Effect of mutations in the PCSK9 gene on the cell surface LDL receptors
Cameron, Jamie, Holla, Øystein L., Ranheim, Trine, Kulseth, Mari Ann, Berge, Knut Erik, Leren, Trond P.
Published in Human molecular genetics (01.05.2006)
Published in Human molecular genetics (01.05.2006)
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Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia
Tveten, Kristian, Strøm, Thea Bismo, Cameron, Jamie, Berge, Knut Erik, Leren, Trond P
Published in Atherosclerosis (01.12.2012)
Published in Atherosclerosis (01.12.2012)
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Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation
Hasselberg, Nina Eide, Haland, Trine Fink, Saberniak, Jørg, Brekke, Pål Haugar, Berge, Knut Erik, Leren, Trond Paul, Edvardsen, Thor, Haugaa, Kristina Hermann
Published in European heart journal (07.03.2018)
Published in European heart journal (07.03.2018)
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Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation
Marduel, Marie, Ouguerram, Khadija, Serre, Valérie, Bonnefont-Rousselot, Dominique, Marques-Pinheiro, Alice, Erik Berge, Knut, Devillers, Martine, Luc, Gérald, Lecerf, Jean-Michel, Tosolini, Laurent, Erlich, Danièle, Peloso, Gina M., Stitziel, Nathan, Nitchké, Patrick, Jaïs, Jean-Philippe, Abifadel, Marianne, Kathiresan, Sekar, Leren, Trond Paul, Rabès, Jean-Pierre, Boileau, Catherine, Varret, Mathilde
Published in Human mutation (01.01.2013)
Published in Human mutation (01.01.2013)
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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing
Yu, Hui, PhD, Zhang, Victor Wei, MD, PhD, Stray-Pedersen, Asbjørg, MD, PhD, Hanson, Imelda Celine, MD, Forbes, Lisa R., MD, de la Morena, M. Teresa, MD, Chinn, Ivan K., MD, Gorman, Elizabeth, PhD, Mendelsohn, Nancy J., MD, Pozos, Tamara, MD, PhD, Wiszniewski, Wojciech, MD, PhD, Nicholas, Sarah K., MD, Yates, Anne B., MD, Moore, Lindsey E., DO, Berge, Knut Erik, MD, PhD, Sorte, Hanne, MS, Bayer, Diana K., DO, ALZahrani, Daifulah, MD, Geha, Raif S., MD, Feng, Yanming, PhD, Wang, Guoli, PhD, Orange, Jordan S., MD, PhD, Lupski, James R., MD, PhD, DSc (hon), Wang, Jing, MD, Wong, Lee-Jun, PhD
Published in Journal of allergy and clinical immunology (01.10.2016)
Published in Journal of allergy and clinical immunology (01.10.2016)
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PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment
Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Leren, Trond P.
Published in Journal of lipid research (01.06.2013)
Published in Journal of lipid research (01.06.2013)
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Journal Article
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, Kristian, HOLLA, Øystein L, CAMERON, Jamie, BISMO STRØM, Thea, ERIK BERGE, Knut, LAERDAHL, Jon K, LEREN, Trond P
Published in Human molecular genetics (15.03.2012)
Published in Human molecular genetics (15.03.2012)
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Journal Article
Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors
Holla, Øystein L., Cameron, Jamie, Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Laerdahl, Jon K., Leren, Trond P.
Published in Journal of lipid research (01.10.2011)
Published in Journal of lipid research (01.10.2011)
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Journal Article
Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report
Subasinghe, Chandrika Jayakanthi, Sirisena, Nirmala Dushyanthi, Herath, Chula, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana
Published in BMC nephrology (26.04.2017)
Published in BMC nephrology (26.04.2017)
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Identification and characterization of two novel mutations in the LPL gene causing type I hyperlipoproteinemia
Pingitore, Piero, PhD, Lepore, Saverio Massimo, PhD, Pirazzi, Carlo, MD, PhD, Mancina, Rosellina Margherita, PhD, Motta, Benedetta Maria, PhD, Valenti, Luca, MD, Berge, Knut Erik, MD, PhD, Retterstøl, Kjetil, MD, PhD, Leren, Trond P., MD, PhD, Wiklund, Olov, MD, PhD, Romeo, Stefano, MD, PhD
Published in Journal of clinical lipidology (01.07.2016)
Published in Journal of clinical lipidology (01.07.2016)
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The systolic paradox in hypertrophic cardiomyopathy
Haland, Trine F, Hasselberg, Nina E, Almaas, Vibeke Marie, Dejgaard, Lars A, Saberniak, Jørg, Leren, Ida S, Berge, Knut Erik, Haugaa, Kristina H, Edvardsen, Thor
Published in Open heart (01.05.2017)
Published in Open heart (01.05.2017)
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Journal Article
Hypokalaemic Paralysis - A double trouble from concurrent Thyrotoxicosis and Gitelman syndrome: A report of two cases
Subasinghe, Chandrika Jayakanthi, Gunatilake, Sonali Sihindi Chapa, Sirisena, Nirmala Dushyanthi, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana
Published in Sri Lanka journal of diabetes endocrinology and metabolism (01.06.2020)
Published in Sri Lanka journal of diabetes endocrinology and metabolism (01.06.2020)
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Journal Article
Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes
Strøm, Thea Bismo, Holla, Øystein L., Cameron, Jamie, Berge, Knut Erik, Leren, Trond P.
Published in Clinica chimica acta (01.02.2010)
Published in Clinica chimica acta (01.02.2010)
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Journal Article
Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9
Ranheim, Trine, Mattingsdal, Morten, Lindvall, Jessica M., Holla, Øystein L., Berge, Knut Erik, Kulseth, Mari Ann, Leren, Trond P.
Published in Journal of cellular physiology (01.11.2008)
Published in Journal of cellular physiology (01.11.2008)
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Journal Article
Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C
Cameron, Jamie, Ranheim, Trine, Halvorsen, Bente, Kulseth, Mari Ann, Leren, Trond P, Berge, Knut Erik
Published in Atherosclerosis (01.03.2010)
Published in Atherosclerosis (01.03.2010)
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Journal Article
Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site
Kulseth, Mari Ann, Berge, Knut Erik, Bogsrud, Martin Prøven, Leren, Trond P
Published in Journal of human genetics (01.10.2010)
Published in Journal of human genetics (01.10.2010)
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