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Daniel J. Rader, … , Jonathan Cohen, Helen H. Hobbs
Published June 15, 2003
Citation Information: J Clin Invest. 2003;111(12):1795-1803. https://doi.org/10.1172/JCI18925.
Citation Information: J Clin Invest. 2003;111(12):1795-1803. https://doi.org/10.1172/JCI18925.
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Daniel J. Rader, Jonathan Cohen, Helen H. Hobbs
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Citations to this article (176)
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De Castro-Orós I, Pérez-López J, Mateo-Gallego R, Rebollar S, Ledesma M, León M, Cofán M, Casasnovas JA, Ros E, Rodríguez-Rey JC, Civeira F, Pocoví M |
BMC Medical Genomics | 2014 |
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Small Dense LDL Cholesterol Concentrations Predict Risk for Coronary Heart Disease: the Atherosclerosis Risk in Communities (ARIC) Study
Hoogeveen RC, Gaubatz JW, Sun W, Dodge RC, Crosby JR, Jiang J, Couper D, Virani SS, Kathiresan S, Boerwinkle E, Ballantyne CM |
Arteriosclerosis, thrombosis, and vascular biology | 2014 |
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Criteria for Diagnosis of Familial Hypercholesterolemia: A Comprehensive Analysis of the Different Guidelines, Appraising their Suitability in the Omani Arab Population
Al-Rasadi K, Al-Waili K, Al-Sabti HA, Al-Hinai A, Al-Hashmi K, Al-Zakwani I, Banerjee Y |
Oman Medical Journal | 2014 |
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Functional Characterization of Two Low-Density Lipoprotein Receptor Gene Mutations in Two Chinese Patients with Familial Hypercholesterolemia
Wang H, Xu S, Sun L, Pan X, Yang S, Wang L |
PloS one | 2014 |
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Effect of a low-fat diet enriched either with rapeseed oil or sunflower oil on plasma lipoproteins in children and adolescents with familial hypercholesterolaemia. Results of a pilot study.
Negele L, Schneider B, Ristl R, Stulnig TM, Willfort-Ehringer A, Helk O, Widhalm K |
European Journal of Clinical Nutrition | 2014 |
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Novel therapies for treating familial hypercholesterolemia.
Bandeali SJ, Daye J, Virani SS |
Current Atherosclerosis Reports | 2014 |
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Diagnosis and Management of Familial Dyslipoproteinemias
PO Kwiterovich |
Current Cardiology Reports | 2013 |
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The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol
S Poirier, G Mayer |
Drug design, development and therapy | 2013 |
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Elevated PCSK9 Levels in Untreated Patients With Heterozygous or Homozygous Familial Hypercholesterolemia and the Response to High‐Dose Statin Therapy
F Raal, V Panz, A Immelman, G Pilcher |
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease | 2013 |
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Validating therapeutic targets through human genetics
RM Plenge, EM Scolnick, D Altshuler |
Nature Reviews Drug Discovery | 2013 |
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Genetics of Lipid Traits and Relationship to Coronary Artery Disease
TE Keenan, DJ Rader |
Current Cardiology Reports | 2013 |
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Genetic Polymorphisms in LDLR, APOB, PCSK9 and Other Lipid Related Genes Associated with Familial Hypercholesterolemia in Malaysia
SH Lye, JK Chahil, P Bagali, L Alex, J Vadivelu, WA Ahmad, SP Chan, MK Thong, SM Zain, R Mohamed, O El-Maarri |
PloS one | 2013 |
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Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: First report from China
Meng X, Lin J, Gao X, Guo J, Xin C, Wang J |
Indian journal of ophthalmology | 2013 |
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Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease : Consensus Statement of the European Atherosclerosis Society
Nordestgaard BG, Chapman MJ, Humphries SE, Ginsberg HN, Masana L, Descamps OS, Wiklund O, Hegele RA, Raal FJ, Defesche JC, Wiegman A, Santos RD, Watts GF, Parhofer KG, Hovingh GK, Kovanen PT, Boileau C, Averna M, Borén J, Bruckert E, Catapano AL, Kuivenhoven JA, Pajukanta P, Ray K, Stalenhoef AF, Stroes E, Taskinen MR, Tybjærg-Hansen A |
