Cellular Cholesterol Metabolism

Publications 2024

Ben-Omran T, Masana L, Kolovou G, Ariceta G, Nóvoa FJ, Lund AM, Bogsrud MP, Araujo M, Hussein O, Ibarretxe D, Sanchez-Hernández RM, Santos RD (2024)
Correction to: Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia
Adv Ther, 41 (4), 1765-1769
DOI 10.1007/s12325-023-02739-z, PubMed 38376744

Bjune K, Halvorsen PS, Wangensteen H, Leren TP, Bogsrud MP, Strøm TB (2024)
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

Gregersen I, Narverud I, Christensen JJ, Hovland A, Øyri LKL, Ueland T, Retterstøl K, Bogsrud MP, Aukrust P, Halvorsen B, Holven KB (2024)
Plasma legumain in familial hypercholesterolemia: associations with statin use and cardiovascular risk markers
Scand J Clin Lab Invest, 84 (1), 24-29
DOI 10.1080/00365513.2024.2309617, PubMed 38319290

Melnes T, Bogsrud MP, Christensen JJ, Rundblad A, Narverud I, Retterstøl K, Aukrust P, Halvorsen B, Ulven SM, Holven KB (2024)
Gene expression profiling in elderly patients with familial hypercholesterolemia with and without coronary heart disease
Atherosclerosis, 392, 117507
DOI 10.1016/j.atherosclerosis.2024.117507, PubMed 38663317

Publications 2023

Christensen JJ, Arnesen EK, Rundblad A, Telle-Hansen VH, Narverud I, Blomhoff R, Bogsrud MP, Retterstøl K, Ulven SM, Holven KB (2023)
Dietary fat quality, plasma atherogenic lipoproteins, and atherosclerotic cardiovascular disease: An overview of the rationale for dietary recommendations for fat intake
Atherosclerosis, 389, 117433
DOI 10.1016/j.atherosclerosis.2023.117433, PubMed 38219649

Johansen AK, Bogsrud MP, Christensen JJ, Rundblad A, Narverud I, Ulven S, Langslet G, Retterstøl K, Holven KB (2023)
Young women with familial hypercholesterolemia have higher LDL-cholesterol burden than men: Novel data using repeated measurements during 12-years follow-up
Atheroscler Plus, 51, 28-34
DOI 10.1016/j.athplu.2023.01.001, PubMed 36911286

Landsend ECS, von der Lippe C, Mediå L, Miller JU, Berge KE, Sigurdardottir S (2023)
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol (in press)
DOI 10.1111/aos.16615, PubMed 38131258

Rodríguez-Borjabad C, Narveud I, Christensen JJ, Ibarretxe D, Andreychuk N, Girona J, Torvik K, Folkedal G, Bogsrud MP, Retterstøl K, Plana N, Masana L, Holven KB (2023)
Association between Nordic and Mediterranean diets with lipoprotein phenotype assessed by 1HNMR in children with familial hypercholesterolemia
Atherosclerosis, 373, 38-45
DOI 10.1016/j.atherosclerosis.2023.04.009, PubMed 37137225

Rootwelt-Norberg C, Skjølsvik ET, Chivulescu M, Bogsrud MP, Ribe MP, Aabel EW, Beitnes JO, Brekke PH, Håland TF, Hasselberg NE, Lie ØH, Haugaa KH (2023)
Disease progression rate is a strong predictor of ventricular arrhythmias in patients with cardiac laminopathies: a primary prevention cohort study
Europace, 25 (2), 634-642
DOI 10.1093/europace/euac192, PubMed 36352512

Schreuder MM, Hamkour S, Siegers KE, Holven KB, Johansen AK, van de Ree MA, Imholz B, Boersma E, Louters L, Bogsrud MP, Retterstøl K, Visseren FLJ, Roeters van Lennep JE, Koopal C (2023)
LDL cholesterol targets rarely achieved in familial hypercholesterolemia patients: A sex and gender-specific analysis
Atherosclerosis, 384, 117117
DOI 10.1016/j.atherosclerosis.2023.03.022, PubMed 37080805

Strøm TB, Asprusten E, Laerdahl JK, Øygard I, Hussain MM, Bogsrud MP, Leren TP (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

Strøm TB, Tveita AA, Bogsrud MP, Leren TP (2023)
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

Svilaas T, Klemsdal TO, Bogsrud MP, Græsdal A, Vesterbekkmo EK, Asprusten EA, Langslet G, Retterstøl K (2023)
[Correction: High levels of lipoprotein(a) – assessment and treatment]
Tidsskr Nor Laegeforen, 143 (2)
DOI 10.4045/tidsskr.23.0023, PubMed 36718898

Teigen M, Ølnes ÅS, Bjune K, Leren TP, Bogsrud MP, Strøm TB (2023)
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

Ølnes ÅS, Teigen M, Laerdahl JK, Leren TP, Strøm TB, Bjune K (2023)
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

Øyri LKL, Christensen JJ, Sebert S, Thoresen M, Michelsen TM, Ulven SM, Brekke HK, Retterstøl K, Brantsæter AL, Magnus P, Bogsrud MP, Holven KB (2023)
Maternal prenatal cholesterol levels predict offspring weight trajectories during childhood in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 21 (1), 43
DOI 10.1186/s12916-023-02742-9, PubMed 36747215

Publications 2022

Berk KA, Borgeraas H, Narverud I, Mulder MT, Øyri LKL, Verhoeven AJM, Småstuen MC, Bogsrud MP, Omland T, Hertel JK, Gjevestad E, Nordstrand N, Holven KB, Hjelmesæth J (2022)
Differential effects of bariatric surgery and lifestyle interventions on plasma levels of Lp(a) and fatty acids
Lipids Health Dis, 21 (1), 145
DOI 10.1186/s12944-022-01756-1, PubMed 36577984

Christensen JJ, Bogsrud MP, Holven KB, Retterstøl K, Veierød MB, Nordeng H (2022)
Use of statins and other lipid-modifying agents across pregnancy: A nationwide drug utilization study in Norway in 2005-2018
Atherosclerosis, 368, 25-34
DOI 10.1016/j.atherosclerosis.2022.11.022, PubMed 36522216

Hovland A, Mundal LJ, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (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

Langslet G, Holven KB, Bogsrud MP (2022)
Treatment goals in familial hypercholesterolaemia-time to consider low-density lipoprotein-cholesterol burden
Eur J Prev Cardiol, 29 (17), 2278-2280
DOI 10.1093/eurjpc/zwab228, PubMed 34935933

Leren TP, Bogsrud MP (2022)
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

Melnes T, Bogsrud MP, Thorsen I, Fossum J, Christensen JJ, Narverud I, Retterstøl K, Ulven SM, Holven KB (2022)
What characterizes event-free elderly FH patients? A comprehensive lipoprotein profiling
Nutr Metab Cardiovasc Dis, 32 (7), 1651-1660
DOI 10.1016/j.numecd.2022.03.028, PubMed 35527125

Mundal LJ, Hovland A, Igland J, Vetrhus M, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2022)
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

Mundal LJ, Igland J, Svendsen K, Holven KB, Leren TP, Retterstøl K (2022)
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

Rootwelt-Norberg C, Christensen AH, Skjølsvik ET, Chivulescu M, Vissing CR, Bundgaard H, Aabel EW, Bogsrud MP, Hasselberg NE, Lie ØH, Haugaa KH (2022)
Timing of cardioverter-defibrillator implantation in patients with cardiac laminopathies-External validation of the LMNA-risk ventricular tachyarrhythmia calculator
Heart Rhythm, 20 (3), 423-429
DOI 10.1016/j.hrthm.2022.11.024, PubMed 36494026

Smedsrud MK, Chivulescu M, Forså MI, Castrini I, Aabel EW, Rootwelt-Norberg C, Bogsrud MP, Edvardsen T, Hasselberg NE, Früh A, Haugaa KH (2022)
Highly malignant disease in childhood-onset arrhythmogenic right ventricular cardiomyopathy
Eur Heart J, 43 (45), 4694-4703
DOI 10.1093/eurheartj/ehac485, PubMed 36036653

Stava TT, Leren TP, Bogsrud MP (2022)
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

Svendsen K, Olsen T, Vinknes KJ, Mundal LJ, Holven KB, Bogsrud MP, Leren TP, Igland J, Retterstøl K (2022)
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

Svilaas T, Klemsdal TO, Bogsrud MP, Græsdal A, Vesterbekkmo EK, Asprusten EA, Langslet G, Retterstøl K (2022)
High levels of lipoprotein(a) - assessment and treatment
Tidsskr Nor Laegeforen, 142 (1)
DOI 10.4045/tidsskr.21.0800, PubMed 36655975

Publications 2021

Christensen JJ, Narverud I, Ruuth M, Heier M, Jauhiainen M, Ulven SM, Bogsrud MP, Kovanen PT, Halvorsen B, Oda MN, Wium C, Retterstøl K, Öörni K, Holven KB (2021)
Children with familial hypercholesterolemia display changes in LDL and HDL function: A cross-sectional study
J Intern Med, 290 (5), 1083-1097
DOI 10.1111/joim.13383, PubMed 34506681

Futema M, Ramaswami U, Tichy L, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, De Leener A, Fastre E, Vrablik M, Freiberger T, Esterbauer H, Dieplinger H, Greber-Platzer S, Medeiros AM, Bourbon M, Mollaki V, Drogari E, Humphries SE (2021)
Comparison of the mutation spectrum and association with pre and post treatment lipid measures of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 319, 108-117
DOI 10.1016/j.atherosclerosis.2021.01.008, PubMed 33508743

