Jonathan C Cohen

Jonathan C Cohen

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Jonathan C Cohen

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PNPLA3, CGI-58, and Inhibition of Hepatic Triglyceride Hydrolysis in Mice.

Hepatology 2019 Jun 9;69(6):2427-2441. Epub 2019 Apr 9.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1002/hep.30583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563103PMC
June 2019

Accumulation of PNPLA3 on lipid droplets is the basis of associated hepatic steatosis.

Proc Natl Acad Sci U S A 2019 May 24;116(19):9521-9526. Epub 2019 Apr 24.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390;

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http://www.pnas.org/lookup/doi/10.1073/pnas.1901974116
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http://dx.doi.org/10.1073/pnas.1901974116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6511016PMC
May 2019

HSD17B13 and Chronic Liver Disease in Blacks and Hispanics.

N Engl J Med 2018 11;379(19):1876-1877

UT Southwestern Medical Center, Dallas, TX

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http://www.nejm.org/doi/10.1056/NEJMc1804027
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http://dx.doi.org/10.1056/NEJMc1804027DOI Listing
November 2018

A Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

N Engl J Med 2018 03;378(12):1096-1106

From the Regeneron Genetics Center (N.S.A.-H., A.H.L., C.S., S. McCarthy, C.O., J.S.P., S.B., N.G., S. Mukherjee, A.E.L., E.D.F., J.P., I.B.B., A.R.S., J.G.R., J.D.O., O.G., T.M.T., A.B., F.E.D.) and Regeneron Pharmaceuticals (X. Cheng, Y.X., P.S., Y.L., D.E., S.Y.K., B.Z., W.O., A.J.M., G.D.Y., J.G.), Tarrytown, NY; the University of Texas Southwestern Medical Center at Dallas, Dallas (J.K., S.S., H.H.H., J.C.C.); and Geisinger Health System, Danville (G.C.W., A.N.S., M.D.S., X. Chu, J.Z.L., U.L.M., D.J.C., C.D.S., T.M.), and Perelman School of Medicine, University of Pennsylvania, Philadelphia (M.D.F., A.S., S.M.D., D.J.R.) - both in Pennsylvania.

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http://dx.doi.org/10.1056/NEJMoa1712191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668033PMC
March 2018

Increased thermogenesis by a noncanonical pathway in ANGPTL3/8-deficient mice.

Proc Natl Acad Sci U S A 2018 02 22;115(6):E1249-E1258. Epub 2018 Jan 22.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390;

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http://dx.doi.org/10.1073/pnas.1717420115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5819435PMC
February 2018

The PNPLA3 variant associated with fatty liver disease (I148M) accumulates on lipid droplets by evading ubiquitylation.

Hepatology 2017 10 26;66(4):1111-1124. Epub 2017 Aug 26.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1002/hep.29273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605398PMC
October 2017

Adiposity amplifies the genetic risk of fatty liver disease conferred by multiple loci.

Nat Genet 2017 Jun 24;49(6):842-847. Epub 2017 Apr 24.

The Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1038/ng.3855DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5562020PMC
June 2017

Variability of cholesterol accessibility in human red blood cells measured using a bacterial cholesterol-binding toxin.

Elife 2017 02 8;6. Epub 2017 Feb 8.

Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, United States.

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http://dx.doi.org/10.7554/eLife.23355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323040PMC
February 2017

Inactivation of Tm6sf2, a Gene Defective in Fatty Liver Disease, Impairs Lipidation but Not Secretion of Very Low Density Lipoproteins.

J Biol Chem 2016 May 24;291(20):10659-76. Epub 2016 Mar 24.

From the Departments of Molecular Genetics and Internal Medicine and the Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas 75390

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http://dx.doi.org/10.1074/jbc.M116.719955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4865914PMC
May 2016

Crystal structure of the human sterol transporter ABCG5/ABCG8.

Nature 2016 05 4;533(7604):561-4. Epub 2016 May 4.

Department of Biophysics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1038/nature17666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4964963PMC
May 2016

Reply.

Hepatology 2016 Feb 21;63(2):677. Epub 2015 Aug 21.

Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1002/hep.27945DOI Listing
February 2016

Adult-onset liver disease and hepatocellular carcinoma in S-adenosylhomocysteine hydrolase deficiency.

Mol Genet Metab 2015 Dec 26;116(4):269-74. Epub 2015 Oct 26.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX, United States; McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, United States; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2015.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733618PMC
December 2015

Hepatic ANGPTL3 regulates adipose tissue energy homeostasis.

