List of works by Jonathan C. Cohen

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

scientific article published in March 2018

A common allele on chromosome 9 associated with coronary heart disease

scientific article

A feed-forward loop amplifies nutritional regulation of PNPLA3

scientific article

A hepatic lipase (LIPC) allele associated with high plasma concentrations of high density lipoprotein cholesterol

scientific article

A phylogenetic survey of biliary lipids in vertebrates

scientific article published in August 2005

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

scientific article

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

scientific article

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

scientific article

ABCG5 and ABCG8 Are Obligate Heterodimers for Protein Trafficking and Biliary Cholesterol Excretion ⬇️

scientific article published on September 22, 2003

ABCG5 and ABCG8 require MDR2 for secretion of cholesterol into bile

scientific article

ANGPTL3 blockade with a human monoclonal antibody reduces plasma lipids in dyslipidemic mice and monkeys.

scientific article published on 11 May 2015

ANGPTL8 Blockade With a Monoclonal Antibody Promotes Triglyceride Clearance, Energy Expenditure, and Weight Loss in Mice

scientific article published on 15 February 2017

ANGPTL8 has both endocrine and autocrine effects on substrate utilization

scientific article published on 30 July 2020

ANGPTL8 requires ANGPTL3 to inhibit lipoprotein lipase and plasma triglyceride clearance

scientific article published on 15 April 2017

ANGPTL8/betatrophin does not control pancreatic beta cell expansion

scientific article

APOC3, coronary disease, and complexities of Mendelian randomization.

scientific article

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

scientific article

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

scientific article

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

scientific article published on 24 April 2017

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

scientific article published on 26 October 2015

Allelic variation in the gene encoding the cholesteryl ester transfer protein is associated with variation in the plasma concentrations of cholesteryl ester transfer protein

scientific article published on 01 August 1996

An apolipoprotein influencing triglycerides in humans and mice revealed by comparative sequencing

scientific article

Angiopoietin-like protein 3 (ANGPTL3) governs LDL-cholesterol levels through endothelial lipase-dependent VLDL clearance

scientific article published on 09 July 2020

Atypical angiopoietin-like protein that regulates ANGPTL3

scientific article

Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis

scientific article (publication date: 9 March 2002)

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

scientific article (publication date: 18 May 2001)

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

scientific article

Body mass index and hepatic lipase gene (LIPC) polymorphism jointly influence postheparin plasma hepatic lipase activity

scientific article published on 01 May 1998

Chronic overexpression of PNPLA3I148M in mouse liver causes hepatic steatosis

scientific article

Cloning and mutational analysis of human malonyl-coenzyme A decarboxylase

scientific article

Cloning of the human cholesterol 7 alpha-hydroxylase gene (CYP7) and localization to chromosome 8q11-q12

scientific article (publication date: September 1992)

Coexpression of ATP-binding cassette proteins ABCG5 and ABCG8 permits their transport to the apical surface

scientific article

Common single-nucleotide polymorphisms act in concert to affect plasma levels of high-density lipoprotein cholesterol.

scientific article published on December 2007

Comparative analysis of the apo(a) gene, apo(a) glycoprotein, and plasma concentrations of Lp(a) in three ethnic groups. Evidence for no common "null" allele at the apo(a) locus

scientific article

Crystal structure of the human sterol transporter ABCG5/ABCG8.

scientific article published on 04 May 2016

Deletion of GPIHBP1 causing severe chylomicronemia

scientific article published on 19 October 2011

Determinants of plasma platelet-activating factor acetylhydrolase: heritability and relationship to plasma lipoproteins

scientific article published in November 1997

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

scientific article

Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia

scientific article

Disruption of cholesterol homeostasis by plant sterols

scientific article published on September 2004

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

scientific article

Dual roles for cholesterol in mammalian cells

scientific article

Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia

scientific article

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

scientific article

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

scientific article

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

scientific article

Extension of the Haseman–Elston method to multiple alleles and multiple loci: theory and practice for candidate genes ⬇️

scientific article published on May 1, 1997

Ezetimibe normalizes metabolic defects in mice lacking ABCG5 and ABCG8.

scientific article published in June 2005

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

scientific article

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

scientific article

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

scientific article published on 15 April 2008

Genetic analysis of a polymorphism in the human apolipoprotein A-I gene promoter: effect on plasma HDL-cholesterol levels

scientific article published on 01 July 1994

Genetic and metabolic determinants of plasma PCSK9 levels

scientific article

Genetic and phenotypic architecture of metabolic syndrome-associated components in dyslipidemic and normolipidemic subjects: The GEMS Study

article

Genetic defenses against hypercholesterolemia

scientific article

Genetic factors that contribute to interindividual variations in plasma low density lipoprotein-cholesterol levels.

scientific article published on January 1996

Genetic variant in PNPLA3 is associated with nonalcoholic fatty liver disease in China

scientific article published on January 2012

Genetic variation in ANGPTL4 provides insights into protein processing and function

scientific article published on 7 March 2009

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

scientific article (publication date: December 2008)

Genetics. Simple genetics for a complex disease

scientific article published on May 2013

Genome-wide linkage and association analyses to identify genes influencing adiponectin levels: the GEMS Study

scientific article

HSD17B13 and Chronic Liver Disease in Blacks and Hispanics

scientific article published on 01 November 2018

Hepatic ANGPTL3 regulates adipose tissue energy homeostasis

scientific article

Hepatic lipase (LIPC) promoter polymorphism in men with coronary artery disease. Allele frequency and effects on hepatic lipase activity and plasma HDL-C concentrations

scientific article published on 01 August 1999

Hepatic lipase activity influences high density lipoprotein subclass distribution in normotriglyceridemic men. Genetic and pharmacological evidence

scientific article published on 01 February 1999

Hepatic lipase activity is lower in African American men than in white American men: effects of 5' flanking polymorphism in the hepatic lipase gene (LIPC).