European Heart Journal | 2013 |
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Personalized genomic disease risk of volunteers
Gonzalez-Garay ML, McGuire AL, Pereira S, Caskey CT |
Proceedings of the National Academy of Sciences | 2013 |
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Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, Bennett RL, Jones KL, Tokita MJ, Bennett JT, Kim JH, Rosenthal EA, Kim DS, Tabor HK, Bamshad MJ, Motulsky AG, Scott CR, Pritchard CC, Walsh T, Burke W, Raskind WH, Byers P, Hisama FM, Nickerson DA, Jarvik GP |
The American Journal of Human Genetics | 2013 |
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Homozygous familial hypercholesterolemia (HoFH) in Germany: an epidemiological survey
Walzer S, Travers K, Rieder S, Erazo-Fischer E, Matusiewicz D |
ClinicoEconomics and Outcomes Research: CEOR | 2013 |
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Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study
BF Voight, GM Peloso, M Orho-Melander, R Frikke-Schmidt, M Barbalic, MK Jensen, G Hindy, H Hólm, EL Ding, T Johnson, H Schunkert, NJ Samani, R Clarke, JC Hopewell, JF Thompson, M Li, G Thorleifsson, C Newton-Cheh, K Musunuru, JP Pirruccello, D Saleheen, L Chen, AF Stewart, A Schillert, U Thorsteinsdottir, G Thorgeirsson, S Anand, JC Engert, T Morgan, J Spertus, M Stoll, K Berger, N Martinelli, D Girelli, PP McKeown, CC Patterson, SE Epstein, J Devaney, MS Burnett, V Mooser, S Ripatti, I Surakka, MS Nieminen, J Sinisalo, ML Lokki, M Perola, A Havulinna, U Faire, B Gigante, E Ingelsson, T Zeller, P Wild, PI de Bakker, OH Klungel, AH der Zee, BJ Peters, A Boer, DE Grobbee, PW Kamphuisen, VH Deneer, CC Elbers, NC Onland-Moret, MH Hofker, C Wijmenga, WM Verschuren, JM Boer, YT van der Schouw, A Rasheed, P Frossard, S Demissie, C Willer, R Do, JM Ordovas, GR Abecasis, M Boehnke, KL Mohlke, MJ Daly, C Guiducci, NP Burtt, A Surti, E Gonzalez, S Purcell, S Gabriel, J Marrugat, J Peden, J Erdmann, P Diemert, C Willenborg, IR König, M Fischer, C Hengstenberg, A Ziegler, I Buysschaert, D Lambrechts, FV de Werf, KA Fox, NE el Mokhtari, D Rubin, J Schrezenmeir, S Schreiber, A Schäfer, J Danesh, S Blankenberg, R Roberts, R McPherson, H Watkins, AS Hall, K Overvad, E Rimm, E Boerwinkle, A Tybjaerg-Hansen, LA Cupples, MP Reilly, O Melander, PM Mannucci, D Ardissino, D Siscovick, R Elosua, K Stefansson, CJ O'Donnell, V Salomaa, DJ Rader, L Peltonen, SM Schwartz, D Altshuler, S Kathiresan |
Lancet | 2012 |
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Low Prevalence of Mutations in Known Loci for Autosomal Dominant Hypercholesterolemia in a Multiethnic Patient Cohort
Z Ahmad, B Adams-Huet, C Chen, A Garg |
Circulation. Cardiovascular genetics | 2012 |
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Differential microRNA response to a high-cholesterol, high-fat diet in livers of low and high LDL-C baboons
GM Karere, JP Glenn, JL VandeBerg, LA Cox |
BMC Genomics | 2012 |
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Autosomal recessive hypercholesterolaemia in a Morrocan family due to a mutation of the G266C LDL receptor
SE Aziz, A Chadli, HE Ghomari, A Farouqi |
BMJ case reports | 2012 |
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Efficacy and Safety of a Microsomal Triglyceride Transfer Protein Inhibitor in Homozygous Familial Hypercholesterolemia
Cuchel M, Meagher E, du Toit TH, Blom D, Marais A, Hegele R, Averna M, Sirtori C, Shah P, Gaudet D, Stefanutti C, Vigna G, Du Plessis A, Propert KJ, Sasiela W, Bloedon L, Rader D |
2012 | |
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Lactase Persistence and Lipid Pathway Selection in the Maasai
Wagh K, Bhatia A, Alexe G, Reddy A, Ravikumar V, Seiler M, Boemo M, Yao M, Cronk L, Naqvi A, Ganesan S, Levine AJ, Bhanot G |
PloS one | 2012 |
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Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R)
Schaefer JR, Kurt B, Sattler A, Klaus G, Soufi M |
Clinical Research in Cardiology Supplements | 2012 |
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A novel pathogenic variant of the LDLR gene in the Asian population and its clinical correlation with familial hypercholesterolemia.