Proc Natl Acad Sci U S A 2015 Sep 24;112(37):11630-5. Epub 2015 Aug 24.

Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390; Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390;

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http://dx.doi.org/10.1073/pnas.1515374112DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4577179PMC
September 2015

Inactivation of ANGPTL3 reduces hepatic VLDL-triglyceride secretion.

J Lipid Res 2015 Jul 7;56(7):1296-307. Epub 2015 May 7.

Departments of Molecular Genetics University of Texas Southwestern Medical Center, Dallas, TX Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1194/jlr.M054882DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479334PMC
July 2015

Flux analysis of cholesterol biosynthesis in vivo reveals multiple tissue and cell-type specific pathways.

Elife 2015 Jun 26;4:e07999. Epub 2015 Jun 26.

Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, United States.

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https://elifesciences.org/articles/07999
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http://dx.doi.org/10.7554/eLife.07999DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501332PMC
June 2015

Relative roles of ABCG5/ABCG8 in liver and intestine.

J Lipid Res 2015 Feb 6;56(2):319-30. Epub 2014 Nov 6.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390 Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390 Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390.

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http://dx.doi.org/10.1194/jlr.M054544DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306686PMC
February 2015

Pnpla3I148M knockin mice accumulate PNPLA3 on lipid droplets and develop hepatic steatosis.

Hepatology 2015 Jan 1;61(1):108-18. Epub 2014 Oct 1.

Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX.

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http://dx.doi.org/10.1002/hep.27242DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262735PMC
January 2015

APOC3, coronary disease, and complexities of Mendelian randomization.

Cell Metab 2014 Sep;20(3):387-9

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2014.08.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4235518PMC
September 2014

Exome-wide association study identifies a TM6SF2 variant that confers susceptibility to nonalcoholic fatty liver disease.

Nat Genet 2014 Apr 16;46(4):352-6. Epub 2014 Feb 16.

McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1038/ng.2901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3969786PMC
April 2014

Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.

Authors:
Jonathan C Cohen

J Clin Lipidol 2013 May-Jun;7(3 Suppl):S1-5. Epub 2013 Mar 26.

Center for Human Nutrition, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1016/j.jacl.2013.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3691364PMC
October 2013

Mice lacking ANGPTL8 (Betatrophin) manifest disrupted triglyceride metabolism without impaired glucose homeostasis.

Proc Natl Acad Sci U S A 2013 Oct 16;110(40):16109-14. Epub 2013 Sep 16.

Howard Hughes Medical Institute and Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390.

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http://dx.doi.org/10.1073/pnas.1315292110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3791734PMC
October 2013

Genetics. Simple genetics for a complex disease.

Science 2013 May;340(6133):689-90

Departments of Internal Medicine and Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1126/science.1239101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3839083PMC
May 2013

Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis.

J Clin Invest 2012 Nov;122(11):4130-44

Department of Molecular Genetics, Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA, USA.

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http://dx.doi.org/10.1172/JCI65179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3484461PMC
November 2012

Atypical angiopoietin-like protein that regulates ANGPTL3.

Proc Natl Acad Sci U S A 2012 Nov 12;109(48):19751-6. Epub 2012 Nov 12.

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1073/pnas.1217552109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3511699PMC
November 2012

Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

J Lipid Res 2012 Sep 4;53(9):1932-43. Epub 2012 Jul 4.

Department of Molecular Genetics, Howard Hughes Medical Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1194/jlr.M028563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3413232PMC
September 2012

Deletion of GPIHBP1 causing severe chylomicronemia.

J Inherit Metab Dis 2012 May 19;35(3):531-40. Epub 2011 Oct 19.

Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1007/s10545-011-9406-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319888PMC
May 2012

Expression and characterization of a PNPLA3 protein isoform (I148M) associated with nonalcoholic fatty liver disease.

J Biol Chem 2011 Oct 30;286(43):37085-93. Epub 2011 Aug 30.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1074/jbc.M111.290114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199456PMC
October 2011

Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.

Hepatology 2011 Aug;54(2):736-7

Department of Internal Medicine, Howard Hughes Medical Institute, The University of Texas Southwestern Medical Center, Dallas, TX, USA.

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http://doi.wiley.com/10.1002/hep.24461
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http://dx.doi.org/10.1002/hep.24461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3492950PMC
August 2011

Human fatty liver disease: old questions and new insights.