Johansen AK, Bogsrud MP, Roeters van Lennep J, Narverud I, Langslet G, Retterstøl K, Holven KB (2021)
Long term follow-up of children with familial hypercholesterolemia and relatively normal LDL-cholesterol at diagnosis
J Clin Lipidol, 15 (2), 375-378
DOI 10.1016/j.jacl.2021.01.007, PubMed 33608220

Klevmoen M, Bogsrud MP, Retterstøl K, Svilaas T, Vesterbekkmo EK, Hovland A, Berge C, Roeters van Lennep J, Holven KB (2021)
Loss of statin treatment years during pregnancy and breastfeeding periods in women with familial hypercholesterolemia
Atherosclerosis, 335, 8-15
DOI 10.1016/j.atherosclerosis.2021.09.003, PubMed 34520888

Langslet G, Johansen AK, Bogsrud MP, Narverud I, Risstad H, Retterstøl K, Holven KB (2021)
Thirty percent of children and young adults with familial hypercholesterolemia treated with statins have adherence issues
Am J Prev Cardiol, 6, 100180
DOI 10.1016/j.ajpc.2021.100180, PubMed 34327501

Leren TP, Bogsrud MP (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

Leren TP, Bogsrud MP (2021)
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

Lie ØH, Chivulescu M, Rootwelt-Norberg C, Ribe M, Bogsrud MP, Lyseggen E, Beitnes JO, Almaas V, Haugaa KH (2021)
Left Ventricular Dysfunction in Arrhythmogenic Cardiomyopathy: Association With Exercise Exposure, Genetic Basis, and Prognosis
J Am Heart Assoc, 10 (8), e018680
DOI 10.1161/JAHA.120.018680, PubMed 33821670

Mundal LJ, Igland J, Leren TP, Retterstøl K (2021)
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

Rodríguez-Borjabad C, Narveud I, Christensen JJ, Ulven SM, Malo AI, Ibarretxe D, Girona J, Torvik K, Bogsrud MP, Retterstøl K, Plana N, Masana L, Holven KB (2021)
Dietary intake and lipid levels in Norwegian and Spanish children with familial hypercholesterolemia
Nutr Metab Cardiovasc Dis, 31 (4), 1299-1307
DOI 10.1016/j.numecd.2020.12.002, PubMed 33549456

Rootwelt-Norberg C, Lie ØH, Chivulescu M, Castrini AI, Sarvari SI, Lyseggen E, Almaas VM, Bogsrud MP, Edvardsen T, Haugaa KH (2021)
Sex differences in disease progression and arrhythmic risk in patients with arrhythmogenic cardiomyopathy
Europace, 23 (7), 1084-1091
DOI 10.1093/europace/euab077, PubMed 33829244

Svendsen K, Torheim LE, Fjelberg V, Sorprud A, Narverud I, Retterstøl K, Bogsrud MP, Holven KB, Myhrstad MCW, Telle-Hansen VH (2021)
Gender differences in nutrition literacy levels among university students and employees: a descriptive study
J Nutr Sci, 10, e56
DOI 10.1017/jns.2021.47, PubMed 34367630

Øyri LKL, Bogsrud MP, Christensen JJ, Ulven SM, Brantsæter AL, Retterstøl K, Brekke HK, Michelsen TM, Henriksen T, Roeters van Lennep JE, Magnus P, Veierød MB, Holven KB (2021)
Novel associations between parental and newborn cord blood metabolic profiles in the Norwegian Mother, Father and Child Cohort Study
BMC Med, 19 (1), 91
DOI 10.1186/s12916-021-01959-w, PubMed 33849542

Øyri LKL, Bogsrud MP, Kristiansen AL, Myhre JB, Astrup H, Retterstøl K, Brekke HK, Roeters van Lennep JE, Andersen LF, Holven KB (2021)
Cholesterol at ages 6, 12 and 24 months: Tracking and associations with diet and maternal cholesterol in the Infant Cholesterol Study
Atherosclerosis, 326, 11-16
DOI 10.1016/j.atherosclerosis.2021.04.017, PubMed 33990045

Publications 2020

Bogsrud MP, Øyri LKL, Halvorsen S, Atar D, Leren TP, Holven KB (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

Hovland A, Narverud I, Lie Øyri LK, Bogsrud MP, Aagnes I, Ueland T, Mulder M, Leijten F, Langslet G, Wium C, Svilaas A, Arnesen KE, Roeters van Lennep J, Aukrust P, Halvorsen B, Retterstøl K, Holven KB (2020)
Subjects with familial hypercholesterolemia have lower aortic valve area and higher levels of inflammatory biomarkers
J Clin Lipidol, 15 (1), 134-141
DOI 10.1016/j.jacl.2020.12.006, PubMed 33358307

Representatives of the Global Familial Hypercholesterolemia Community, Wilemon KA, Patel J, Aguilar-Salinas C, Ahmed CD, Alkhnifsawi M, Almahmeed W, Alonso R, Al-Rasadi K, Badimon L, Bernal LM, Bogsrud MP, Braun LT, Brunham L, Catapano AL, Cillíková K, Corral P, Cuevas R, Defesche JC, Descamps OS, de Ferranti S, Eiselé JL, Elikir G, Folco E, Freiberger T et al. (2020)
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia: A Global Call to Action
JAMA Cardiol, 5 (2), 217-229
DOI 10.1001/jamacardio.2019.5173, PubMed 31895433

Strøm TB, Bjune K, Leren TP (2020)
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

Sundvold H (2020)
Triciribine Engages ZFP36L1 and HuR to Stabilize LDLR mRNA
Molecules, 25 (19)
DOI 10.3390/molecules25194505, PubMed 33019656

Svendsen K, Krogh HW, Igland J, Tell GS, Mundal LJ, Holven KB, Bogsrud MP, Leren TP, Retterstøl K (2020)
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

Svendsen K, Langslet G, Krogh HW, Brinck J, Klausen IC, Stenehjem JS, Holven KB, Bogsrud MP, Retterstøl K (2020)
Genetic testing is essential for initiating statin therapy in children with familial hypercholesterolemia: Examples from Scandinavia
Atherosclerosis, 316, 48-52
DOI 10.1016/j.atherosclerosis.2020.11.027, PubMed 33302044

Publications 2019

Ben-Omran T, Masana L, Kolovou G, Ariceta G, Nóvoa FJ, Lund AM, Bogsrud MP, Araujo M, Hussein O, Ibarretxe D, Sanchez-Hernández RM, Santos RD (2019)
Real-World Outcomes with Lomitapide Use in Paediatric Patients with Homozygous Familial Hypercholesterolaemia
Adv Ther, 36 (7), 1786-1811
DOI 10.1007/s12325-019-00985-8, PubMed 31102204

Bjune K, Wierød L, Naderi S (2019)
Inhibitors of AKT kinase increase LDL receptor mRNA expression by two different mechanisms
PLoS One, 14 (6), e0218537
DOI 10.1371/journal.pone.0218537, PubMed 31216345

Bogsrud MP, Græsdal A, Johansen D, Langslet G, Hovland A, Arnesen KE, Mundal LJ, Retterstøl K, Wium C, Holven KB (2019)
LDL-cholesterol goal achievement, cardiovascular disease, and attributed risk of Lp(a) in a large cohort of predominantly genetically verified familial hypercholesterolemia
J Clin Lipidol, 13 (2), 279-286
DOI 10.1016/j.jacl.2019.01.010, PubMed 30910667

Holven KB, Ulven SM, Bogsrud MP (2019)
Editorial Comment: Hyperlipidaemia and cardiovascular disease and impact of early cholesterol accumulation
Curr Opin Lipidol, 30 (6), 490-493
DOI 10.1097/MOL.0000000000000646, PubMed 31688171

Jensvoll H, Smeland MF, Tiller H, Holla ØL, Prescott TE, Vik A (2019)
A pregnant woman with pancytopenia
Tidsskr Nor Laegeforen, 139 (17)
DOI 10.4045/tidsskr.19.0022, PubMed 31746163

Krogh HW, Svendsen K, Igland J, Mundal LJ, Holven KB, Bogsrud MP, Leren TP, Retterstøl K (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

Mundal LJ, Hovland A, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2019)
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

Narverud I, Bogsrud MP, Øyri LKL, Ulven SM, Retterstøl K, Ueland T, Mulder M, Roeters van Lennep J, Halvorsen B, Aukrust P, Veierød MB, Holven KB (2019)
Lipoprotein(a) concentration is associated with plasma arachidonic acid in subjects with familial hypercholesterolaemia
Br J Nutr, 122 (7), 790-799
DOI 10.1017/S0007114519001600, PubMed 31262370

Narverud I, Christensen JJ, Bakke SS, Ulven SM, Rundblad A, Aukrust P, Espevik T, Bogsrud MP, Retterstøl K, Ueland T, Halvorsen B, Holven KB (2019)
Profiling of immune-related gene expression in children with familial hypercholesterolaemia
J Intern Med, 287 (3), 310-321
DOI 10.1111/joim.13001, PubMed 31631426

