gene are associated with hypocholesterolemia and possibly increased response to statin therapy
Arterioscler Thromb Vasc Biol, 26 (5), 1094-100
DOI 10.1161/01.ATV.0000204337.81286.1c, PubMed 16424354
Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Hum Mol Genet, 15 (9), 1551-8
DOI 10.1093/hmg/ddl077, PubMed 16571601
Low-density lipoprotein receptor activity in Epstein-Barr virus-transformed lymphocytes from heterozygotes for the D374Y mutation in the PCSK9 gene
Scand J Clin Lab Invest, 66 (4), 317-28
DOI 10.1080/00365510600672775, PubMed 16777760
Model system for phenotypic characterization of sequence variations in the LDL receptor gene
Clin Chem, 52 (8), 1469-79
DOI 10.1373/clinchem.2006.068627, PubMed 16740646
Analysis of alternatively spliced isoforms of human LDL receptor mRNA
Clin Chim Acta, 373 (1-2), 151-7
DOI 10.1016/j.cca.2006.05.031, PubMed 16828075
Publications 2005
[DNA-based diagnostics of long QT syndrome]
Tidsskr Nor Laegeforen, 125 (20), 2783-6
PubMed 16244680
[Cardiac ion channel disorders--diagnosis and treatment]
Tidsskr Nor Laegeforen, 125 (20), 2778-81
PubMed 16244679
Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA
Clin Chim Acta, 356 (1-2), 164-71
DOI 10.1016/j.cccn.2005.01.028, PubMed 15936313
Retention of mutant low density lipoprotein receptor in endoplasmic reticulum (ER) leads to ER stress
J Biol Chem, 281 (1), 468-76
DOI 10.1074/jbc.M507071200, PubMed 16257961
Publications 2004
[Gitelman's syndrome--a differential diagnosis in hypokalemia]
Tidsskr Nor Laegeforen, 124 (8), 1093-4
PubMed 15114386
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia
Clin Genet, 65 (5), 419-22
DOI 10.1111/j.0009-9163.2004.0238.x, PubMed 15099351
Cascade genetic screening for familial hypercholesterolemia
Clin Genet, 66 (6), 483-7
DOI 10.1111/j.1399-0004.2004.00320.x, PubMed 15521974
[A family-based strategy for diagnosing familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 124 (9), 1228-9
PubMed 15131703
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program
Semin Vasc Med, 4 (1), 75-85
DOI 10.1055/s-2004-822989, PubMed 15199436
Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia
Clin Chim Acta, 343 (1-2), 179-84
DOI 10.1016/j.cccn.2004.01.029, PubMed 15115692
Publications 2002
[How common is familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 122 (25), 2484
PubMed 12448123
Publications 2001
[Familial hypercholesterolemia--prognosis and treatment]
Tidsskr Nor Laegeforen, 121 (13), 1635
PubMed 11446054
[Genetic screening and treatment in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 121 (13), 1635-6
PubMed 11446055
Publications 2000
A functional polymorphism in the promoter region of the microsomal triglyceride transfer protein (MTP -493G/T) influences lipoprotein phenotype in familial hypercholesterolemia
Arterioscler Thromb Vasc Biol, 20 (7), 1784-8
DOI 10.1161/01.atv.20.7.1784, PubMed 10894817
The genetic algorithm applied to haplotype data at the LDL receptor locus
Comput Methods Programs Biomed, 61 (1), 1-9
DOI 10.1016/s0169-2607(99)00025-5, PubMed 10660265
Does maternal or paternal heredity affect carotid atherosclerosis in children with familial hypercholesterolaemia?
