Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

Bethan S. Jones, Emma Jones, Stephanie A. Bonney, +18

Nature Genetics

Copii VesiclesProteinlipid InteractionSignal TransductionBiochemistrySar1 Gtpase +12

Linkage and Association Between Distinct Variants of the <i>APOA1/C3/A4/A5</i> Gene Cluster and Familial Combined Hyperlipidemia

Sophie Eichenbaum‐Voline, Michael Olivier, Emma L. Jones, +11

Arteriosclerosis Thrombosis and Vascular Biology

Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia

Dennis Norman, Xi‐Ming Sun, Mafalda Bourbon, +3

Journal of Clinical Investigation

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

Emily R. Eden, Dilipkumar Patel, Xi‐Ming Sun, +7

Journal of Clinical Investigation

Familial HypercholesterolemiaAutoimmune DiseaseGenetic DisorderGeneticsImmunology +13

Increased Hepatic Secretion of Very-Low-Density Lipoprotein Apolipoprotein B-100 in Obesity: A Stable Isotope Study

Michael H. Cummings, Gerald F. Watts, Cauvery Pal, +4

Clinical Science

Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1

Emily R. Eden, Dilipkumar Patel, Xi‐Ming Sun, +7

Journal of Clinical Investigation

GeneticsImmunologyGenetic EpidemiologyHyperlipidemiaRetroviral Expression +22

Determinants of Variable Response to Statin Treatment in Patients With Refractory Familial Hypercholesterolemia

F.H. O’Neill, Dilip D. Patel, Brian L. Knight, +6

Arteriosclerosis Thrombosis and Vascular Biology

Confirmed Locus on Chromosome 11p and Candidate Loci on 6q and 8p for the Triglyceride and Cholesterol Traits of Combined Hyperlipidemia

Rossitza P. Naoumova, Stephanie A. Bonney, Sophie Eichenbaum‐Voline, +14

Arteriosclerosis Thrombosis and Vascular Biology

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia in Two Unrelated Families

Emily R. Eden, Rossitza P. Naoumova, Jemima J. Burden, +2

The American Journal of Human Genetics

Genetic AnalysisMendelian DisorderGenetic DisorderMedicineGenetics +8

Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment

Rossitza P. Naoumova, Clare Neuwirth, Philip Lee, +3

Atherosclerosis

Lipid DisorderCardiovascular DiseaseInherited Metabolic DiseaseAutosomal Recessive HypercholesterolaemiaHyperlipidemia +5