Ramaswami U, Futema M, Bogsrud MP, Holven KB, Roeters van Lennep J, Wiegman A, Descamps OS, Vrablik M, Freiberger T, Dieplinger H, Greber-Platzer S, Hanauer-Mader G, Bourbon M, Drogari E, Humphries SE (2019)
Comparison of the characteristics at diagnosis and treatment of children with heterozygous familial hypercholesterolaemia (FH) from eight European countries
Atherosclerosis, 292, 178-187
DOI 10.1016/j.atherosclerosis.2019.11.012, PubMed 31809987

Strøm TB, Bjune K, Costa LTD, Leren TP (2019)
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

Strøm TB, Vinje T, Bjune K, da Costa LT, Laerdahl JK, Leren TP (2019)
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

Vinje T, Laerdahl JK, Bjune K, Leren TP, Strøm TB (2019)
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

Øyri LKL, Bogsrud MP, Kristiansen AL, Myhre JB, Retterstøl K, Brekke HK, Gundersen TE, Andersen LF, Holven KB (2019)
Infant cholesterol and glycated haemoglobin concentrations vary widely-Associations with breastfeeding, infant diet and maternal biomarkers
Acta Paediatr, 109 (1), 115-121
DOI 10.1111/apa.14936, PubMed 31299108

Øyri LKL, Narverud I, Bogsrud MP, Hansson P, Leder L, Byfuglien MG, Veierød MB, Thoresen M, Ulven SM, Holven KB (2019)
Postprandial changes in gene expression of cholesterol influx and efflux mediators after intake of SFA compared with n-6 PUFA in subjects with and without familial hypercholesterolaemia: secondary outcomes of a randomised controlled trial
J Nutr Sci, 8, e27
DOI 10.1017/jns.2019.25, PubMed 31448116

Publications 2018

Bjune K, Sundvold H, Leren TP, Naderi S (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

Bjune K, Wierød L, Naderi S (2018)
Triciribine increases LDLR expression and LDL uptake through stabilization of LDLR mRNA
Sci Rep, 8 (1), 16174
DOI 10.1038/s41598-018-34237-6, PubMed 30385871

Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2018)
Vigorous exercise in patients with hypertrophic cardiomyopathy
Int J Cardiol, 250, 157-163
DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, De Marco M, Stevens CAT, Akram A, Freiberger T, Hovingh GK, Kastelein JJP, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Al-Khnifsawi M, AlKindi FA, Alnouri F, Alonso R, Al-Rasadi K, Al-Sarraf A, Ashavaid TF, Binder CJ, Bogsrud MP, Bourbon M et al. (2018)
Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)
Atherosclerosis, 277, 234-255
DOI 10.1016/j.atherosclerosis.2018.08.051, PubMed 30270054

Hasselberg NE, Berge KE, Rasmussen M, Früh A, Ørstavik K, Haugaa KH (2018)
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627

Hasselberg NE, Haland TF, Saberniak J, Brekke PH, Berge KE, Leren TP, Edvardsen T, Haugaa KH (2018)
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

Holven KB, Narverud I, van Lennep JR, Versmissen J, Øyri LKL, Galema-Boers A, Langslet G, Ulven SM, Veierød MB, Retterstøl K, Bogsrud MP (2018)
Sex differences in cholesterol levels from birth to 19 years of age may lead to increased cholesterol burden in females with FH
J Clin Lipidol, 12 (3), 748-755.e2
DOI 10.1016/j.jacl.2018.02.021, PubMed 29609857

Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2018)
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

Langslet G, Bogsrud MP, Wium C, Johansen D, Svilaas A, Holven KB (2018)
Some children with a familial hypercholesterolemia mutation may exhibit persistent low LDL levels
J Clin Lipidol, 12 (5), 1327-1328
DOI 10.1016/j.jacl.2018.06.012, PubMed 30033003

Mundal LJ, Igland J, Veierød MB, Holven KB, Ose L, Selmer RM, Wisloff T, Kristiansen IS, Tell GS, Leren TP, Retterstøl K (2018)
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

Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL, Rognum TO (2018)
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

Øyri LKL, Hansson P, Bogsrud MP, Narverud I, Florholmen G, Leder L, Byfuglien MG, Veierød MB, Ulven SM, Holven KB (2018)
Delayed postprandial TAG peak after intake of SFA compared with PUFA in subjects with and without familial hypercholesterolaemia: a randomised controlled trial
Br J Nutr, 119 (10), 1142-1150
DOI 10.1017/S0007114518000673, PubMed 29759104

Øyri LKL, Hansson P, Bogsrud MP, Narverud I, Florholmen G, Leder L, Byfuglien MG, Veierød MB, Ulven SM, Holven KB (2018)
Delayed postprandial TAG peak after intake of SFA compared with PUFA in subjects with and without familial hypercholesterolaemia: a randomised controlled trial
Br J Nutr, 120 (5), 597
DOI 10.1017/S0007114518001769, PubMed 30047345

Publications 2017

Bogsrud MP, Græsdal A, Retterstøl K, Holven KB (2017)
A physically fit woman in her thirties with exertional dyspnoea
Tidsskr Nor Laegeforen, 137 (6), 456-458
DOI 10.4045/tidsskr.16.0538, PubMed 28332800

Bogsrud MP, Langslet G, Wium C, Johansen D, Svilaas A, Holven KB (2017)
Treatment goal attainment in children with familial hypercholesterolemia: A cohort study of 302 children in Norway
J Clin Lipidol, 12 (2), 375-382
DOI 10.1016/j.jacl.2017.11.009, PubMed 29310990

Caddeo A, Mancina RM, Pirazzi C, Russo C, Sasidharan K, Sandstedt J, Maurotti S, Montalcini T, Pujia A, Leren TP, Romeo S, Pingitore P (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

Christensen JJ, Ulven SM, Retterstøl K, Narverud I, Bogsrud MP, Henriksen T, Bollerslev J, Halvorsen B, Aukrust P, Holven KB (2017)
Comprehensive lipid and metabolite profiling of children with and without familial hypercholesterolemia: A cross-sectional study
Atherosclerosis, 266, 48-57
DOI 10.1016/j.atherosclerosis.2017.09.021, PubMed 28963918

Dejgaard LA, Haland TF, Lie OH, Ribe M, Bjune T, Leren IS, Berge KE, Edvardsen T, Haugaa KH (2017)
Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy
Data Brief, 15, 30-39
DOI 10.1016/j.dib.2017.08.018, PubMed 28971120

Haland TF, Hasselberg NE, Almaas VM, Dejgaard LA, Saberniak J, Leren IS, Berge KE, Haugaa KH, Edvardsen T (2017)
The systolic paradox in hypertrophic cardiomyopathy
Open Heart, 4 (1), e000571
DOI 10.1136/openhrt-2016-000571, PubMed 28674623

Holven KB, Ulven SM, Bogsrud MP (2017)
Hyperlipidemia and cardiovascular disease with focus on familial hypercholesterolemia
Curr Opin Lipidol, 28 (5), 445-447
DOI 10.1097/MOL.0000000000000449, PubMed 28857860

Hovland A, Mundal LJ, Igland J, Veierød MB, Holven KB, Bogsrud MP, Tell GS, Leren TP, Retterstøl K (2017)
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

Orstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
A 50 year old man with proximal power failure and heart disease
Tidsskr. Nor. Laegeforen., 137 (16), 1206-1209

Retterstøl K, Narverud I, Selmer R, Berge KE, Osnes IV, Ulven SM, Halvorsen B, Aukrust P, Holven KB, Iversen PO (2017)
Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
Lipids Health Dis, 16 (1), 115
DOI 10.1186/s12944-017-0511-9, PubMed 28606150

Strøm TB, Laerdahl JK, Leren TP (2017)
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

Subasinghe CJ, Sirisena ND, Herath C, Berge KE, Leren TP, Bulugahapitiya U, Dissanayake VHW (2017)
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

Vinje T, Wierød L, Leren TP, Strøm TB (2017)
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

Ørstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C (2017)
[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

Bogsrud MP, Ulven SM, Holven KB (2016)
Does intrauterine exposure to hypercholesterolemia adversely affect familial hypercholesterolemia phenotype?
Curr Opin Lipidol, 27 (4), 382-7
DOI 10.1097/MOL.0000000000000299, PubMed 27070077

Christensen JJ, Osnes L, Halvorsen B, Retterstøl K, Bogsrud MP, Wium C, Svilaas A, Narverud I, Ulven SM, Aukrust P, Holven KB (2016)
Data on circulating leukocyte subpopulations and inflammatory proteins in children with familial hypercholesterolemia and healthy children
Data Brief, 10, 587-592
DOI 10.1016/j.dib.2016.12.042, PubMed 28070551

Christensen JJ, Osnes LT, Halvorsen B, Retterstøl K, Bogsrud MP, Wium C, Svilaas A, Narverud I, Ulven SM, Aukrust P, Holven KB (2016)
Altered leukocyte distribution under hypercholesterolemia: A cross-sectional study in children with familial hypercholesterolemia
Atherosclerosis, 256, 67-74
DOI 10.1016/j.atherosclerosis.2016.11.031, PubMed 28024183

EAS Familial Hypercholesterolaemia Studies Collaboration, Vallejo-Vaz AJ, Akram A, Kondapally Seshasai SR, Cole D, Watts GF, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Freiberger T, Abifadel M, Aguilar-Salinas CA, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Ceska R, Corral P et al. (2016)
Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration
Atheroscler Suppl, 22, 1-32
DOI 10.1016/j.atherosclerosissup.2016.10.001, PubMed 27939304

Leren TP, Strøm TB, Berge KE (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

