Knut Erik Berge
- Consultant; MD, PhD
Publications 2024
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
Relationship between physical and psychological functioning and health-related quality of life in congenital Aniridia
Acta Ophthalmol, 102 (5), 590-599
DOI 10.1111/aos.16615, PubMed 38131258
Publications 2018
Vigorous exercise in patients with hypertrophic cardiomyopathy
Int J Cardiol, 250, 157-163
DOI 10.1016/j.ijcard.2017.07.015, PubMed 29169752
[Cardiomyopathy in hereditary muscular dystrophies]
Tidsskr Nor Laegeforen, 138 (1)
DOI 10.4045/tidsskr.16.0683, PubMed 29313627
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
Publications 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
The systolic paradox in hypertrophic cardiomyopathy
Open Heart, 4 (1), e000571
DOI 10.1136/openhrt-2016-000571, PubMed 28674623
Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics
Lipids Health Dis, 16 (1), 115
DOI 10.1186/s12944-017-0511-9, PubMed 28606150
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
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
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
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 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
Publications 2013
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
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
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
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
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
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
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
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
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
Gene expression profiles reflect sclerosing cholangitis activity in abcb4 (-/-) mice
Scand J Gastroenterol, 44 (2), 211-8
DOI 10.1080/00365520802400867, PubMed 18785065
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
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
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
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
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
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
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
Publications 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
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
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
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
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
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
Publications 2004
Polymorphisms in ABCG5 and ABCG8 transporters and plasma cholesterol levels
Physiol Res, 53 (4), 395-401
PubMed 15311998
Publications 2003
Sitosterolemia: a gateway to new knowledge about cholesterol metabolism
Ann Med, 35 (7), 502-11
DOI 10.1080/07853890310014588, PubMed 14649332
Publications 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
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
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
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
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
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
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
Publications 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
Publications 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
Publications 1997
A study of candidate genes for control of blood pressure in healthy people and survivors of myocardial infarction
Institute of Medical Genetics, University of Oslo, Oslo, 1 b. (flere pag.)
BIBSYS 981161197, ISBN 82-994669-0-3
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
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
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
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
Publications 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
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
Publications 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
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
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
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
Publications 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
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
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
Publications 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
Publications 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
A TaqI RFLP at the EDN1 gene locus
Nucleic Acids Res, 18 (20), 6176
DOI 10.1093/nar/18.20.6176-a, PubMed 1978292