Effect of mutations in the PCSK9 gene on the cell surface LDL receptors von Cameron, Jamie, Holla, Øystein L., Ranheim, Trine, Kulseth, Mari Ann, Berge, Knut Erik, Leren, Trond P.

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Lamin A/C cardiomyopathy: young onset, high penetrance, and frequent need for heart transplantation von Hasselberg, Nina Eide, Haland, Trine Fink, Saberniak, Jørg, Brekke, Pål Haugar, Berge, Knut Erik, Leren, Trond Paul, Edvardsen, Thor, Haugaa, Kristina Hermann

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Mutations in the SORT1 gene are unlikely to cause autosomal dominant hypercholesterolemia von Tveten, Kristian, Strøm, Thea Bismo, Cameron, Jamie, Berge, Knut Erik, Leren, Trond P

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Description of a Large Family with Autosomal Dominant Hypercholesterolemia Associated with the APOE p.Leu167del Mutation von 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

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Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing von 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

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Subjects with molecularly defined familial hypercholesterolemia or familial defective apoB-100 are not being adequately treated von Leren, Trond P, Berge, Knut Erik

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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 acid... von TVETEN, Kristian, HOLLA, Øystein L, CAMERON, Jamie, BISMO STRØM, Thea, ERIK BERGE, Knut, LAERDAHL, Jon K, LEREN, Trond P

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PCSK9-mediated degradation of the LDL receptor generates a 17 kDa C-terminal LDL receptor fragment von Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Leren, Trond P.

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Role of the C-terminal domain of PCSK9 in degradation of the LDL receptors von Holla, Øystein L., Cameron, Jamie, Tveten, Kristian, Str⊘m, Thea Bismo, Berge, Knut Erik, Laerdahl, Jon K., Leren, Trond P.

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Novel mutation in the SLC12A3 gene in a Sri Lankan family with Gitelman syndrome & coexistent diabetes: a case report von Subasinghe, Chandrika Jayakanthi, Sirisena, Nirmala Dushyanthi, Herath, Chula, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana

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The systolic paradox in hypertrophic cardiomyopathy von 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

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Hypokalaemic Paralysis - A double trouble from concurrent Thyrotoxicosis and Gitelman syndrome: A report of two cases von Subasinghe, Chandrika Jayakanthi, Gunatilake, Sonali Sihindi Chapa, Sirisena, Nirmala Dushyanthi, Berge, Knut Erik, Leren, Trond Paul, Bulugahapitiya, Uditha, Dissanayake, Vajira Harshadeva Weerabaddana

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Sitosterolemia: a gateway to new knowledge about cholesterol metabolism von Berge, Knut Erik

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Loss-of-function mutation R46L in the PCSK9 gene has little impact on the levels of total serum cholesterol in familial hypercholesterolemia heterozygotes von Strøm, Thea Bismo, Holla, Øystein L., Cameron, Jamie, Berge, Knut Erik, Leren, Trond P.

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The effect of red wine on plasma leptin levels and vasoactive factors from adipose tissue: A randomized crossover trial von Djurovic, Srdjan, Berge, Knut Erik, Birkenes, Bård, Braaten, Øivind, Retterstøl, Lars

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Genome-wide expression analysis of cells expressing gain of function mutant D374Y-PCSK9 von Ranheim, Trine, Mattingsdal, Morten, Lindvall, Jessica M., Holla, Øystein L., Berge, Knut Erik, Kulseth, Mari Ann, Leren, Trond P.

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Characterization of a naturally occurring degradation product of the LDL receptor von Tveten, Kristian, Strøm, Thea Bismo, Cameron, Jamie, Holla, Øystein L., Berge, Knut Erik, Leren, Trond P.

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Tangier disease caused by compound heterozygosity for ABCA1 mutations R282X and Y1532C von Cameron, Jamie, Ranheim, Trine, Halvorsen, Bente, Kulseth, Mari Ann, Leren, Trond P, Berge, Knut Erik

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Analysis of LDLR mRNA in patients with familial hypercholesterolemia revealed a novel mutation in intron 14, which activates a cryptic splice site von Kulseth, Mari Ann, Berge, Knut Erik, Bogsrud, Martin Prøven, Leren, Trond P

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Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy von Dejgaard, Lars A., Haland, Trine F., Lie, Oyvind H., Ribe, Margareth, Bjune, Thea, Leren, Ida Skrinde, Berge, Knut Erik, Edvardsen, Thor, Haugaa, Kristina H.

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