Mundal L, Igland J, Ose L, Holven KB, Veierød MB, Leren TP, Retterstøl K (2016)
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

Mundal L, Veierød MB, Halvorsen T, Holven KB, Ose L, Iversen PO, Tell GS, Leren TP, Retterstøl K (2016)
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

Pingitore P, Lepore SM, Pirazzi C, Mancina RM, Motta BM, Valenti L, Berge KE, Retterstøl K, Leren TP, Wiklund O, Romeo S (2016)
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

Sundvold H, Sundvold-Gjerstad V, Malerød-Fjeld H, Haglund K, Stenmark H, Malerød L (2016)
Arv1 promotes cell division by recruiting IQGAP1 and myosin to the cleavage furrow
Cell Cycle, 15 (5), 628-43
DOI 10.1080/15384101.2016.1146834, PubMed 27104745

Wierød L, Cameron J, Strøm TB, Leren TP (2016)
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

Yu H, Zhang VW, Stray-Pedersen A, Hanson IC, Forbes LR, de la Morena MT, Chinn IK, Gorman E, Mendelsohn NJ, Pozos T, Wiszniewski W, Nicholas SK, Yates AB, Moore LE, Berge KE, Sorte H, Bayer DK, ALZahrani D, Geha RS, Feng Y, Wang G, Orange JS, Lupski JR, Wang J, Wong LJ (2016)
Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
J Allergy Clin Immunol, 138 (4), 1142-1151.e2
DOI 10.1016/j.jaci.2016.05.035, PubMed 27484032

Publications 2015

Broch K, Andreassen AK, Hopp E, Leren TP, Scott H, Müller F, Aakhus S, Gullestad L (2015)
Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy
Open Heart, 2 (1), e000271
DOI 10.1136/openhrt-2015-000271, PubMed 26468400

Braathen GJ, Høyer H, Busk ØL, Tveten K, Skjelbred CF, Russell MB (2015)
Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot-Marie-Tooth disease in a Norwegian family
Acta Neurol Scand, 134 (1), 67-75
DOI 10.1111/ane.12515, PubMed 26517670

Holla ØL, Busk ØL, Tveten K, Hilmarsen HT, Strand L, Høyer H, Bakken A, Skjelbred CF, Braathen GJ (2015)
Clinical exome sequencing – Norwegian findings
Tidsskr Nor Laegeforen, 135 (20), 1833-7
DOI 10.4045/tidsskr.14.1442, PubMed 26534809

Hopkins PN, Defesche J, Fouchier SW, Bruckert E, Luc G, Cariou B, Sjouke B, Leren TP, Harada-Shiba M, Mabuchi H, Rabès JP, Carrié A, van Heyningen C, Carreau V, Farnier M, Teoh YP, Bourbon M, Kawashiri MA, Nohara A, Soran H, Marais AD, Tada H, Abifadel M, Boileau C, Chanu B et al. (2015)
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

Høyer H, Busk ØL, Holla ØL, Strand L, Russell MB, Skjelbred CF, Braathen GJ (2015)
Hereditary peripheral neuropathies diagnosed by next-generation sequencing
Tidsskr Nor Laegeforen, 135 (20), 1838-44
DOI 10.4045/tidsskr.14.1002, PubMed 26534810

Langslet G, Bogsrud MP, Halvorsen I, Fjeldstad H, Retterstøl K, Veierød MB, Ose L (2015)
Long-term follow-up of young adults with familial hypercholesterolemia after participation in clinical trials during childhood
J Clin Lipidol, 9 (6), 778-785
DOI 10.1016/j.jacl.2015.08.008, PubMed 26687698

Mundal L, Sarancic M, Ose L, Iversen PO, Borgan JK, Veierød MB, Leren TP, Retterstøl K (2015)
[Increased mortality in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 135 (11), 1024-5
DOI 10.4045/tidsskr.15.0244, PubMed 26080775

Strøm TB, Laerdahl JK, Leren TP (2015)
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

Vallejo-Vaz AJ, Kondapally Seshasai SR, Cole D, Hovingh GK, Kastelein JJ, Mata P, Raal FJ, Santos RD, Soran H, Watts GF, Abifadel M, Aguilar-Salinas CA, Akram A, Alnouri F, Alonso R, Al-Rasadi K, Banach M, Bogsrud MP, Bourbon M, Bruckert E, Car J, Corral P, Descamps O, Dieplinger H, Durst R et al. (2015)
Familial hypercholesterolaemia: A global call to arms
Atherosclerosis, 243 (1), 257-9
DOI 10.1016/j.atherosclerosis.2015.09.021, PubMed 26408930

Publications 2014

Berge KE, Retterstøl K, Romeo S, Pirazzi C, Leren TP (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

Christiansen M, Hedley PL, Theilade J, Stoevring B, Leren TP, Eschen O, Sørensen KM, Tybjærg-Hansen A, Ousager LB, Pedersen LN, Frikke-Schmidt R, Aidt FH, Hansen MG, Hansen J, Bloch Thomsen PE, Toft E, Henriksen FL, Bundgaard H, Jensen HK, Kanters JK (2014)
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

Helgeland H, Sandve SR, Torgersen JS, Halle MK, Sundvold H, Omholt S, Våge DI (2014)
The evolution and functional divergence of the beta-carotene oxygenase gene family in teleost fish--exemplified by Atlantic salmon
Gene, 543 (2), 268-74
DOI 10.1016/j.gene.2014.02.042, PubMed 24583166

Leren TP (2014)
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

Mundal L, Sarancic M, Ose L, Iversen PO, Borgan JK, Veierød MB, Leren TP, Retterstøl K (2014)
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

Strøm TB, Tveten K, Laerdahl JK, Leren TP (2014)
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

Strøm TB, Tveten K, Leren TP (2014)
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

Almaas VM, Haugaa KH, Strøm EH, Scott H, Dahl CP, Leren TP, Geiran OR, Endresen K, Edvardsen T, Aakhus S, Amlie JP (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

Baumann M, Espeland MZ, Kværner AS, Bogsrud MP, Retterstøl K (2013)
[Lipid profile of healthy persons with low-carbohydrate diet]
Tidsskr Nor Laegeforen, 133 (11), 1193-6
DOI 10.4045/tidsskr.12.0034, PubMed 23759780

Baumann M, Espeland MZ, Kværner AS, Bogsrud MP, Retterstøl K (2013)
[M. Baumann and colleagues replies]
Tidsskr Nor Laegeforen, 133 (16), 1685-6
DOI 10.4045/tidsskr.13.1023, PubMed 24005696

Berge KE, Leren TP (2013)
Genetics of hypertrophic cardiomyopathy in Norway
Clin Genet, 86 (4), 355-60
DOI 10.1111/cge.12286, PubMed 24111713

Bogsrud MP, Langslet G, Ose L, Arnesen KE, Sm Stuen MC, Malt UF, Woldseth B, Retterstøl K (2013)
No effect of combined coenzyme Q10 and selenium supplementation on atorvastatin-induced myopathy
Scand Cardiovasc J, 47 (2), 80-7
DOI 10.3109/14017431.2012.756119, PubMed 23301875

Bogsrud MP, Reikvam Å, Retterstøl K (2013)
[Treatment with statins]
Tidsskr Nor Laegeforen, 133 (12-13), 1316-9
DOI 10.4045/tidsskr.12.0825, PubMed 23817262

Hasselberg NE, Edvardsen T, Petri H, Berge KE, Leren TP, Bundgaard H, Haugaa KH (2013)
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

Holven KB, Retterstøl K, Ueland T, Ulven SM, Nenseter MS, Sandvik M, Narverud I, Berge KE, Ose L, Aukrust P, Halvorsen B (2013)
Subjects with low plasma HDL cholesterol levels are characterized by an inflammatory and oxidative phenotype
PLoS One, 8 (11), e78241
DOI 10.1371/journal.pone.0078241, PubMed 24244297

Pareek M, Pedersen RL, Leren TP, Jensen HK (2013)
[Weight loss pills purchased on the internet as the cause of ventricular fibrillation]
Ugeskr Laeger, 175 (11), 739-40
PubMed 23480888

Stormo C, Bogsrud MP, Hermann M, Åsberg A, Piehler AP, Retterstøl K, Kringen MK (2013)
UGT1A1*28 is associated with decreased systemic exposure of atorvastatin lactone
Mol Diagn Ther, 17 (4), 233-7
DOI 10.1007/s40291-013-0031-x, PubMed 23580084

Tveten K, Str M TB, Berge KE, Leren TP (2013)
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

Cameron J, Bogsrud MP, Tveten K, Strøm TB, Holven K, Berge KE, Leren TP (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

Græsdal A, Bogsrud MP, Holven KB, Nenseter MS, Narverud I, Langslet G, Brekke M, Retterstøl K, Arnesen KE, Ose L (2012)
Apheresis in homozygous familial hypercholesterolemia: the results of a follow-up of all Norwegian patients with homozygous familial hypercholesterolemia
J Clin Lipidol, 6 (4), 331-9
DOI 10.1016/j.jacl.2012.03.004, PubMed 22836070

Larsen MK, Berge KE, Leren TP, Nissen PH, Hansen J, Kristensen IB, Banner J, Jensen HK (2012)
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

