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Items: 1 to 50 of 169

1.

Characterization of the mechanisms by which missense mutations in the lysosomal acid lipase gene disrupt enzymatic activity.

Vinje T, Laerdahl JK, Bjune K, Leren TP, Strøm TB.

Hum Mol Genet. 2019 May 27. pii: ddz114. doi: 10.1093/hmg/ddz114. [Epub ahead of print]

PMID:
31131398
2.

Risk of Ischemic Stroke and Total Cerebrovascular Disease in Familial Hypercholesterolemia.

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

Stroke. 2018 Nov 21:STROKEAHA118023456. doi: 10.1161/STROKEAHA.118.023456. [Epub ahead of print]

PMID:
30580708
3.

MK-2206, an allosteric inhibitor of AKT, stimulates LDLR expression and LDL uptake: A potential hypocholesterolemic agent.

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

Atherosclerosis. 2018 Sep;276:28-38. doi: 10.1016/j.atherosclerosis.2018.07.009. Epub 2018 Jul 7.

PMID:
30025252
4.

Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.

Tuveng JM, Berling BM, Bunford G, Vanoye CG, Welch RC, Leren TP, George AL Jr, Rognum TO.

Forensic Sci Med Pathol. 2018 Sep;14(3):367-371. doi: 10.1007/s12024-018-9989-3. Epub 2018 Jun 8.

PMID:
29881912
5.

Impact of age on excess risk of coronary heart disease in patients with familial hypercholesterolaemia.

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

Heart. 2018 Oct;104(19):1600-1607. doi: 10.1136/heartjnl-2017-312706. Epub 2018 Apr 5.

6.

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

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

Nutr Metab Cardiovasc Dis. 2018 Feb;28(2):158-164. doi: 10.1016/j.numecd.2017.11.003. Epub 2017 Nov 22.

7.

Prevalence of cholesteryl ester storage disease among hypercholesterolemic subjects and functional characterization of mutations in the lysosomal acid lipase gene.

Vinje T, Wierød L, Leren TP, Strøm TB.

Mol Genet Metab. 2018 Feb;123(2):169-176. doi: 10.1016/j.ymgme.2017.11.008. Epub 2017 Nov 23.

PMID:
29196158
8.

Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation.

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

Eur Heart J. 2018 Mar 7;39(10):853-860. doi: 10.1093/eurheartj/ehx596.

9.

Increased risk of heart failure and atrial fibrillation in heterozygous familial hypercholesterolemia.

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

Atherosclerosis. 2017 Nov;266:69-73. doi: 10.1016/j.atherosclerosis.2017.09.027. Epub 2017 Sep 28.

PMID:
28992466
10.

[A 50-year-old man with proximal pareses and heart disease].

Ørstavik K, Garfelt B, Leren TP, Saberniak J, Haugaa K, Jonsrud C.

Tidsskr Nor Laegeforen. 2017 Sep 4;137(16). doi: 10.4045/tidsskr.16.0789. Print 2017 Sep 5. Norwegian. No abstract available.

11.

Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report.

Subasinghe CJ, Sirisena ND, Herath C, Berge KE, Leren TP, Bulugahapitiya U, Dissanayake VHW.

BMC Nephrol. 2017 Apr 26;18(1):140. doi: 10.1186/s12882-017-0563-0.

12.

Mutations affecting the transmembrane domain of the LDL receptor: impact of charged residues on the membrane insertion.

Strøm TB, Laerdahl JK, Leren TP.

Hum Mol Genet. 2017 May 1;26(9):1634-1642. doi: 10.1093/hmg/ddx068.

PMID:
28334946
13.
14.

Variable phenotypic expression of nonsense mutation p.Thr5* in the APOE gene.

Leren TP, Strøm TB, Berge KE.

Mol Genet Metab Rep. 2016 Oct 25;9:67-70. eCollection 2016 Dec.

15.

Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992-2013.

Mundal L, Igland J, Ose L, Holven KB, Veierød MB, Leren TP, Retterstøl K.

Eur J Prev Cardiol. 2017 Jan;24(2):137-144. doi: 10.1177/2047487316676135. Epub 2016 Oct 28.

PMID:
27794106
16.

Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia.

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

J Clin Lipidol. 2016 Jul-Aug;10(4):816-823. doi: 10.1016/j.jacl.2016.02.015. Epub 2016 Mar 10.

17.

Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994-2009, a registry study.