Science 2011 Jun;332(6037):1519-23

Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1126/science.1204265DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3229276PMC
June 2011

Sequences in the nonconsensus nucleotide-binding domain of ABCG5/ABCG8 required for sterol transport.

J Biol Chem 2011 Mar 5;286(9):7308-14. Epub 2011 Jan 5.

Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, 75390-8591, USA.

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http://dx.doi.org/10.1074/jbc.M110.210880DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3044987PMC
March 2011

Dissociation between APOC3 variants, hepatic triglyceride content and insulin resistance.

Hepatology 2011 Feb 10;53(2):467-74. Epub 2010 Dec 10.

McDermott Center for Human Growth and Development, University of Texas, Southwestern Medical Center, Dallas, TX 75390-8591, USA.

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http://doi.wiley.com/10.1002/hep.24072
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http://dx.doi.org/10.1002/hep.24072DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3057507PMC
February 2011

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Hum Mol Genet 2010 Nov 18;19(22):4313-8. Epub 2010 Aug 18.

McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas,TX 75390, USA.

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http://dx.doi.org/10.1093/hmg/ddq352DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2957323PMC
November 2010

Mendelian disorders and multifactorial traits: the big divide or one for all?

Nat Rev Genet 2010 05;11(5):380-4

Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.

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http://www.nature.com/articles/nrg2793
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http://dx.doi.org/10.1038/nrg2793DOI Listing
May 2010

A feed-forward loop amplifies nutritional regulation of PNPLA3.

Proc Natl Acad Sci U S A 2010 Apr 12;107(17):7892-7. Epub 2010 Apr 12.

Departments of Molecular Genetics and Internal Medicine, The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1073/pnas.1003585107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2867902PMC
April 2010

A weighted false discovery rate control procedure reveals alleles at FOXA2 that influence fasting glucose levels.

Am J Hum Genet 2010 Mar 11;86(3):440-6. Epub 2010 Feb 11.

Donald W. Reynolds Cardiovascular Clinical Research Center, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1016/j.ajhg.2010.01.025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2833364PMC
March 2010

Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice.

Nature 2010 Mar 21;464(7287):409-12. Epub 2010 Feb 21.

Genomics Division, MS 84-171, Lawrence Berkeley National Laboratory, Berkeley, California 94720, USA.

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http://dx.doi.org/10.1038/nature08801DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2938076PMC
March 2010

Indices of cholesterol metabolism and relative responsiveness to ezetimibe and simvastatin.

J Clin Endocrinol Metab 2010 Feb 4;95(2):800-9. Epub 2009 Dec 4.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390-9046, USA.

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http://dx.doi.org/10.1210/jc.2009-1952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3079219PMC
February 2010

A sequence variation (I148M) in PNPLA3 associated with nonalcoholic fatty liver disease disrupts triglyceride hydrolysis.

J Biol Chem 2010 Feb 23;285(9):6706-15. Epub 2009 Dec 23.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1074/jbc.M109.064501DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2825465PMC
February 2010

Genetic and metabolic determinants of plasma PCSK9 levels.

J Clin Endocrinol Metab 2009 Jul 7;94(7):2537-43. Epub 2009 Apr 7.

Donald W. Reynolds Cardiovascular Clinical Research Center, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA.

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https://academic.oup.com/jcem/article-lookup/doi/10.1210/jc.
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http://dx.doi.org/10.1210/jc.2009-0141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2708952PMC
July 2009

Genetic variation in ANGPTL4 provides insights into protein processing and function.

J Biol Chem 2009 May 7;284(19):13213-22. Epub 2009 Mar 7.

Eugene McDermott Center for Human Growth and Development, Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1074/jbc.M900553200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2676053PMC
May 2009

PCSK9: a convertase that coordinates LDL catabolism.

J Lipid Res 2009 Apr 19;50 Suppl:S172-7. Epub 2008 Nov 19.

Department of Internal Medicine, The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1194/jlr.R800091-JLR200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2674748PMC
April 2009

Rare loss-of-function mutations in ANGPTL family members contribute to plasma triglyceride levels in humans.

J Clin Invest 2009 Jan 15;119(1):70-9. Epub 2008 Dec 15.

Donald W. Reynolds Cardiovascular Clinical Research Center and Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, USA.

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http://dx.doi.org/10.1172/JCI37118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2613476PMC
January 2009

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Nat Genet 2008 Dec 25;40(12):1461-5. Epub 2008 Sep 25.