Marduel M, Ouguerram K, Serre V, Bonnefont-Rousselot D, Marques-Pinheiro A, Erik Berge K, Devillers M, Luc G, Lecerf JM, Tosolini L, Erlich D, Peloso GM, Stitziel N, Nitchké P, Jaïs JP, French Research Network on ADH, Abifadel M, Kathiresan S, Leren TP, Rabès JP, Boileau C, Varret M (2012)
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

Nenseter MS, Bogsrud MP, Græsdal A, Narverud I, Halvorsen B, Ose L, Aukrust P, Holven KB (2012)
LDL-apheresis affects markers of endothelial function in patients with homozygous familial hypercholesterolemia
Thromb Res, 130 (5), 823-5
DOI 10.1016/j.thromres.2012.06.004, PubMed 22728023

Nenseter MS, Narverud I, Græsdal A, Bogsrud MP, Aukrust P, Retterstøl K, Ose L, Halvorsen B, Holven KB (2012)
Cholesterol efflux mediators in homozygous familial hypercholesterolemia patients on low-density lipoprotein apheresis
J Clin Lipidol, 7 (2), 109-16
DOI 10.1016/j.jacl.2012.08.001, PubMed 23415429

Nenseter MS, Narverud I, Græsdal A, Bogsrud MP, Halvorsen B, Ose L, Aukrust P, Holven KB (2012)
Elevated serum MMP-9/TIMP-1 ratio in patients with homozygous familial hypercholesterolemia: effects of LDL-apheresis
Cytokine, 61 (1), 194-8
DOI 10.1016/j.cyto.2012.09.016, PubMed 23131422

Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP (2012)
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

Winkel BG, Larsen MK, Berge KE, Leren TP, Nissen PH, Olesen MS, Hollegaard MV, Jespersen T, Yuan L, Nielsen N, Haunsø S, Svendsen JH, Wang Y, Kristensen IB, Jensen HK, Tfelt-Hansen J, Banner J (2012)
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

Holla ØL, Cameron J, Tveten K, Strøm TB, Berge KE, Laerdahl JK, Leren TP (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

Holla ØL, Laerdahl JK, Strøm TB, Tveten K, Cameron J, Berge KE, Leren TP (2011)
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

Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J (2011)
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

Leren TP, Berge KE (2011)
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

Mousavi SA, Berge KE, Berg T, Leren TP (2011)
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

Sarvari SI, Haugaa KH, Anfinsen OG, Leren TP, Smiseth OA, Kongsgaard E, Amlie JP, Edvardsen T (2011)
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

Skottheim IB, Bogsrud MP, Hermann M, Retterstøl K, Åsberg A (2011)
Atorvastatin metabolite measurements as a diagnostic tool for statin-induced myopathy
Mol Diagn Ther, 15 (4), 221-7
DOI 10.1007/BF03256413, PubMed 21815705

Strøm EH, Sund S, Reier-Nilsen M, Dørje C, Leren TP (2011)
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

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
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

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP (2011)
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

Sundvold H, Helgeland H, Baranski M, Omholt SW, Våge DI (2011)
Characterisation of a novel paralog of scavenger receptor class B member I (SCARB1) in Atlantic salmon (Salmo salar)
BMC Genet, 12, 52
DOI 10.1186/1471-2156-12-52, PubMed 21619714

Toleikyte I, Retterstøl K, Leren TP, Iversen PO (2011)
Pregnancy outcomes in familial hypercholesterolemia: a registry-based study
Circulation, 124 (15), 1606-14
DOI 10.1161/CIRCULATIONAHA.110.990929, PubMed 21911783

Tveten K, Holla ØL, Cameron J, Strøm TB, Berge KE, Laerdahl JK, Leren TP (2011)
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

Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP (2011)
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

Berge KE, Leren TP (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

Bogsrud MP, Ose L, Langslet G, Ottestad I, Strøm EC, Hagve TA, Retterstøl K (2010)
HypoCol (red yeast rice) lowers plasma cholesterol - a randomized placebo controlled study
Scand Cardiovasc J, 44 (4), 197-200
DOI 10.3109/14017431003624123, PubMed 20636227

Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T (2010)
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

Haugaa KH, Leren IS, Berge KE, Bathen J, Loennechen JP, Anfinsen OG, Früh A, Edvardsen T, Kongsgård E, Leren TP, Amlie JP (2010)
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

Kulseth MA, Berge KE, Bogsrud MP, Leren TP (2010)
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

Leren IS, Haugaa KH, Edvardsen T, Anfinsen OG, Kongsgård E, Berge KE, Leren TP, Amlie JP (2010)
[Catecholaminergic polymorphic ventricular tachycardia]
Tidsskr Nor Laegeforen, 130 (2), 139-42
DOI 10.4045/tidsskr.09.0529, PubMed 20125202

Möller T, Leren TP, Eiklid KL, Holmstrøm H, Fredriksen PM, Thaulow E (2010)
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

Siem G, Fagerheim T, Jonsrud C, Laurent C, Teig E, Harris S, Leren TP, Früh A, Heimdal K (2010)
Causes of hearing impairment in the Norwegian paediatric cochlear implant program
Int J Audiol, 49 (8), 596-605
DOI 10.3109/14992021003743269, PubMed 20553101

Skinner JR, Crawford J, Smith W, Aitken A, Heaven D, Evans CA, Hayes I, Neas KR, Stables S, Koelmeyer T, Denmark L, Vuletic J, Maxwell F, White K, Yang T, Roden DM, Leren TP, Shelling A, Love DR, Cardiac Inherited Disease Group New Zealand (2010)
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

Strøm TB, Holla ØL, Tveten K, Cameron J, Berge KE, Leren TP (2010)
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

Cameron J, Holla ØL, Kulseth MA, Leren TP, Berge KE (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

Cameron J, Ranheim T, Halvorsen B, Kulseth MA, Leren TP, Berge KE (2009)
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

Haugaa KH, Edvardsen T, Leren TP, Smiseth OA, Amlie JP (2009)
Abnormal left ventricular relaxation in patients with long QT syndrome: reply
Eur. Heart J., 30 (22), 2814-2815
DOI 10.1093/eurheartj/ehp445

Haugaa KH, Leren TP, Amlie JP (2009)
Genetic testing in specific cardiomyopathies
F1000 Med Rep, 1
DOI 10.3410/M1-52, PubMed 20948728

Holla ØL, Kulseth MA, Berge KE, Leren TP, Ranheim T (2009)
Nonsense-mediated decay of human LDL receptor mRNA
Scand J Clin Lab Invest, 69 (3), 409-17
DOI 10.1080/00365510802707163, PubMed 19148831

Holla ØL, Nakken S, Mattingsdal M, Ranheim T, Berge KE, Defesche JC, Leren TP (2009)
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

Holla ØL, Strøm TB, Cameron J, Berge KE, Leren TP (2009)
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

Holst AG, Calloe K, Jespersen T, Cedergreen P, Winkel BG, Jensen HK, Leren TP, Haunso S, Svendsen JH, Tfelt-Hansen J (2009)
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

Leigh SE, Leren TP, Humphries SE (2009)
Commentary PCSK9 variants: A new database
Atherosclerosis, 203 (1), 32-3
DOI 10.1016/j.atherosclerosis.2009.02.006, PubMed 19249440

Leren TP, Berge KE (2009)
Comparison of clinical and molecular genetic criteria for diagnosing familial hypercholesterolemia
Clin. Lipidol., 4 (3), 303-310
DOI 10.2217/CLP.09.24

Mousavi SA, Berge KE, Leren TP (2009)
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

Nakken KE, Nygard S, Haaland TK, Berge KE, Ødegaard A, Labori KJ, Raeder MG (2009)
Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/-) mice
Scand J Gastroenterol, 44 (2), 211-8
DOI 10.1080/00365520802400867, PubMed 18785065

Samulin J, Berget I, Grindflek E, Lien S, Sundvold H (2009)
Changes in lipid metabolism associated gene transcripts during porcine adipogenesis
Comp Biochem Physiol B Biochem Mol Biol, 153 (1), 8-17
DOI 10.1016/j.cbpb.2008.12.019, PubMed 19416703

Strøm TB, Holla ØL, Cameron J, Berge KE, Leren TP (2009)
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

Sundvold H, Ruyter B, Ostbye TK, Moen T (2009)
Identification of a novel allele of peroxisome proliferator-activated receptor gamma (PPARG) and its association with resistance to Aeromonas salmonicida in Atlantic salmon (Salmo salar)
Fish Shellfish Immunol, 28 (2), 394-400
DOI 10.1016/j.fsi.2009.11.023, PubMed 20004720

Tajsharghi H, Leren TP, Abdul-Hussein S, Tulinius M, Brunvand L, Dahl HM, Oldfors A (2009)
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

Torstensen BE, Nanton DA, Olsvik PA, Sundvold H, Stubhaug I (2009)
Gene expression of fatty acid-binding proteins, fatty acid transport proteins (cd36 and FATP) and beta-oxidation-related genes in Atlantic salmon (Salmo salar L.) fed fish oil or vegetable oil
Aquac. Nutr., 15 (4), 440-451
DOI 10.1111/j.1365-2095.2008.00609.x

Tveten K, Khoo KL, Berge KE, Leren TP, Kulseth MA (2009)
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

Tveten K, Ranheim T, Berge KE, Leren TP, Kulseth MA (2009)
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

Aurlien D, Leren TP, Taubøll E, Gjerstad L (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

Berge KE, Haugaa KH, Früh A, Anfinsen OG, Gjesdal K, Siem G, Oyen N, Greve G, Carlsson A, Rognum TO, Hallerud M, Kongsgård E, Amlie JP, Leren TP (2008)
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