Chahil JK, Lye SH, Bagali PG, Alex L |
Molecular Biology Reports | 2012 |
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Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.
Ahmed W, Ajmal M, Sadeque A, Whittall RA, Rafiq S, Putt W, Khawaja A, Imtiaz F, Ahmed N, Azam M, Humphries SE, Qamar R |
Molecular Biology Reports | 2012 |
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Treatment of familial hypercholesterolemia: is there a need beyond statin therapy?
Raper A, Kolansky DM, Cuchel M |
Current Atherosclerosis Reports | 2012 |
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The Human Plasma Lipidome
O Quehenberger, EA Dennis |
New England Journal of Medicine | 2011 |
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MicroRNAs are transported in plasma and delivered to recipient cells by high-density lipoproteins
KC Vickers, BT Palmisano, BM Shoucri, RD Shamburek, AT Remaley |
Nature Cell Biology | 2011 |
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Induced pluripotent stem cells for modelling human diseases
JJ Unternaehrer, GQ Daley |
Philosophical Transactions of the Royal Society B: Biological Sciences | 2011 |
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Identification and functional characterization in vivo of a novel splice variant of LDLR in rhesus macaques
Kassim SH, Vandenberghe LH, Hovhannisyan R, Wilson JM, Rader DJ |
Physiological genomics | 2011 |
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Genetic architecture of circulating lipid levels
Demirkan A, Amin N, Isaacs A, Jarvelin MR, Whitfield JB, Wichmann HE, Kyvik KO, Rudan I, Gieger C, Hicks AA, Johansson Å, Hottenga JJ, Smith JJ, Wild SH, Pedersen NL, Willemsen G, Mangino M, Hayward C, Uitterlinden AG, Hofman A, Witteman J, Montgomery GW, Pietiläinen KH, Rantanen T, Kaprio J, Döring A, Pramstaller PP, Gyllensten U, de Geus EJ, Penninx BW, Wilson JF, Rivadeneria F, Magnusson PK, Boomsma DI, Spector T, Campbell H, Hoehne B, Martin NG, Oostra BA, McCarthy M, Peltonen-Palotie L, Aulchenko Y, Visscher PM, Ripatti S, Janssens AC, van Duijn CM |
European Journal of Human Genetics | 2011 |
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Imaging LDL receptor oligomerization during endocytosis using a co-internalization assay
Zou P, Ting AY |
ACS chemical biology | 2011 |
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Apolipoprotein B Knockdown by AAV-delivered shRNA Lowers Plasma Cholesterol in Mice
Koornneef A, Maczuga P, van Logtenstein R, Borel F, Blits B, Ritsema T, van Deventer S, Petry H, Konstantinova P |
Molecular Therapy | 2011 |
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Pharmacological strategies for lowering LDL cholesterol: statins and beyond.