Donald W Reynolds Cardiovascular Clinical Research Center, Eugene McDermott Center for Human Growth and Development, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1038/ng.257DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597056PMC
December 2008

Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor.

Proc Natl Acad Sci U S A 2008 Sep 27;105(35):13045-50. Epub 2008 Aug 27.

Department of Molecular Genetics, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390-8591, USA.

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http://dx.doi.org/10.1073/pnas.0806312105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2526098PMC
September 2008

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

Hum Mol Genet 2008 Jul 15;17(14):2101-7. Epub 2008 Apr 15.

Department of Molecular Genetics, , UT Southwestern Medical Center at Dallas, Dallas, TX 75390, USA

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http://dx.doi.org/10.1093/hmg/ddn108DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2441721PMC
July 2008

Purification and reconstitution of sterol transfer by native mouse ABCG5 and ABCG8.

Biochemistry 2008 May 11;47(18):5194-204. Epub 2008 Apr 11.

Eugene McDermott Center for Human Growth and Development, Department of Internal Medicine, and the Howard Hughes Medical Institute, University of Texas Southwestern Medical Center, Dallas, Texas 75390-8591, USA.

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http://dx.doi.org/10.1021/bi800292vDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2707165PMC
May 2008

Identification of a VLDL-induced, FDNPVY-independent internalization mechanism for the LDLR.

EMBO J 2007 Jul 21;26(14):3273-82. Epub 2007 Jun 21.

Department of Cell Biology, The University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1038/sj.emboj.7601769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1933400PMC
July 2007

Binding of proprotein convertase subtilisin/kexin type 9 to epidermal growth factor-like repeat A of low density lipoprotein receptor decreases receptor recycling and increases degradation.

J Biol Chem 2007 Jun 23;282(25):18602-12. Epub 2007 Apr 23.

Department of Molecular Genetics, the Donald W. Reynolds Cardiovascular Clinical Research Center, Howard Hughes Institute, University of Texas Southwestern Medical Center, Dallas 75390, USA.

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http://dx.doi.org/10.1074/jbc.M702027200DOI Listing
June 2007

Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL.

Nat Genet 2007 Apr 25;39(4):513-6. Epub 2007 Feb 25.

Donald W. Reynolds Cardiovascular Clinical Research Center, the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1038/ng1984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2762948PMC
April 2007

Molecular biology of PCSK9: its role in LDL metabolism.

Trends Biochem Sci 2007 Feb 9;32(2):71-7. Epub 2007 Jan 9.

Departments of Internal Medicine and Molecular Genetics, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1016/j.tibs.2006.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2711871PMC
February 2007

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

J Clin Invest 2007 Jan;117(1):165-74

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.

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http://dx.doi.org/10.1172/JCI29415DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1716209PMC
January 2007

Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands.

J Biol Chem 2006 Sep 20;281(38):27816-26. Epub 2006 Jul 20.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, 75390, USA.

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http://dx.doi.org/10.1074/jbc.M603781200DOI Listing
September 2006

Sterol transfer by ABCG5 and ABCG8: in vitro assay and reconstitution.

J Biol Chem 2006 Sep 25;281(38):27894-904. Epub 2006 Jul 25.

Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, 75390-8591, USA.

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http://dx.doi.org/10.1074/jbc.M605603200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4527585PMC
September 2006

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

Am J Hum Genet 2006 Sep 18;79(3):514-23. Epub 2006 Jul 18.

Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, TX 75390, USA.

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http://dx.doi.org/10.1086/507488DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1559532PMC
September 2006

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

Am J Hum Genet 2006 Mar 20;78(3):410-22. Epub 2006 Jan 20.

McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, 75390-9046, USA.

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http://dx.doi.org/10.1086/500615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1380285PMC
March 2006

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

N Engl J Med 2006 Mar;354(12):1264-72

Donald W. Reynolds Cardiovascular Clinical Research Center, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://www.nejm.org/doi/abs/10.1056/NEJMoa054013
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March 2006

Functional asymmetry of nucleotide-binding domains in ABCG5 and ABCG8.

J Biol Chem 2006 Feb 12;281(7):4507-16. Epub 2005 Dec 12.

McDermott Center for Human Growth and Development, the Department of Molecular Genetics, University of Texas Southwestern Medical Center, 75390, USA.

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http://dx.doi.org/10.1074/jbc.M512277200DOI Listing
February 2006

Multiple rare variants in NPC1L1 associated with reduced sterol absorption and plasma low-density lipoprotein levels.