Bjørnstad PG, Leren TP (2008)
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

Cameron J, Holla OL, Laerdahl JK, Kulseth MA, Ranheim T, Rognes T, Berge KE, Leren TP (2008)
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

Cameron J, Holla ØL, Berge KE, Kulseth MA, Ranheim T, Leren TP, Laerdahl JK (2008)
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

Cameron J, Holla ØL, Laerdahl JK, Kulseth MA, Berge KE, Leren TP (2008)
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

Cameron J, Ranheim T, Kulseth MA, Leren TP, Berge KE (2008)
Berberine decreases PCSK9 expression in HepG2 cells
Atherosclerosis, 201 (2), 266-73
DOI 10.1016/j.atherosclerosis.2008.02.004, PubMed 18355829

Graven T, Loennechen JP, Leren TP (2008)
[Brugada syndrome]
Tidsskr Nor Laegeforen, 128 (24), 2828-31
PubMed 19092950

Haugaa KH, Edvardsen T, Leren TP, Gran JM, Smiseth OA, Amlie JP (2008)
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

Leren TP, Berge KE (2008)
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

Leren TP, Finborud TH, Manshaus TE, Ose L, Berge KE (2008)
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

Mulatinho M, Llerena J, Leren TP, Rao PN, Quintero-Rivera F (2008)
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

Nakken KE, Labori KJ, Rødningen OK, Nakken S, Berge KE, Eiklid K, Raeder MG (2008)
ABCB4 sequence variations in young adults with cholesterol gallstone disease
Liver Int, 29 (5), 743-7
DOI 10.1111/j.1478-3231.2008.01914.x, PubMed 19018976

Ranheim T, Mattingsdal M, Lindvall JM, Holla OL, Berge KE, Kulseth MA, Leren TP (2008)
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

Samulin J, Berg PR, Sundvold H, Grindflek E, Lien S (2008)
Expression of DLK1 splice variants during porcine adipocyte development in vitro and in vivo
Anim Genet, 40 (2), 239-41
DOI 10.1111/j.1365-2052.2008.01812.x, PubMed 19032696

Samulin J, Berget I, Lien S, Sundvold H (2008)
Differential gene expression of fatty acid binding proteins during porcine adipogenesis
Comp Biochem Physiol B Biochem Mol Biol, 151 (2), 147-52
DOI 10.1016/j.cbpb.2008.06.010, PubMed 18621139

Samulin J, Lien S, Grindflek E, Berget I, Ruyter B, Sundvold H (2008)
Depot specific differences during adipogenesis of porcine stromal-vascular cells
Cell Biol Int, 32 (5), 525-31
DOI 10.1016/j.cellbi.2008.01.001, PubMed 18299211

Siem G, Früh A, Leren TP, Heimdal K, Teig E, Harris S (2008)
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

Starr B, Hadfield SG, Hutten BA, Lansberg PJ, Leren TP, Damgaard D, Neil HA, Humphries SE (2008)
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

Todorcević M, Vegusdal A, Gjøen T, Sundvold H, Torstensen BE, Kjaer MA, Ruyter B (2008)
Changes in fatty acids metabolism during differentiation of Atlantic salmon preadipocytes; effects of n-3 and n-9 fatty acids
Biochim Biophys Acta, 1781 (6-7), 326-35
DOI 10.1016/j.bbalip.2008.04.014, PubMed 18503782

Publications 2007

Bogsrud MP, Sogstad A, Retterstøl K (2007)
[Practical advice for registration of clinical trials]
Tidsskr Nor Laegeforen, 127 (12), 1654-6
PubMed 17571106

Djurovic S, Berge KE, Birkenes B, Braaten Ø, Retterstøl L (2007)
The effect of red wine on plasma leptin levels and vasoactive factors from adipose tissue: a randomized crossover trial
Alcohol Alcohol, 42 (6), 525-8
DOI 10.1093/alcalc/agm056, PubMed 17670801

García-Pavía P, Segovia J, Molano J, Mora R, Kontny F, Erik Berge K, Leren TP, Alonso-Pulpón L (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

Grøndahl J, Riise R, Heiberg A, Leren T, Christoffersen T, Bragadottir R (2007)
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

Holla ØL, Cameron J, Berge KE, Ranheim T, Leren TP (2007)
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

Leren TP, Manshaus TE, Ose L, Berge KE (2007)
[Lipid profile in children and adolescents with familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 127 (18), 2363-6
PubMed 17895939

Nakken KE, Nygård S, Haaland T, Berge KE, Arnkvaern K, Ødegaard A, Labori KJ, Raeder MG (2007)
Multiple inflammatory-, tissue remodelling- and fibrosis genes are differentially transcribed in the livers of Abcb4 (-/ - ) mice harbouring chronic cholangitis
Scand J Gastroenterol, 42 (10), 1245-55
DOI 10.1080/00365520701320521, PubMed 17852852

Tveten K, Holla ØL, Ranheim T, Berge KE, Leren TP, Kulseth MA (2007)
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

Berge KE, Ose L, Leren TP (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

Cameron J, Holla ØL, Ranheim T, Kulseth MA, Berge KE, Leren TP (2006)
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

Hermann M, Bogsrud MP, Molden E, Asberg A, Mohebi BU, Ose L, Retterstøl K (2006)
Exposure of atorvastatin is unchanged but lactone and acid metabolites are increased several-fold in patients with atorvastatin-induced myopathy
Clin Pharmacol Ther, 79 (6), 532-9
DOI 10.1016/j.clpt.2006.02.014, PubMed 16765141

Holla ØL, Cameron J, Berge KE, Kulseth MA, Ranheim T, Leren TP (2006)
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

Kleveland EJ, Ruyter B, Vegusdal A, Sundvold H, Berge RK, Gjøen T (2006)
Effects of 3-thia fatty acids on expression of some lipid related genes in Atlantic salmon (Salmo salar L.)
Comp Biochem Physiol B Biochem Mol Biol, 145 (2), 239-48
DOI 10.1016/j.cbpb.2006.07.012, PubMed 16971150

Ranheim T, Kulseth MA, Berge KE, Leren TP (2006)
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

Tveten K, Ranheim T, Berge KE, Leren TP, Kulseth MA (2006)
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

Berge KE, Haugaa KH, Anfinsen OG, Früh A, Hallerud M, Jonsrud C, Øyen N, Gjesdal K, Amlie JP, Leren TP (2005)
[DNA-based diagnostics of long QT syndrome]
Tidsskr Nor Laegeforen, 125 (20), 2783-6
PubMed 16244680

Haugaa KH, Berge KE, Früh A, Anfinsen OG, Arnestad M, Hallerud M, Gjesdal K, Leren TP, Amlie JP (2005)
[Cardiac ion channel disorders--diagnosis and treatment]
Tidsskr Nor Laegeforen, 125 (20), 2778-81
PubMed 16244679

Holla Ø, Teie C, Berge KE, Leren TP (2005)
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

Retterstol L, Berge KE, Braaten Ø, Eikvar L, Pedersen TR, Sandvik L (2005)
A daily glass of red wine: does it affect markers of inflammation?
Alcohol Alcohol, 40 (2), 102-5
DOI 10.1093/alcalc/agh132, PubMed 15642722

Roussa E, Bertram J, Berge KE, Labori KJ, Thévenod F, Raeder MG (2005)
Differential regulation of vacuolar H+ -ATPase and Na+/H+ exchanger 3 in rat cholangiocytes after bile duct ligation
Histochem Cell Biol, 125 (4), 419-28
DOI 10.1007/s00418-005-0082-0, PubMed 16267653

Sørensen S, Ranheim T, Bakken KS, Leren TP, Kulseth MA (2005)
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

Grindflek E, Hoen N, Sundvold H, Rothschild MF, Plastow G, Lien S (2004)
Investigation of a peroxisome proliferator-activated receptor gamma haplotype effect on meat quality and carcass traits in pigs
Anim Genet, 35 (3), 238-41
DOI 10.1111/j.1365-2052.2004.01126.x, PubMed 15147398

Hovland A, Bjørbaek E, Leren TP (2004)
[Gitelman's syndrome--a differential diagnosis in hypokalemia]
Tidsskr Nor Laegeforen, 124 (8), 1093-4
PubMed 15114386

Hubácek JA, Berge KE, Stefková J, Pitha J, Skodová Z, Lánská V, Poledne R (2004)
Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels
Physiol Res, 53 (4), 395-401
PubMed 15311998

Leren TP (2004)
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

Leren TP (2004)
Cascade genetic screening for familial hypercholesterolemia
Clin Genet, 66 (6), 483-7
DOI 10.1111/j.1399-0004.2004.00320.x, PubMed 15521974

Leren TP, Manshaus T, Ose L (2004)
[A family-based strategy for diagnosing familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 124 (9), 1228-9
PubMed 15131703

Leren TP, Manshaus T, Skovholt U, Skodje T, Nossen IE, Teie C, Sørensen S, Bakken KS (2004)
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

Pasalić D, Jurcić Z, Stipancić G, Ferencak G, Leren TP, Djurovic S, Stavljenić-Rukavina A (2004)
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 2003

Berge KE (2003)
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism
Ann Med, 35 (7), 502-11
DOI 10.1080/07853890310014588, PubMed 14649332