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

Eur J Prev Cardiol. 2016 Dec;23(18):1962-1969. doi: 10.1177/2047487316666371. Epub 2016 Sep 27.

PMID:
27558979
18.

Results of comprehensive diagnostic work-up in 'idiopathic' dilated cardiomyopathy.

Broch K, Andreassen AK, Hopp E, Leren TP, Scott H, Müller F, Aakhus S, Gullestad L.

Open Heart. 2015 Oct 9;2(1):e000271. doi: 10.1136/openhrt-2015-000271. eCollection 2015.

19.

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.

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, Katsuda S, Kishimoto I, Lambert G, Makino H, Miyamoto Y, Pichelin M, Yagi K, Yamagishi M, Zair Y, Mellis S, Yancopoulos GD, Stahl N, Mendoza J, Du Y, Hamon S, Krempf M, Swergold GD.

Circ Cardiovasc Genet. 2015 Dec;8(6):823-31. doi: 10.1161/CIRCGENETICS.115.001129. Epub 2015 Sep 15.

20.

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

Strøm TB, Laerdahl JK, Leren TP.

Hum Mol Genet. 2015 Oct 15;24(20):5836-44. doi: 10.1093/hmg/ddv304. Epub 2015 Jul 28.

PMID:
26220972
21.

[Increased mortality in familial hypercholesterolemia].

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

Tidsskr Nor Laegeforen. 2015 Jun 16;135(11):1024-5. doi: 10.4045/tidsskr.15.0244. eCollection 2015 Jun 16. Norwegian. No abstract available.

22.

Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010.

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

J Am Heart Assoc. 2014 Dec 2;3(6):e001236. doi: 10.1161/JAHA.114.001236.

23.

Sorting an LDL receptor with bound PCSK9 to intracellular degradation.

Leren TP.

Atherosclerosis. 2014 Nov;237(1):76-81. doi: 10.1016/j.atherosclerosis.2014.08.038. Epub 2014 Sep 2. Review.

PMID:
25222343
24.
25.

Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

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.

BMC Med Genet. 2014 Mar 7;15:31. doi: 10.1186/1471-2350-15-31.

26.

Type 1 hyperlipoproteinemia due to a novel deletion of exons 3 and 4 in the GPIHBP1 gene.

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

Atherosclerosis. 2014 May;234(1):30-3. doi: 10.1016/j.atherosclerosis.2014.02.005. Epub 2014 Feb 18.

PMID:
24589565
27.

PCSK9 acts as a chaperone for the LDL receptor in the endoplasmic reticulum.

Strøm TB, Tveten K, Leren TP.

Biochem J. 2014 Jan 1;457(1):99-105. doi: 10.1042/BJ20130930.

PMID:
24144304
28.

Genetics of hypertrophic cardiomyopathy in Norway.

Berge KE, Leren TP.

Clin Genet. 2014 Oct;86(4):355-60. doi: 10.1111/cge.12286. Epub 2013 Oct 23.

PMID:
24111713
29.

Risk prediction of ventricular arrhythmias and myocardial function in Lamin A/C mutation positive subjects.

Hasselberg NE, Edvardsen T, Petri H, Berge KE, Leren TP, Bundgaard H, Haugaa KH.

Europace. 2014 Apr;16(4):563-71. doi: 10.1093/europace/eut291. Epub 2013 Sep 20.

PMID:
24058181
30.

PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment.

Tveten K, Strøm TB, Berge KE, Leren TP.

J Lipid Res. 2013 Jun;54(6):1560-6. doi: 10.1194/jlr.M034371. Epub 2013 Mar 18.

31.

[Weight loss pills purchased on the internet as the cause of ventricular fibrillation].

Pareek M, Pedersen RL, Leren TP, Jensen HK.

Ugeskr Laeger. 2013 Mar 11;175(11):739-40. Danish.

PMID:
23480888
32.

Increased amount of interstitial fibrosis predicts ventricular arrhythmias, and is associated with reduced myocardial septal function in patients with obstructive hypertrophic cardiomyopathy.

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

Europace. 2013 Sep;15(9):1319-27. doi: 10.1093/europace/eut028. Epub 2013 Feb 20.

PMID:
23426552
33.

Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia.

Tveten K, Strøm TB, Cameron J, Berge KE, Leren TP.

Atherosclerosis. 2012 Dec;225(2):370-5. doi: 10.1016/j.atherosclerosis.2012.10.026. Epub 2012 Oct 11.

PMID:
23102784
34.