scientific article published in January 1998

Hepatic lipase: new insights from genetic and metabolic studies

scientific article

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

scientific article

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

scientific article (publication date: March 2002)

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

scientific article

Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology

scientific article published on 08 February 2012

Human fatty liver disease: old questions and new insights

scientific article published on June 2011

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

scientific article

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

scientific article published on 21 June 2007

Impaired mitochondrial fatty acid oxidative flux in fibroblasts from a patient with malonyl-CoA decarboxylase deficiency

scientific article published in July 2001

Inactivation of ANGPTL3 reduces hepatic VLDL-triglyceride secretion

scientific article published on 7 May 2015

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

scientific article

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

scientific article published on 22 January 2018

Indices of cholesterol metabolism and relative responsiveness to ezetimibe and simvastatin

scientific article

Lack of MEF2A mutations in coronary artery disease

scientific article

Linkage between cholesterol 7alpha-hydroxylase and high plasma low-density lipoprotein cholesterol concentrations

scientific article published on March 1998

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

scientific article

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

scientific article

Medical sequencing at the extremes of human body mass

scientific article published on 5 March 2007

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

scientific journal article

Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking

scientific article published on 30 March 2004

Molecular biology of PCSK9: its role in LDL metabolism

scientific article (publication date: February 2007)

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

scientific article published in July 2001

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

scientific article

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

scientific article

Molecular definition of the extreme size polymorphism in apolipoprotein(a).

scientific article published in July 1993

Molecular mechanisms of autosomal recessive hypercholesterolemia

scientific article

Molecular mechanisms of autosomal recessive hypercholesterolemia.

scientific article

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

scientific article

Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol

scientific article

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

scholarly article

Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia

scientific article (publication date: October 2001)

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

scientific article published on 28 October 2004

No association between polymorphism in PEMT (V175M) and hepatic triglyceride content in the Dallas Heart Study

scientific article published on 01 October 2006

Normal Sorting but Defective Endocytosis of the Low Density Lipoprotein Receptor in Mice with Autosomal Recessive Hypercholesterolemia ⬇️

scientific article (publication date: August 2003)

Overexpression of ABCG5 and ABCG8 promotes biliary cholesterol secretion and reduces fractional absorption of dietary cholesterol

scientific article

P299 RELATIVE RESPONSIVENESS TO LDL-LOWERING AGENTS THAT BLOCK CHOLESTEROL ABSORPTION (EZETIMIBE) AND INHIBIT CHOLESTEROL SYNTHESIS (SIMVASTATIN)

scientific article published in June 2010

PCSK9: a convertase that coordinates LDL catabolism

scientific article

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

scientific article published on 9 April 2019

Patatin-like phospholipase domain-containing 3 and the pathogenesis and progression of pediatric nonalcoholic fatty liver disease ⬇️

scientific article published on October 1, 2010

Patatin-like phospholipase domain-containing protein 3 promotes transfer of essential fatty acids from triglycerides to phospholipids in hepatic lipid droplets.

scientific article published on 19 March 2018

Patatin-like phospholipase domain-containing protein 3 promotes transfer of essential fatty acids from triglycerides to phospholipids in hepatic lipid droplets.

scientific article published in June 2018

Plasma platelet-activating factor acetylhydrolase activity is not associated with premature coronary atherosclerosis

scientific article published on 01 January 1999

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

scientific article

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

scientific article published on 25 February 2007

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

scientific article (publication date: December 2004)

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

scientific article published on 11 April 2008

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

scientific article published on 15 December 2008

Relation between atherogenic dyslipidemia and the Adult Treatment Program-III definition of metabolic syndrome (Genetic Epidemiology of Metabolic Syndrome Project).

scientific article published in January 2005

Relationship between Genetic Variation at PPP1R3B and Liver Glycogen and Triglyceride Levels

scientific article published on 21 December 2017

Relative roles of ABCG5/ABCG8 in liver and intestine

scientific article

Reply

scientific article published on 21 August 2015

Response to Wang et al.

scientific article

Selective sterol accumulation in ABCG5/ABCG8-deficient mice

scientific article published on December 2003

Sequence diversity in genes of lipid metabolism

scientific article

Sequence polymorphisms in the apolipoprotein (a) gene. Evidence for dissociation between apolipoprotein(a) size and plasma lipoprotein(a) levels.

scientific article

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

scientific article (publication date: 23 March 2006)

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

scientific article

Sources of variability in genetic association studies: insights from the analysis of hepatic lipase (LIPC).

scientific article published in May 2002

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

scientific article published on 20 July 2006

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

scientific article published on 25 July 2006

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

scientific article published on 22 February 2003

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

scientific article

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

scientific article

The -514 polymorphism in the hepatic lipase gene (LIPC) does not influence androgen-mediated stimulation of hepatic lipase activity.

scientific article

The Apo(a) gene is the major determinant of variation in plasma Lp(a) levels in African Americans

scientific article

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

scientific article published on 18 May 2017

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

scientific article

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

scientific article published on 22 September 2005

Three polymorphisms associated with low hepatic lipase activity are common in African Americans.

scientific article published in September 1998

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels

scientific article (publication date: 15 November 2002)

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

scientific article published on 07 February 2017

Variation at the hepatic lipase and apolipoprotein AI/CIII/AIV loci is a major cause of genetically determined variation in plasma HDL cholesterol levels

scientific article published in December 1994

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

scientific article

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