Proc Natl Acad Sci U S A 2006 Feb 31;103(6):1810-5. Epub 2006 Jan 31.

Donald W. Reynolds Cardiovascular Clinical Research Center, Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390-9052, USA.

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http://dx.doi.org/10.1073/pnas.0508483103DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1413637PMC
February 2006

WholePathwayScope: a comprehensive pathway-based analysis tool for high-throughput data.

BMC Bioinformatics 2006 Jan 19;7:30. Epub 2006 Jan 19.

Advanced Biomedical Computing Center, National Cancer Institute-Frederick/SAIC-Frederick Inc., Frederick, MD 21702, USA.

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http://dx.doi.org/10.1186/1471-2105-7-30DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1388242PMC
January 2006

The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits.

J Biol Chem 2005 Dec 22;280(49):40996-1004. Epub 2005 Sep 22.

Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390-8591, USA.

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http://dx.doi.org/10.1074/jbc.M509394200DOI Listing
December 2005

A phylogenetic survey of biliary lipids in vertebrates.

J Lipid Res 2005 Oct 1;46(10):2221-32. Epub 2005 Aug 1.

Department of Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1194/jlr.M500178-JLR200DOI Listing
October 2005

Dual roles for cholesterol in mammalian cells.

Proc Natl Acad Sci U S A 2005 Oct 30;102(41):14551-6. Epub 2005 Sep 30.

Center for Human Nutrition, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

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http://www.pnas.org/cgi/doi/10.1073/pnas.0503590102
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1239893PMC
October 2005

Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8.

J Lipid Res 2005 Aug 1;46(8):1739-44. Epub 2005 Jun 1.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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August 2005

ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile.

J Lipid Res 2005 Aug 1;46(8):1732-8. Epub 2005 Jun 1.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1194/jlr.M500115-JLR200DOI Listing
August 2005

Lack of MEF2A mutations in coronary artery disease.

J Clin Invest 2005 Apr;115(4):1016-20

US Department of Energy, Joint Genome Institute, Walnut Creek, California, USA.

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http://dx.doi.org/10.1172/JCI24186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1070426PMC
April 2005

Expression of ABCG5 and ABCG8 is required for regulation of biliary cholesterol secretion.

J Biol Chem 2005 Mar 16;280(10):8742-7. Epub 2004 Dec 16.

McDermott Center for Human Growth and Development, Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA.

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http://www.jbc.org/cgi/doi/10.1074/jbc.M411080200
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March 2005

Lipoprotein(a) and apolipoprotein(a) isoforms: no association with coronary artery calcification in the Dallas Heart Study.

Circulation 2005 Mar 21;111(12):1471-9. Epub 2005 Mar 21.

Donald W. Reynolds Center for Clinical Cardiovascular Research, Dallas, Tex, USA.

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http://dx.doi.org/10.1161/01.CIR.0000159263.50305.BDDOI Listing
March 2005

No association between plasma levels of plant sterols and atherosclerosis in mice and men.

Arterioscler Thromb Vasc Biol 2004 Dec 28;24(12):2326-32. Epub 2004 Oct 28.

Donald W. Reynolds Cardiovascular Clinical Research Center at Dallas, University of Texas Southwestern Medical Center at Dallas, Tex 75390-9046, USA.

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https://www.ahajournals.org/doi/10.1161/01.ATV.0000149140.00
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December 2004

Prevalence of hepatic steatosis in an urban population in the United States: impact of ethnicity.

Hepatology 2004 Dec;40(6):1387-95

Donald W. Reynolds Cardiovascular Clinical Research Center, Department of Internal Medicine, The University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1002/hep.20466DOI Listing
December 2004

Disruption of cholesterol homeostasis by plant sterols.

J Clin Invest 2004 Sep;114(6):813-22

Department of Molecular Genetics, McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas 75390-9046, USA.

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http://www.jci.org/articles/view/22186
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC516266PMC
September 2004

The modular adaptor protein ARH is required for low density lipoprotein (LDL) binding and internalization but not for LDL receptor clustering in coated pits.

J Biol Chem 2004 Aug 27;279(32):34023-31. Epub 2004 May 27.

Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1074/jbc.M405242200DOI Listing
August 2004

High-level expression of ABCG5 and ABCG8 attenuates diet-induced hypercholesterolemia and atherosclerosis in Ldlr-/- mice.