Vegusdal A, Sundvold H, Gjøen T, Ruyter B (2003)
An in vitro method for studying the proliferation and differentiation of Atlantic salmon preadipocytes
Lipids, 38 (3), 289-96
DOI 10.1007/s11745-003-1063-3, PubMed 12784870

Publications 2002

Berge KE, von Bergmann K, Lutjohann D, Guerra R, Grundy SM, Hobbs HH, Cohen JC (2002)
Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8
J Lipid Res, 43 (3), 486-94
PubMed 11893785

Langeggen H, Berge KE, Johnson E, Hetland G (2002)
Human umbilical vein endothelial cells express complement receptor 1 (CD35) and complement receptor 4 (CD11c/CD18) in vitro
Inflammation, 26 (3), 103-10
DOI 10.1023/a:1015585530204, PubMed 12083416

Leren TP (2002)
[How common is familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 122 (25), 2484
PubMed 12448123

Repa JJ, Berge KE, Pomajzl C, Richardson JA, Hobbs H, Mangelsdorf DJ (2002)
Regulation of ATP-binding cassette sterol transporters ABCG5 and ABCG8 by the liver X receptors alpha and beta
J Biol Chem, 277 (21), 18793-800
DOI 10.1074/jbc.M109927200, PubMed 11901146

Yu L, Li-Hawkins J, Hammer RE, Berge KE, Horton JD, Cohen JC, Hobbs HH (2002)
Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol
J Clin Invest, 110 (5), 671-80
DOI 10.1172/JCI16001, PubMed 12208868

Publications 2001

Fossum E, Berge KE, Høieggen A, Moan A, Rostrup M, Kjeldsen SE, Eide I, Berg K (2001)
Polymorphisms in candidate genes for blood pressure regulation in young men with normal or elevated screening blood pressure
Blood Press, 10 (2), 92-100
DOI 10.1080/08037050152112078, PubMed 11467765

Hubacek JA, Berge KE, Cohen JC, Hobbs HH (2001)
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia
Hum Mutat, 18 (4), 359-60
DOI 10.1002/humu.1206, PubMed 11668628

Langeggen H, Berge KE, Macor P, Fischetti F, Tedesco F, Hetland G, Berg K, Johnson E (2001)
Detection of mRNA for the terminal complement components C5, C6, C8 and C9 in human umbilical vein endothelial cells in vitro
APMIS, 109 (1), 73-8
DOI 10.1111/j.1600-0463.2001.tb00016.x, PubMed 11297196

Leren TP, Tonstad S, Ose L (2001)
[Familial hypercholesterolemia--prognosis and treatment]
Tidsskr Nor Laegeforen, 121 (13), 1635
PubMed 11446054

Leren TP, Tonstad S, Ose L (2001)
[Genetic screening and treatment in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 121 (13), 1635-6
PubMed 11446055

Sundvold H, Grindflek E, Lien S (2001)
Tissue distribution of porcine peroxisome proliferator-activated receptor alpha: detection of an alternatively spliced mRNA
Gene, 273 (1), 105-13
DOI 10.1016/s0378-1119(01)00562-5, PubMed 11483366

Sundvold H, Lien S (2001)
Identification of a novel peroxisome proliferator-activated receptor (PPAR) gamma promoter in man and transactivation by the nuclear receptor RORalpha1
Biochem Biophys Res Commun, 287 (2), 383-90
DOI 10.1006/bbrc.2001.5602, PubMed 11554739

Publications 2000

Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH (2000)
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
Science, 290 (5497), 1771-5
DOI 10.1126/science.290.5497.1771, PubMed 11099417

Björn Lundahl, Leren TP, Ose L, Hamsten A, Karpe F (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

Brzozowska A, Sundvold H, Lien S, Rogne S (2000)
Evolutionary conservation of the apolipoprotein E-C1-C2 gene cluster on bovine chromosome 18q24
Gene, 241 (2), 241-5
DOI 10.1016/s0378-1119(99)00492-8, PubMed 10675035

Braaten O, Rødningen OK, Nordal I, Leren TP (2000)
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

Grindflek E, Sundvold H, Lien S, Rothschild MF (2000)
Rapid communication: physical and genetic mapping of the Peroxisome Proliferator Activated Receptor gamma (PPAR-gamma) gene to porcine chromosome 13
J Anim Sci, 78 (5), 1391-2
DOI 10.2527/2000.7851391x, PubMed 10834598

Tonstad S, Joakimsen O, Leren TP, Ose L (2000)
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

Tranebjaerg L, Leren T (2000)
[Medical genetics--knowledge with many challenges in the new century]
Tidsskr Nor Laegeforen, 120 (7), 852-3
PubMed 10806912

Publications 1999

Daum U, Leren TP, Langer C, Chirazi A, Cullen P, Pritchard PH, Assmann G, von Eckardstein A (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

Rødningen OK, Tonstad S, Medh JD, Chappell DA, Ose L, Leren TP (1999)
Phenotypic consequences of a deletion of exons 2 and 3 of the LDL receptor gene
J Lipid Res, 40 (2), 213-20
PubMed 9925649

Rødningen OK, Tonstad S, Saugstad OD, Ose L, Leren TP (1999)
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

Berge KE, Berg K (1998)
Polymorphisms at the angiotensinogen (AGT) and angiotensin II type 1 receptor (AT1R) loci and normal blood pressure
Clin Genet, 53 (3), 214-9
DOI 10.1111/j.1399-0004.1998.tb02680.x, PubMed 9630078

Grindflek E, Sundvold H, Klungland H, Lien S (1998)
Characterisation of porcine peroxisome proliferator-activated receptors gamma 1 and gamma 2: detection of breed and age differences in gene expression
Biochem Biophys Res Commun, 249 (3), 713-8
DOI 10.1006/bbrc.1998.9212, PubMed 9731203

Leren TP, Bakken KS, Hoel V, Hjermann I, Berg K (1998)
Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia
Hum Genet, 102 (1), 44-9
DOI 10.1007/s004390050651, PubMed 9490296

Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (1998)
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

Tonstad S, Joakimsen O, Stensland-Bugge E, Ose L, Bønaa KH, Leren TP (1998)
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

Berge KE, Bakken A, Bøhn M, Erikssen J, Berg K (1997)
A DNA polymorphism at the angiotensin II type 1 receptor (AT1R) locus and myocardial infarction
Clin Genet, 52 (2), 71-6
DOI 10.1111/j.1399-0004.1997.tb02521.x, PubMed 9298740

Berge KE, Bakken A, Bøhn M, Erikssen J, Berg K (1997)
Analyses of mutations in the human renal kallikrein (hKLK1) gene and their possible relevance to blood pressure regulation and risk of myocardial infarction
Clin Genet, 52 (2), 86-95
DOI 10.1111/j.1399-0004.1997.tb02524.x, PubMed 9298743

Berge KE, Berg K (1997)
Cardiovascular risk factors in people with different genotypes in the insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme (ACE)
Clin Genet, 52 (6), 422-6
DOI 10.1111/j.1399-0004.1997.tb02562.x, PubMed 9520252

Berge KE, Djurovic S, Muller HJ, Alestrøm P, Berg K (1997)
Studies on effects of Lp(a) lipoprotein on gene expression in endothelial cells in vitro
Clin Genet, 52 (5), 314-25
DOI 10.1111/j.1399-0004.1997.tb04349.x, PubMed 9520122

Leren TP, Bakken KS, Daum U, Ose L, Berg K, Assmann G, von Eckardstein A (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

Leren TP, Bakken KS, Rødningen OK, Gundersen KE, Sundvold H, Berg K, Tonstad S, Ose L (1997)
[Application of gene technology in the diagnosis of familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 117 (5), 678-81
PubMed 9102960

Leren TP, Ose L (1997)
[Is there a need for genetic/molecular diagnosis of familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 117 (5), 681-3
PubMed 9102961

Leren TP, Tonstad S, Gundersen KE, Bakken KS, Rødningen OK, Sundvold H, Ose L, Berg K (1997)
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

Lien S, Sundvold H, Klungland H, Vage DI (1997)
Two novel polymorphisms in the bovine obesity gene (OBS)
Anim. Genet., 28 (3), 245

Sundvold H, Brzozowska A, Lien S (1997)
Characterisation of bovine peroxisome proliferator-activated receptors gamma 1 and gamma 2: genetic mapping and differential expression of the two isoforms
Biochem Biophys Res Commun, 239 (3), 857-61
DOI 10.1006/bbrc.1997.7564, PubMed 9367859

Sundvold H, Olsaker I, Gomez-Raya L, Lien S (1997)
The gene encoding the peroxisome proliferator-activated receptor (PPARA) maps to chromosome 5 in cattle
Anim Genet, 28 (5), 374
DOI 10.1111/j.1365-2052.1997.tb03275.x, PubMed 9363607

Tonstad S, Leren TP, Ose L (1997)
[Diagnosis and treatment of severe hyperlipidemia]
Tidsskr Nor Laegeforen, 117 (29), 4241-4
PubMed 9441469

Urdal P, Leren TP, Tonstad S, Lund PK, Ose L (1997)
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

Berge V, Berge KE, Johnson E (1996)
Vitronectin modulates the expression of complement components of the terminal pathway synthesized by human umbilical vein endothelial cells in vitro
APMIS, 104 (7-8), 523-30
DOI 10.1111/j.1699-0463.1996.tb04907.x, PubMed 8920805