Acta Paediatr, 89 (12), 1490-2
DOI 10.1080/080352500456705, PubMed 11195242
[Medical genetics--knowledge with many challenges in the new century]
Tidsskr Nor Laegeforen, 120 (7), 852-3
PubMed 10806912
Publications 1999
Multiple dysfunctions of two apolipoprotein A-I variants, apoA-I(R160L)Oslo and apoA-I(P165R), that are associated with hypoalphalipoproteinemia in heterozygous carriers
J Lipid Res, 40 (3), 486-94
PubMed 10064737
Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene
J Lipid Res, 40 (2), 213-20
PubMed 9925649
Mutant transcripts of the LDL receptor gene: mRNA structure and quantity
Hum Mutat, 13 (3), 186-96
DOI 10.1002/(SICI)1098-1004(1999)13:3<186::AID-HUMU2>3.0.CO;2-K, PubMed 10090473
Publications 1998
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia
Hum Genet, 102 (1), 44-9
DOI 10.1007/s004390050651, PubMed 9490296
Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA
Hum Mutat, 12 (2), 95-102
DOI 10.1002/(SICI)1098-1004(1998)12:2<95::AID-HUMU4>3.0.CO;2-E, PubMed 9671270
Carotid intima-media thickness and plaque in patients with familial hypercholesterolaemia mutations and control subjects
Eur J Clin Invest, 28 (12), 971-9
DOI 10.1046/j.1365-2362.1998.00399.x, PubMed 9893006
Publications 1997
Heterozygosity for apolipoprotein A-I(R160L)Oslo is associated with low levels of high density lipoprotein cholesterol and HDL-subclass LpA-I/A-II but normal levels of HDL-subclass LpA-I
J Lipid Res, 38 (1), 121-31
PubMed 9034206
[Application of gene technology in the diagnosis of familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 117 (5), 678-81
PubMed 9102960
[Is there a need for genetic/molecular diagnosis of familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 117 (5), 681-3
PubMed 9102961
Molecular genetics of familial hypercholesterolaemia in Norway
J Intern Med, 241 (3), 185-94
DOI 10.1046/j.1365-2796.1997.78119000.x, PubMed 9104431
[Diagnosis and treatment of severe hyperlipidemia]
Tidsskr Nor Laegeforen, 117 (29), 4241-4
PubMed 9441469
Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia
Cytometry, 30 (5), 264-8
PubMed 9383100
Publications 1996
Two novel missense mutations in the LDL receptor gene causing familial hypercholesterolemia
Clin Genet, 49 (2), 85-7
DOI 10.1111/j.1399-0004.1996.tb04333.x, PubMed 8740918
Application of long polymerase chain reaction in the study of the LDL receptor gene
Scand J Clin Lab Invest, 56 (1), 93-6
DOI 10.1080/00365519609088593, PubMed 8850178
A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects
Hum Mutat, 7 (1), 70-1
DOI 10.1002/(SICI)1098-1004(1996)7:1<70::AID-HUMU12>3.0.CO;2-P, PubMed 8664907
Risk factors related to carotid intima-media thickness and plaque in children with familial hypercholesterolemia and control subjects
Arterioscler Thromb Vasc Biol, 16 (8), 984-91
DOI 10.1161/01.atv.16.8.984, PubMed 8696963
Publications 1995
Characterization of an upstream regulatory element of the human apolipoprotein E gene, and purification of its binding protein from the human placenta
J Biochem, 117 (4), 915-22
DOI 10.1093/oxfordjournals.jbchem.a124796, PubMed 7592559
Is responsiveness to lovastatin in familial hypercholesterolaemia heterozygotes influenced by the specific mutation in the low-density lipoprotein receptor gene?