Brautbar A, Ballantyne CM |
Nature reviews. Cardiology | 2011 |
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Modelling inherited metabolic disorders of the liver with human induced pluripotent stem cells
Sheikh Tamir Rashid, Sebastien Corbineau, Nicholas Hannan, Stefan Marciniak, Elena Miranda, Graeme Alexander, Isabel Huang – Doran, Julian Griffin, Lars Ahrlund- Richter, Jeremy Skepper, Robert Semple, Ann Weber, David A. Lomas, Ludovic Vallier |
Journal of Clinical Investigation | 2010 |
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Stem cell models of cardiac development and disease
K Musunuru, IJ Domian, KR Chien |
Annual Review of Cell and Developmental Biology | 2010 |
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ABC transporters, atherosclerosis and inflammation
ML Fitzgerald, Z Mujawar, N Tamehiro |
Atherosclerosis | 2010 |
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Gene therapy for dyslipidemia: a review of gene replacement and gene inhibition strategies
SH Kassim, JM Wilson, DJ Rader |
Clinical Lipidology | 2010 |
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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia
J Rios, E Stein, J Shendure, HH Hobbs, JC Cohen |
Human Molecular Genetics | 2010 |
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The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia
TH Chase, BL Lyons, RT Bronson, O Foreman, LR Donahue, LM Burzenski, B Gott, P Lane, B Harris, U Ceglarek, J Thiery, H Wittenburg, JN Thon, JE Italiano, KR Johnson, LD Shultz |
Blood | 2010 |
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The vascular contribution to Alzheimer's disease
R Altman, JC Rutledge |
Clinical Science | 2010 |
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Genetics of Atherothrombosis and Thrombophilia
A Mälarstig, A Hamsten |
Current Atherosclerosis Reports | 2010 |
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
De Castro-Orós I, Pocoví M, Civeira F |
The Application of Clinical Genetics | 2010 |
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From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
Musunuru K, Strong A, Frank-Kamenetsky M, Lee NE, Ahfeldt T, Sachs KV, Li X, Li H, Kuperwasser N, Ruda VM, Pirruccello JJ, Muchmore B, Prokunina-Olsson L, Hall JL, Schadt EE, Morales CR, Lund-Katz S, Phillips MC, Wong J, Cantley W, Racie T, Ejebe KG, Orho-Melander M, Melander O, Koteliansky V, Fitzgerald K, Krauss RM, Cowan CA, Kathiresan S, Rader DJ |
Nature | 2010 |
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Gene Therapy in a Humanized Mouse Model of Familial Hypercholesterolemia Leads to Marked Regression of Atherosclerosis
Kassim SH, Li H, Vandenberghe LH, Hinderer C, Bell P, Marchadier D, Wilson A, Cromley D, Redon V, Yu H, Wilson JM, Rader DJ |
PloS one | 2010 |
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Identification of Heterogeneous Nuclear Ribonucleoprotein K as a Transactivator for Human Low Density Lipoprotein Receptor Gene Transcription
Li H, Liu J |
The Journal of biological chemistry | 2010 |
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Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd |
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology | 2009 |
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Plasma lipoproteins: genetic influences and clinical implications
RA Hegele |
Nature Reviews Genetics | 2009 |
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Antibody-mediated disruption of the interaction between PCSK9 and the low-density lipoprotein receptor
CJ Duff, MJ Scott, IT Kirby, SE Hutchinson, SL Martin, NM Hooper |
Biochemical Journal | 2009 |
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Indices of Cholesterol Metabolism and Relative Responsiveness to Ezetimibe and Simvastatin
Lakoski SG, Xu F, Vega GL, Grundy SM, Chandalia M, Lam C, Lowe RS, Stepanavage ME, Musliner TA, Cohen JC, Hobbs HH |
The Journal of clinical endocrinology and metabolism | 2009 |
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Longitudinal Association of PCSK9 Sequence Variations with LDL-Cholesterol Levels: The Coronary Artery Risk Development in Young Adults (CARDIA) Study
Huang CC, Fornage M, Lloyd-Jones DM, Wei GS, Boerwinkle E, Liu K |
Circulation. Cardiovascular genetics | 2009 |
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A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia
Hegele RA, Ban MR, Hsueh N, Kennedy BA, Cao H, Zou GY, Anand S, Yusuf S, Huff MW, Wang J |