Description of a large family with autosomal dominant hypercholesterolemia associated with the APOE p.Leu167del mutation.

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.

Hum Mutat. 2013 Jan;34(1):83-7. doi: 10.1002/humu.22215. Epub 2012 Oct 11.

35.

The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases.

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.

J Cardiovasc Electrophysiol. 2012 Oct;23(10):1092-8. doi: 10.1111/j.1540-8167.2012.02371.x. Epub 2012 Aug 6.

PMID:
22882672
36.
37.

Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases.

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

Int J Legal Med. 2013 Jan;127(1):139-44. doi: 10.1007/s00414-011-0658-2. Epub 2012 Jan 6.

PMID:
22222782
38.

Molecular autopsy in young sudden cardiac death victims with suspected cardiomyopathy.

Larsen MK, Nissen PH, Berge KE, Leren TP, Kristensen IB, Jensen HK, Banner J.

Forensic Sci Int. 2012 Jun 10;219(1-3):33-8. doi: 10.1016/j.forsciint.2011.11.020. Epub 2011 Dec 15.

PMID:
22177269
39.

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.

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

Hum Mol Genet. 2012 Mar 15;21(6):1402-9. doi: 10.1093/hmg/ddr578. Epub 2011 Dec 8.

PMID:
22156580
40.

Characterization of residues in the cytoplasmic domain of the LDL receptor required for exit from the endoplasmic reticulum.

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP.

Biochem Biophys Res Commun. 2011 Dec 2;415(4):642-5. doi: 10.1016/j.bbrc.2011.10.127. Epub 2011 Nov 2.

PMID:
22079632
41.

Characterization of a naturally occurring degradation product of the LDL receptor.

Tveten K, Strøm TB, Cameron J, Holla ØL, Berge KE, Leren TP.

Mol Genet Metab. 2012 Jan;105(1):149-54. doi: 10.1016/j.ymgme.2011.10.008. Epub 2011 Oct 24.

PMID:
22078455
42.

Pregnancy outcomes in familial hypercholesterolemia: a registry-based study.

Toleikyte I, Retterstøl K, Leren TP, Iversen PO.

Circulation. 2011 Oct 11;124(15):1606-14. doi: 10.1161/CIRCULATIONAHA.110.990929. Epub 2011 Sep 12.

PMID:
21911783
43.

Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors.

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

J Lipid Res. 2011 Oct;52(10):1787-94. doi: 10.1194/jlr.M018093. Epub 2011 Jul 19.

44.

Affinity and kinetics of proprotein convertase subtilisin/kexin type 9 binding to low-density lipoprotein receptors on HepG2 cells.

Mousavi SA, Berge KE, Berg T, Leren TP.

FEBS J. 2011 Aug;278(16):2938-50. doi: 10.1111/j.1742-4658.2011.08219.x. Epub 2011 Jul 18.

45.

The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.

Strøm TB, Tveten K, Holla ØL, Cameron J, Berge KE, Leren TP.

Biochem Biophys Res Commun. 2011 May 20;408(4):642-6. doi: 10.1016/j.bbrc.2011.04.077. Epub 2011 Apr 21.

PMID:
21531209
46.

Right ventricular mechanical dispersion is related to malignant arrhythmias: a study of patients with arrhythmogenic right ventricular cardiomyopathy and subclinical right ventricular dysfunction.

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

Eur Heart J. 2011 May;32(9):1089-96. doi: 10.1093/eurheartj/ehr069. Epub 2011 Mar 15.

PMID:
21406439
47.
48.

Removal of acidic residues of the prodomain of PCSK9 increases its activity towards the LDL receptor.

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

Biochem Biophys Res Commun. 2011 Mar 11;406(2):234-8. doi: 10.1016/j.bbrc.2011.02.023. Epub 2011 Feb 13.

PMID:
21324305
49.

Lecithin: Cholesterol Acyltransferase (LCAT) Deficiency: renal lesions with early graft recurrence.

Strøm EH, Sund S, Reier-Nilsen M, Dørje C, Leren TP.

Ultrastruct Pathol. 2011 May;35(3):139-45. doi: 10.3109/01913123.2010.551578. Epub 2011 Feb 16.

PMID:
21323422
50.

Prospective, population-based long QT molecular autopsy study of postmortem negative sudden death in 1 to 40 year olds.

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.

Heart Rhythm. 2011 Mar;8(3):412-9. doi: 10.1016/j.hrthm.2010.11.016. Epub 2010 Nov 9.

PMID:
21070882

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