Mechanisms of Disease: genetic causes of familial hypercholesterolemia von Soutar, Anne K, Naoumova, Rossi P

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Unexpected roles for PCSK9 in lipid metabolism von Soutar, Anne K

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Improved cardiovascular outcomes following temporal advances in lipid-lowering therapy in a genetically-characterised cohort of familial hypercholesterolaemia homozygotes von Thompson, Gilbert R, Seed, Mary, Naoumova, Rossi P, Neuwirth, Clare, Walji, Shahenaz, Aitman, Timothy J, Scott, James, Myant, Nicolas B, Soutar, Anne K

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Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia von Alves, Ana Catarina, Etxebarria, Aitor, Soutar, Anne Katherine, Martin, Cesar, Bourbon, Mafalda

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Rare genetic causes of autosomal dominant or recessive hypercholesterolaemia von Soutar, Anne K.

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Severe Hypercholesterolemia in Four British Families With the D374Y Mutation in the PCSK9 Gene: Long-Term Follow-Up and Treatment Response von Naoumova, Rossi P, Tosi, Isabella, Patel, Dilip, Neuwirth, Clare, Horswell, Stuart D, Marais, A David, van Heyningen, Charles, Soutar, Anne K

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The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia von Vandrovcova, Jana, Thomas, Ellen R.A., Atanur, Santosh S., Norsworthy, Penny J., Neuwirth, Clare, Tan, Yvonne, Kasperaviciute, Dalia, Biggs, Jennifer, Game, Laurence, Mueller, Michael, Soutar, Anne K., Aitman, Timothy J.

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Degradation of LDLR protein mediated by ‘gain of function’ PCSK9 mutants in normal and ARH cells von Fasano, Tommaso, Sun, Xi-Ming, Patel, Dilipkumar D, Soutar, Anne K

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In Memoriam: Nick Myant (1917–2015) von Gibbons, Geoffrey, Soutar, Anne, Thompson, Gilbert

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Increased Secretion of Lipoproteins in Transgenic Mice Expressing Human D374Y PCSK9 Under Physiological Genetic Control von Herbert, Bronwen, Patel, Dilipkumar, Waddington, Simon N, Eden, Emily R, McAleenan, Alexandra, Sun, Xi-Ming, Soutar, Anne K

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Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia von Sun, Xi-Ming, Eden, Emily R., Tosi, Isabella, Neuwirth, Clare K., Wile, David, Naoumova, Rossi P., Soutar, Anne K.

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Genetic defects causing familial hypercholesterolaemia: Identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attendi... von Tosi, Isabella, Toledo-Leiva, Paola, Neuwirth, Clare, Naoumova, Rossi P, Soutar, Anne K

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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study von Norsworthy, Penny J, Vandrovcova, Jana, Thomas, Ellen R A, Campbell, Archie, Kerr, Shona M, Biggs, Jennifer, Game, Laurence, Soutar, Anne K, Smith, Blair H, Dominiczak, Anna F, Porteous, David J, Morris, Andrew D, Scotland, Generation, Aitman, Timothy J

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Genetics, Clinical Phenotype, and Molecular Cell Biology of Autosomal Recessive Hypercholesterolemia von Soutar, Anne K, Naoumova, Rossitza P, Traub, Linton M

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Effects of ezetimibe and/or simvastatin on LDL receptor protein expression and on LDL receptor and HMG-CoA reductase gene expression: A randomized trial in healthy men von Gouni-Berthold, Ioanna, Berthold, Heiner K, Gylling, Helena, Hallikainen, Maarit, Giannakidou, Eleni, Stier, Sebastian, Ko, Yon, Patel, Dilip, Soutar, Anne K, Seedorf, Udo, Mantzoros, Christos S, Plat, Jogchum, Krone, Wilhelm

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Sorting Motifs in the Intracellular Domain of the Low Density Lipoprotein Receptor Interact with a Novel Domain of Sorting Nexin-17 von Burden, Jemima J., Sun, Xi-Ming, García, Ana Bárbara García, Soutar, Anne K.

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Mortality among Workers Employed in the Titanium Dioxide Production Industry in Europe von Boffetta, Paolo, Soutar, Anne, Cherrie, John W., Granath, Fredrik, Andersen, Aage, Anttila, Ahti, Blettner, Maria, Gaborieau, Valerie, Klug, Stefanie J., Langard, Sverre, Luce, Daniele, Merletti, Franco, Miller, Brian, Mirabelli, Dario, Pukkala, Eero, Adami, Hans-Olov, Weiderpass, Elisabete

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Premature Senescence in Cells From Patients With Autosomal Recessive Hypercholesterolemia (ARH): Evidence for a Role for ARH in Mitosis von Sun, Xi-Ming, Patel, Dilip D, Acosta, Juan-Carlos, Gil, Jesùs, Soutar, Anne K

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Current management of severe homozygous hypercholesterolaemias von Naoumova, Rossi P, Thompson, Gilbert R, Soutar, Anne K

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Adaptor protein Disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia von Eden, Emily R., Sun, Xi-Ming, Patel, Dilipkumar D., Soutar, Anne K.

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