Human Molecular Genetics | 2009 |
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LDL Receptor Polymorphisms and the Risk of Coronary Heart Disease: the Atherosclerosis Risk in Communities Study
Franceschini N, Muallem H, Rose KM, Boerwinkle E, Maeda N |
Journal of Thrombosis and Haemostasis | 2009 |
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Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13
R Burkhardt, EE Kenny, JK Lowe, A Birkeland, R Josowitz, M Noel, J Salit, JB Maller, I Pe'er, MJ Daly, D Altshuler, M Stoffel, JM Friedman, JL Breslow |
Arteriosclerosis, thrombosis, and vascular biology | 2008 |
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LDL-cholesterol concentrations: a genome-wide association study
Sandhu MS, Waterworth DM, Debenham SL, Wheeler E, Papadakis K, Zhao JH, Song K, Yuan X, Johnson T, Ashford S, Inouye M, Luben R, Sims M, Hadley D, McArdle W, Barter P, Kesäniemi YA, Mahley RW, McPherson R, Grundy SM, Bingham SA, Khaw KT, Loos RJ, Waeber G, Barroso I, Strachan DP, Deloukas P, Vollenweider P, Wareham NJ, Mooser V |
Lancet | 2008 |
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Molecular biology of PCSK9: its role in LDL metabolism
JD Horton, JC Cohen, HH Hobbs |
Trends in Biochemical Sciences | 2007 |
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Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia
E Meriño-Ibarra, J Puzo, E Jarauta, A Cenarro, D Recalde, ÁL García-Otín, E Ros, E Martorell, X Pintó, M Franco, D Zambón, Á Brea, M Pocoví, F Civeira |
Journal of Inherited Metabolic Disease | 2007 |
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Generation of ENU-induced mouse mutants with hypocholesterolemia: novel tools for dissecting plasma lipoprotein homeostasis.
Aigner B, Rathkolb B, Mohr M, Klempt M, Hrabé de Angelis M, Wolf E |
Lipids | 2007 |
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Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease
G Yuan, J Wang, RA Hegele |
CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne | 2006 |
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The Importance of Written Information Packages in Support of Case-Finding Within Families at Risk for Inherited High Cholesterol
HW van den Nieuwenhoff, I Mesters, JJ Nellissen, AF Stalenhoef, NK de Vries |
Journal of Genetic Counseling | 2006 |
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The E670G SNP in the PCSK9 gene is associated with polygenic hypercholesterolemia in men but not in women
Evans D, Beil FU |
BMC Medical Genetics | 2006 |
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Treatment of dyslipidemia in children and adolescents
KW Holmes, PO Kwiterovich |
Current Cardiology Reports | 2005 |
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Decreased plasma cholesterol and hypersensitivity to statins in mice lacking Pcsk9
S Rashid, DE Curtis, R Garuti, NN Anderson, Y Bashmakov, YK Ho, RE Hammer, YA Moon, JD Horton |
Proceedings of the National Academy of Sciences | 2005 |
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Overexpression of PCSK9 accelerates the degradation of the LDLR in a post-endoplasmic reticulum compartment
KN Maxwell, EA Fisher, JL Breslow |
Proceedings of the National Academy of Sciences | 2005 |
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A Common PCSK9 Haplotype, Encompassing the E670G Coding Single Nucleotide Polymorphism, Is a Novel Genetic Marker for Plasma Low-Density Lipoprotein Cholesterol Levels and Severity of Coronary Atherosclerosis
Chen SN, Ballantyne CM, Gotto AM Jr, Tan Y, Willerson JT, Marian AJ |
Journal of the American College of Cardiology | 2005 |
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Aging syndrome genes and premature coronary artery disease
Low AF, O'Donnell CJ, Kathiresan S, Everett B, Chae CU, Shaw SY, Ellinor PT, MacRae CA |
BMC Medical Genetics | 2005 |
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[The role of lipid metabolism in the prevention of coronary heart disease].
Mathes P, Thiery J |
2005 | |
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Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype
KN Maxwell, JL Breslow |
Proceedings of the National Academy of Sciences | 2004 |
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Management of Hyperlipidemia in the Pediatric Population.
Tonstad S, Thompson GR |
Current Treatment Options in Cardiovascular Medicine | 2004 |
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