J Lipid Res 2004 Aug 1;45(8):1429-36. Epub 2004 Jun 1.

Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, TX 75290, USA.

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http://www.jlr.org/lookup/doi/10.1194/jlr.M400167-JLR200
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August 2004

Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Science 2004 Aug;305(5685):869-72

Donald W. Reynolds Cardiovascular Clinical Research Center and McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1099870
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August 2004

Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.

J Biol Chem 2004 Jun 30;279(23):24881-8. Epub 2004 Mar 30.

McDermott Center for Human Growth and Development and Department of Molecular Genetics, University of Texas Southwestern Medical Center at Dallas, 75390, USA.

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http://dx.doi.org/10.1074/jbc.M402634200DOI Listing
June 2004

Selective sterol accumulation in ABCG5/ABCG8-deficient mice.

J Lipid Res 2004 Feb 1;45(2):301-7. Epub 2003 Dec 1.

McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1194/jlr.M300377-JLR200DOI Listing
February 2004

ABCG5 and ABCG8 are obligate heterodimers for protein trafficking and biliary cholesterol excretion.

J Biol Chem 2003 Nov 22;278(48):48275-82. Epub 2003 Sep 22.

McDermott Center for Human Growth and Development and Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, 75390, USA.

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http://dx.doi.org/10.1074/jbc.M310223200DOI Listing
November 2003

Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia.

J Biol Chem 2003 Aug 13;278(31):29024-30. Epub 2003 May 13.

Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046, USA.

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http://dx.doi.org/10.1074/jbc.M304855200DOI Listing
August 2003

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Nature 2003 Jul 6;424(6947):443-7. Epub 2003 Jul 6.

Department of Pediatrics, University of Texas Southwestern Medical Center at Dallas, 6000 Harry Hines Boulevard, Rm. NA8.124, Dallas, Texas 75390-9148, USA.

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http://dx.doi.org/10.1038/nature01827DOI Listing
July 2003

Stimulation of cholesterol excretion by the liver X receptor agonist requires ATP-binding cassette transporters G5 and G8.

J Biol Chem 2003 May 22;278(18):15565-70. Epub 2003 Feb 22.

McDermott Center for Human Growth and Development, Departments of Molecular Genetics and Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1074/jbc.M301311200DOI Listing
May 2003

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Curr Opin Lipidol 2003 Apr;14(2):121-7

McDermott Center for Human Growth and Development, Center for Human Nutrition, Department of Internal Medicine, The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center at Dallas, USA.

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http://dx.doi.org/10.1097/01.mol.0000064044.68936.6aDOI Listing
April 2003

Endothelial lipase: direct evidence for a role in HDL metabolism.

Authors:
Jonathan C Cohen

J Clin Invest 2003 Feb;111(3):318-21

McDermott Center for Human Growth and Development, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center at Dallas, Dallas, Texas 75390, USA.

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http://dx.doi.org/10.1172/JCI17744DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC151874PMC
February 2003

Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion.

Proc Natl Acad Sci U S A 2002 Dec 20;99(25):16237-42. Epub 2002 Nov 20.

McDermott Center for Human Growth and Development and Departments of Molecular Genetics and Biochemistry, The Howard Hughes Medical Institute and Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, TX 75390-9046, USA.

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http://dx.doi.org/10.1073/pnas.252582399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC138595PMC
December 2002

ARH is a modular adaptor protein that interacts with the LDL receptor, clathrin, and AP-2.

J Biol Chem 2002 Nov 8;277(46):44044-9. Epub 2002 Sep 8.

McDermott Center for Human Growth and Development, the Howard Hughes Medical Institute, University of Texas Southwestern Medical Center at Dallas, 75290, USA.

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http://dx.doi.org/10.1074/jbc.M208539200DOI Listing
November 2002

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Hum Mol Genet 2002 Nov;11(24):3019-30

McDermott Center for Human Growth and Development, Department of Molecular Genetics, The Howard Hughes Medical Institute, University of Texas Southwestern Medical Center at Dallas, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA.

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http://dx.doi.org/10.1093/hmg/11.24.3019DOI Listing
November 2002

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.

Hum Mol Genet 2002 Nov;11(24):3031-8

Genome Sciences Department, MS 84-171, Lawrence Berkeley National Laboratory, One Cyclotron Road, Berkeley, CA 94720, USA.

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http://dx.doi.org/10.1093/hmg/11.24.3031DOI Listing
November 2002