Eur J Clin Invest, 25 (12), 967-73
DOI 10.1111/j.1365-2362.1995.tb01975.x, PubMed 8719939
Identification of the apo B-3500 mutation in the Norwegian population
Scand J Clin Lab Invest, 55 (3), 217-21
DOI 10.3109/00365519509089616, PubMed 7638555
Two novel point mutations in the EGF precursor homology domain of the LDL receptor gene causing familial hypercholesterolemia
Hum Genet, 96 (2), 241-2
DOI 10.1007/BF00207391, PubMed 7635482
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia
Hum Genet, 95 (6), 671-6
DOI 10.1007/BF00209485, PubMed 7789953
Standardization of a flow cytometric method for measurement of low-density lipoprotein receptor activity on blood mononuclear cells
Cytometry, 20 (4), 290-5
DOI 10.1002/cyto.990200404, PubMed 7587716
Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway
Arterioscler Thromb Vasc Biol, 15 (8), 1009-14
DOI 10.1161/01.atv.15.8.1009, PubMed 7627689
Publications 1994
Two founder mutations in the LDL receptor gene in Norwegian familial hypercholesterolemia subjects
Atherosclerosis, 111 (2), 175-82
DOI 10.1016/0021-9150(94)90091-4, PubMed 7718019
Familial hypercholesterolaemia caused by a non-sense mutation in codon 329 of the LDL receptor gene
Scand J Clin Lab Invest, 54 (8), 605-9
DOI 10.3109/00365519409087539, PubMed 7709162
Publications 1993
[Genotyping of apolipoprotein E]
Tidsskr Nor Laegeforen, 113 (15), 1885
PubMed 8322337
[Molecular genetic causes of familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 113 (26), 3251-4
PubMed 8236220
Sixteen years of plasma exchange in a homozygote for familial hypercholesterolaemia
J Intern Med, 233 (2), 195-200
DOI 10.1111/j.1365-2796.1993.tb00673.x, PubMed 8433081
Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads
Biotechniques, 14 (4), 618-23
PubMed 8476605
Evaluation of running conditions for SSCP analysis: application of SSCP for detection of point mutations in the LDL receptor gene
PCR Methods Appl, 3 (3), 159-62
DOI 10.1101/gr.3.3.159, PubMed 8118396
Screening for point mutations in exon 10 of the low density lipoprotein receptor gene by analysis of single-strand conformation polymorphisms: detection of a nonsense mutation-FH469-->Stop
Hum Genet, 92 (1), 6-10
DOI 10.1007/BF00216137, PubMed 8103503
Haplotype analysis at the low density lipoprotein receptor locus in normal and familial hypercholesterolemia Norwegian subjects
Clin Genet, 44 (4), 214-20
DOI 10.1111/j.1399-0004.1993.tb03883.x, PubMed 7903228
Short report on DNA marker at candidate locus
Clin Genet, 44 (2), 111
PubMed 8275559
[Karyotyping of fetuses with developmental disorders. A 5-year material 1985-89]
Tidsskr Nor Laegeforen, 113 (3), 339-42
PubMed 8441983
Publications 1992
Long-term effect of lovastatin alone and in combination with cholestyramine on lipoprotein (a) level in familial hypercholesterolemic subjects
Clin Investig, 70 (8), 711-8
DOI 10.1007/BF00180296, PubMed 1392453
A new polymorphism in exon 11 of the LDL receptor gene in healthy people and in familial hypercholesterolemia subjects
Clin Genet, 42 (5), 224-8
DOI 10.1111/j.1399-0004.1992.tb03245.x, PubMed 1486698
A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects
Clin Genet, 42 (6), 288-95
DOI 10.1111/j.1399-0004.1992.tb03258.x, PubMed 1362925
StyI polymorphism in an enhancer region of the second intron of the apolipoprotein B gene in hyper- and hypocholesterolemic subjects
Clin Genet, 42 (5), 217-23
DOI 10.1111/j.1399-0004.1992.tb03244.x, PubMed 1362528
Publications 1990
Characterization of a human apolipoprotein E gene enhancer element and its associated protein factors
J Biol Chem, 265 (16), 9496-504
PubMed 2188976
Publications 1989
Unchanged serum lipoprotein (a) concentrations with lovastatin
Lancet, 2 (8666), 812
DOI 10.1016/s0140-6736(89)90884-2, PubMed 2571057