Berge V, Johnson E, Berge KE (1996)
Interleukin-1 alpha, interleukin 6 and tumor necrosis factor alpha increase the synthesis and expression of the functional alternative and terminal complement pathways by human umbilical vein endothelial cells in vitro
APMIS, 104 (3), 213-9
DOI 10.1111/j.1699-0463.1996.tb00710.x, PubMed 8611196

Bjune K, Stubhaug A, Dodgson MS, Breivik H (1996)
Additive analgesic effect of codeine and paracetamol can be detected in strong, but not moderate, pain after Caesarean section. Baseline pain-intensity is a determinant of assay-sensitivity in a postoperative analgesic trial
Acta Anaesthesiol Scand, 40 (4), 399-407
DOI 10.1111/j.1399-6576.1996.tb04460.x, PubMed 8738682

Gundersen KE, Solberg K, Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (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

Leren TP, Sundvold H, Rodningen OK, Tonstad S, Solberg K, Ose L, Berg K (1996)
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia (vol 95, pg 671, 1995)
Hum. Genet., 97 (2), 268
DOI 10.1007/BF02265281

Rødningen OK, Leren TP (1996)
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

Sundvold H, Klungland H, Vâge DI, Lien S (1996)
Linkage mapping of the apolipoprotein A-I gene to bovine chromosome 15
Mamm Genome, 7 (7), 561
DOI 10.1007/s003359900170, PubMed 8672146

Sundvold H, Solberg K, Tonstad S, Rødningen OK, Ose L, Berg K, Leren TP (1996)
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

Tonstad S, Joakimsen O, Stensland-Bugge E, Leren TP, Ose L, Russell D, Bønaa KH (1996)
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

Jo DW, Leren TP, Yang ZY, Chung YH, Taylor JM, Paik YK (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

Leren TP, Hjermann I (1995)
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

Leren TP, Rødningen OK, Tonstad S, Røsby O, Urdal P, Ose L (1995)
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

Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L (1995)
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

Leren TP, Sundvold H, Rødningen OK, Tonstad S, Solberg K, Ose L, Berg K (1995)
Screening for known mutations in the LDL receptor gene causing familial hypercholesterolemia
Hum Genet, 95 (6), 671-6
DOI 10.1007/BF00209485, PubMed 7789953

Løhne K, Urdal P, Leren TP, Tonstad S, Ose L (1995)
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

Tonstad S, Leren TP, Sivertsen M, Ose L (1995)
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

Berge KE, Berg K (1994)
No effect on blood pressure level or variability of polymorphisms in DNA at the locus for atrial natriuretic factor (ANF)
Clin Genet, 46 (6), 433-5
DOI 10.1111/j.1399-0004.1994.tb04412.x, PubMed 7889661

Berge KE, Berg K (1994)
No effect of a BglI polymorphism at the renin (REN) locus on blood pressure level or variability
Clin Genet, 46 (6), 436-8
DOI 10.1111/j.1399-0004.1994.tb04413.x, PubMed 7889662

Berge KE, Berg K (1994)
No effect of insertion/deletion polymorphism at the ACE locus on normal blood pressure level or variability
Clin Genet, 45 (4), 169-74
DOI 10.1111/j.1399-0004.1994.tb04017.x, PubMed 8062433

Berge KE, Bøhn M, Berg K (1994)
DNA polymorphism at the locus for angiotensinogen I-converting enzyme in Norwegian patients with myocardial infarction and controls
Clin Genet, 46 (1 Spec No), 102-4
DOI 10.1111/j.1399-0004.1994.tb04211.x, PubMed 7988066

Leren TP, Solberg K, Rødningen OK, Tonstad S, Ose L (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

Solberg K, Rødningen OK, Tonstad S, Ose L, Leren TP (1994)
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

Berge KE, Berg K (1993)
No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability
Clin Genet, 44 (4), 196-202
DOI 10.1111/j.1399-0004.1993.tb03879.x, PubMed 7903227

Bøhn M, Berge KE, Bakken A, Erikssen J, Berg K (1993)
Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and myocardial infarction
Clin Genet, 44 (6), 292-7
DOI 10.1111/j.1399-0004.1993.tb03903.x, PubMed 8131299

Bøhn M, Berge KE, Bakken A, Erikssen J, Berg K (1993)
Insertion/deletion (I/D) polymorphism at the locus for angiotensin I-converting enzyme and parental history of myocardial infarction
Clin Genet, 44 (6), 298-301
DOI 10.1111/j.1399-0004.1993.tb03904.x, PubMed 8131300

Eiklid K, Leren TP (1993)
[Genotyping of apolipoprotein E]
Tidsskr Nor Laegeforen, 113 (15), 1885
PubMed 8322337

Leren TP (1993)
[Molecular genetic causes of familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 113 (26), 3251-4
PubMed 8236220

Leren TP, Fagerhol MK, Leren P (1993)
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

Leren TP, Rødningen OK, Røsby O, Solberg K, Berg K (1993)
Screening for point mutations by semi-automated DNA sequencing using sequenase and magnetic beads
Biotechniques, 14 (4), 618-23
PubMed 8476605

Leren TP, Solberg K, Rødningen OK, Ose L, Tonstad S, Berg K (1993)
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

Leren TP, Solberg K, Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K (1993)
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

Rødningen OK, Leren TP, Røsby O, Tonstad S, Ose L, Berg K (1993)
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

Solberg K, Rødningen OK, Tonstad S, Ose L, Berg K, Leren TP (1993)
Short report on DNA marker at candidate locus
Clin Genet, 44 (2), 111
PubMed 8275559

Tuveng JM, Eik-Nes SH, Sviggum O, Isaksen C, Berg K, Leren TP, van der Hagen CB (1993)
[Karyotyping of fetuses with developmental disorders. A 5-year material 1985-89]
Tidsskr Nor Laegeforen, 113 (3), 339-42
PubMed 8441983

Publications 1992

Berge KE, Berg K (1992)
No effect of a Taq1 polymorphism in DNA at the endothelin I (EDN1) locus on normal blood pressure level or variability
Clin Genet, 41 (2), 90-5
DOI 10.1111/j.1399-0004.1992.tb03640.x, PubMed 1347490

Leren TP, Hjermann I, Foss OP, Leren P, Berg K (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

Leren TP, Solberg K, Røsby O, Rødningen OK, Tonstad S, Ose L, Berg K (1992)
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

Rødningen OK, Røsby O, Tonstad S, Ose L, Berg K, Leren TP (1992)
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

Røsby O, Poledne R, Hjermann I, Tonstad S, Berg K, Leren TP (1992)
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 1991

Berge KE, Berg K (1991)
A TaqI RFLP at the human renal kallikrein (KLK1) locus
Clin Genet, 40 (3), 256
DOI 10.1111/j.1399-0004.1991.tb03092.x, PubMed 1685360

Publications 1990

Berge KE, Berg K (1990)
A TaqI RFLP at the EDN1 gene locus
Nucleic Acids Res, 18 (20), 6176
DOI 10.1093/nar/18.20.6176-a, PubMed 1978292

Chang DJ, Paik YK, Leren TP, Walker DW, Howlett GJ, Taylor JM (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

Berg K, Leren TP (1989)
Unchanged serum lipoprotein (a) concentrations with lovastatin
Lancet, 2 (8666), 812
DOI 10.1016/s0140-6736(89)90884-2, PubMed 2571057

Publications 1988

Hjermann I, Leren T, Berg K, Leren P, Foss OP (1988)
[At last, an effective treatment of familial hypercholesterolemia?]
Tidsskr Nor Laegeforen, 108 (6), 493-6
PubMed 3281324

Leren TP, Berg K (1988)
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

Leren TP, Berg K, Hjermann I, Leren P (1988)
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

Leren TP, Blomhoff R, Berg K (1988)
Metabolism of low density lipoprotein after storage
J Oslo City Hosp, 38 (2), 21-6
PubMed 3361378

Leren TP, Hjermann I, Berg K, Leren P, Foss OP, Viksmoen L (1988)
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

Børresen AL, Leren T, Berg K, Solaas MH (1987)
Effect of haptoglobin subtypes on serum lipid levels
Hum Hered, 37 (3), 150-6
DOI 10.1159/000153693, PubMed 3583295

Leren TP, Tolleshaug H (1987)
[Biochemical defects in familial hypercholesterolemia]
Tidsskr Nor Laegeforen, 107 (32), 2855-7, 2848
PubMed 3321551

Publications 1986

Leren TP (1986)
[Total cholesterol. Reference values and criteria for treatment]
Tidsskr Nor Laegeforen, 106 (22), 1716-7
PubMed 3775706

Leren TP, Blomhoff R, Berg K (1986)
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

Leren TP (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

Leren TP, Berg K (1985)
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

Leren TP, Berg K (1985)
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

Leren TP, Blomhoff R, Berg K (1985)
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

Leren TP, Blomhoff R, Berg K (1985)
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

Leren TP, Børresen AL, Berg K, Hjermann I, Leren P (1985)
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

Leren TP, Hjermann I, Børresen AL, Berg K, Leren P (1985)
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

Leren TP, Hjermann I, Maartmann-Moe K, Beckmann SL, Leren P, Berg K (1985)
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

Leren TP, Maartmann-Moe K, Berg K (1985)
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

Leren TP, Maartmann-Moe K, Thune P, Berg K (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

Bruserud O, Leren TP (1983)
[Hyperosmolar nonketotic diabetic coma]
Tidsskr Nor Laegeforen, 103 (5), 519-21
PubMed 6868026

 
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