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Pathology, 12/2018
Apolipoprotein E (apoE), a 34 kDa circulating glycoprotein of 299 amino acids, predominantly synthesised in the liver, associates with triglyceride-rich... 
Journal Article
The Lancet, ISSN 0140-6736, 2013, Volume 381, Issue 9860, pp. 40 - 46
Background Patients with homozygous familial hypercholesterolaemia respond inadequately to existing drugs. We aimed to assess the effi cacy and safety of the... 
Journal Article
Journal Article
by Abbosh, Christopher and Birkbak, Nicolai J and Wilson, Gareth A and Jamal-Hanjani, Mariam and Constantin, Tudor and Salari, Raheleh and Le Quesne, John and Moore, David A and Veeriah, Selvaraju and Rosenthal, Rachel and Marafioti, Teresa and Kirkizlar, Eser and Watkins, Thomas B. K and McGranahan, Nicholas and Ward, Sophia and Martinson, Luke and Riley, Joan and Fraioli, Francesco and Al Bakir, Maise and Grönroos, Eva and Zambrana, Francisco and Endozo, Raymondo and Bi, Wenya Linda and Fennessy, Fiona M and Sponer, Nicole and Johnson, Diana and Laycock, Joanne and Shafi, Seema and Czyzewska-Khan, Justyna and Rowan, Andrew and Chambers, Tim and Matthews, Nik and Turajlic, Samra and Hiley, Crispin and Lee, Siow Ming and Forster, Martin D and Ahmad, Tanya and Falzon, Mary and Borg, Elaine and Lawrence, David and Hayward, Martin and Kolvekar, Shyam and Panagiotopoulos, Nikolaos and Janes, Sam M and Thakrar, Ricky and Ahmed, Asia and Blackhall, Fiona and Summers, Yvonne and Hafez, Dina and Naik, Ashwini and Ganguly, Apratim and Kareht, Stephanie and Shah, Rajesh and Joseph, Leena and Quinn, Anne Marie and Crosbie, Phil A and Naidu, Babu and Middleton, Gary and Langman, Gerald and Trotter, Simon and Nicolson, Marianne and Remmen, Hardy and Kerr, Keith and Chetty, Mahendran and Gomersall, Lesley and Fennell, Dean A and Nakas, Apostolos and Rathinam, Sridhar and Anand, Girija and Khan, Sajid and Russell, Peter and Ezhil, Veni and Ismail, Babikir and Irvin-Sellers, Melanie and Prakash, Vineet and Lester, Jason F and Kornaszewska, Malgorzata and Attanoos, Richard and Adams, Haydn and Davies, Helen and Oukrif, Dahmane and Akarca, Ayse U and Hartley, John A and Lowe, Helen L and Lock, Sara and Iles, Natasha and Bell, Harriet and Ngai, Yenting and Elgar, Greg and Szallasi, Zoltan and Schwarz, Roland F and Herrero, Javier and Stewart, Aengus and Quezada, Sergio A and Peggs, Karl S and Van Loo, Peter and Dive, Caroline and Lin, C. Jimmy and Rabinowitz, Matthew and Aerts, Hugo J. W. L and ... and TRACERx Consortium and The PEACE Consortium and TRACERx consortium and PEACE consortium and The PEACE consortium and The TRACERx consortium
Nature, ISSN 0028-0836, 04/2017, Volume 545, Issue 7655, pp. 446 - 451
Journal Article
Lancet, The, ISSN 0140-6736, 2010, Volume 375, Issue 9719, pp. 998 - 1006
Journal Article
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 04/2008, Volume 358, Issue 14, pp. 1431 - 1443
Journal Article
Diabetes, ISSN 0012-1797, 06/2018, Volume 67, Issue 6, p. 1086
Loss-of-function mutations in cause familial partial lipodystrophy type 3 (FPLD3) and severe metabolic disease in many patients. Missense mutations in are... 
Humans | Molecular Conformation | Mutation, Missense | Thiazolidinediones - chemistry | PPAR gamma - metabolism | Young Adult | Thiazolidinediones - therapeutic use | HEK293 Cells | Adult | Female | Thiazolidinediones - pharmacology | Binding Sites | Lipodystrophy, Familial Partial - drug therapy | PPAR gamma - genetics | Hypoglycemic Agents - therapeutic use | Recombinant Proteins - metabolism | Pharmacogenetics - methods | Pioglitazone | Models, Molecular | Recombinant Proteins - chemistry | Hypoglycemic Agents - chemistry | Lipodystrophy, Familial Partial - genetics | Thiazolidinediones - adverse effects | Hypoglycemic Agents - pharmacology | Gene Expression Regulation - drug effects | Adolescent | PPAR gamma - agonists | Rosiglitazone | Genes, Reporter - drug effects | Ligands | Protein Conformation | Molecular Docking Simulation | Hypoglycemic Agents - adverse effects | Lipodystrophy, Familial Partial - metabolism | Amino Acid Substitution | PPAR gamma - chemistry | Usage | Gene mutations | Cardiomyopathy | Analysis | Peroxisomal disorders | Research | Thiazolidinediones | Heart diseases | Risk factors | Tyrosine | Nutrition | Transcription | Metabolism | Patients | Missense mutation | Energy | Lymphocytes | Classification | Aging | Insulin resistance | Lipodystrophy | Peroxisome proliferator-activated receptors | Mutation | Structure-function relationships | Pharmacogenetics | Lipodystrophy, Familial Partial | Gene Expression Regulation | Recombinant Proteins | PPAR gamma | Hypoglycemic Agents | Genes, Reporter
Journal Article
European Heart Journal, ISSN 0195-668X, 04/2018, Volume 39, Issue 14, pp. 1162 - 1168
Abstract Aims Homozygous familial hypercholesterolaemia (FH) is a rare inherited disorder characterized by extreme hypercholesterolaemia from birth,... 
Apheresis | Evolocumab | Statins | Ezetimibe | PANEL | CARDIAC & CARDIOVASCULAR SYSTEMS | MANAGEMENT | LIPID-LOWERING THERAPY | ATHEROSCLEROSIS SOCIETY | ATORVASTATIN | PLASMA-EXCHANGE | INHIBITION | DOUBLE-BLIND | PLACEBO-CONTROLLED TRIAL | CORONARY-HEART-DISEASE
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2013, Volume 8, Issue 9, pp. e75490 - e75490
Statins are well-known cholesterol lowering drugs targeting HMG-CoA-reductase, reducing the risk of coronary disorders and hypercholesterolemia. Statins are... 
CELLS | IN-VITRO | ACTIVATION | CHOLESTEROL DEPLETION | MACROPHAGES | MULTIDISCIPLINARY SCIENCES | LIPID RAFTS | HMG-COA REDUCTASE | RECEPTOR | PROLIFERATION | STATINS | Tumor Necrosis Factor-alpha - metabolism | Listeriosis - drug therapy |