Publications 1988
[At last, an effective treatment of familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 108 (6), 493-6
PubMed 3281324
Studies of serum lipids in hypercholesterolaemic rabbits treated with doxazosin
Scand J Clin Lab Invest, 48 (4), 313-7
DOI 10.3109/00365518809167501, PubMed 2907180
Further evidence for an association between the XbaI polymorphism at the apolipoprotein B locus and lipoprotein level
Clin Genet, 34 (6), 347-51
DOI 10.1111/j.1399-0004.1988.tb02892.x, PubMed 2906824
Metabolism of low density lipoprotein after storage
J Oslo City Hosp, 38 (2), 21-6
PubMed 3361378
Effects of lovastatin alone and in combination with cholestyramine on serum lipids and apolipoproteins in heterozygotes for familial hypercholesterolemia
Atherosclerosis, 73 (2-3), 135-41
DOI 10.1016/0021-9150(88)90034-2, PubMed 3056429
Publications 1987
Effect of haptoglobin subtypes on serum lipid levels
Hum Hered, 37 (3), 150-6
DOI 10.1159/000153693, PubMed 3583295
[Biochemical defects in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 107 (32), 2855-7, 2848
PubMed 3321551
Publications 1986
[Total cholesterol. Reference values and criteria for treatment]
Tidsskr Nor Laegeforen, 106 (22), 1716-7
PubMed 3775706
Low density lipoprotein receptor determination in peripheral blood mononuclear cells: influence of differences in cell concentration
Scand J Clin Lab Invest, 46 (5), 477-88
DOI 10.3109/00365518609083701, PubMed 3749791
Publications 1985
Doxazosin increases low density lipoprotein receptor activity
Acta Pharmacol Toxicol (Copenh), 56 (3), 269-72
DOI 10.1111/j.1600-0773.1985.tb01288.x, PubMed 2861710
Studies on low density lipoprotein receptor activity in peripheral blood mononuclear cells and in tissue cultured fibroblasts
[T. P. Leren], Oslo, 1 b. (flere pag.)
BIBSYS 852082762
Cell-released substances interfere with low density lipoprotein receptor determination in fibroblasts
Scand J Clin Lab Invest, 45 (4), 379-85
DOI 10.3109/00365518509161022, PubMed 4012217
Low density lipoprotein receptor determination in peripheral blood mononuclear cells (PBMCs). I. Influence of differences in cell concentration
J Oslo City Hosp, 35 (11-12), 119-27
PubMed 4087061
Low density lipoprotein (LDL) receptor determination in peripheral blood mononuclear cells. II. Characteristics of cell released substances that interfere with binding of LDL
J Oslo City Hosp, 35 (11-12), 129-39
PubMed 4087062
Low density lipoprotein (LDL) receptor determination in peripheral blood mononuclear cells. III. Cell membrane constituents bind to LDL and interfere with LDL receptor analyses
J Oslo City Hosp, 35 (11-12), 141-50
PubMed 4087063
Increased frequency of the apolipoprotein E-4 isoform in male subjects with multifactorial hypercholesterolemia
Clin Genet, 27 (5), 458-62
DOI 10.1111/j.1399-0004.1985.tb00231.x, PubMed 4006269
Maximal low density lipoprotein receptor activity and the effect of lipid lowering diet on total serum cholesterol
Clin Genet, 27 (6), 543-9
DOI 10.1111/j.1399-0004.1985.tb02038.x, PubMed 4017275
Effect of lipid lowering diet on low density lipoprotein receptor activity in freshly isolated peripheral blood mononuclear cells
Acta Med Scand, 218 (1), 41-9
DOI 10.1111/j.0954-6820.1985.tb08822.x, PubMed 2996310
Low density lipoprotein receptor activity in cultured skin fibroblasts from octa- and nonagenarians
Clin Genet, 27 (5), 433-42
DOI 10.1111/j.1399-0004.1985.tb00228.x, PubMed 4006267
Publications 1984
Low density lipoprotein receptors in cultured skin fibroblasts from psoriasis patients
Clin Genet, 25 (3), 230-41
DOI 10.1111/j.1399-0004.1984.tb01983.x, PubMed 6323070
Publications 1983
[Hyperosmolar nonketotic diabetic coma]
Tidsskr Nor Laegeforen, 103 (5), 519-21
PubMed 6868026