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BACKGROUND High plasma HDL cholesterol is associated with reduced risk of myocardial infarction, but whether this association is causal is unclear. Exploiting the fact that genotypes are randomly assigned at meiosis, are independent of non-genetic confounding, and are unmodified by disease processes, mendelian randomisation can be used to test the(More)
Infectious and inflammatory diseases have repeatedly shown strong genetic associations within the major histocompatibility complex (MHC); however, the basis for these associations remains elusive. To define host genetic effects on the outcome of a chronic viral infection, we performed genome-wide association analysis in a multiethnic cohort of HIV-1(More)
The process known as 'recovery' by which virus-infected plants become resistant to the infection is an interesting phenomenon where both RNA silencing and virus resistance fully converge. In a previous study, we showed that transgenic Nicotiana benthamiana NIbV3 plants, transformed with a mutated NIb coding sequence from Plum pox virus (PPV), showed a(More)
We sequenced all protein-coding regions of the genome (the "exome") in two family members with combined hypolipidemia, marked by extremely low plasma levels of low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, and triglycerides. These two participants were compound heterozygotes for two distinct nonsense mutations in(More)
Although antiphospholipid antibodies have been detected in patients with human immunodeficiency virus (HIV) disease, the clinical manifestations of the antiphospholipid syndrome are extremely rare. We describe a woman with acquired immunodeficiency syndrome (AIDS) and elevated antiphospholipid antibodies who developed necrotic skin lesions and was(More)
Subcutaneous tophaceous deposits of monosodium urate, in the absence of arthritis, may occasionally occur as the initial manifestation of gout. In this report, we describe a 35-year-old man who presented with a 6-year history of multiple subcutaneous nodules and no history of previous articular complaints. Needle aspirations of the nodules proved them to be(More)
OBJECTIVE Scrotal lymphedema (SL) is a rare clinical pathology with multiple etiologies. We report a case of idiopathic giant scrotal lymphedema and review the existing medical literature in Medline from the last ten years. METHODS We report the case of a male patient with a giant scrotal lymphedema (43×40 cm) of unknown etiology developed over four(More)
Plasma concentrations of total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol and triglycerides are among the most important risk factors for coronary artery disease (CAD) and are targets for therapeutic intervention. We screened the genome for common variants associated with plasma lipids in >100,000 individuals of(More)
HERC1 is a very large protein involved in membrane traffic through both its ability to bind clathrin and its guanine nucleotide exchange factor (GEF) activity over ARF and Rab family GTPases. Herein, we show that HERC1 is recruited onto actin-rich surface protrusions in ARF6-transfected HeLa cells upon aluminum fluoride (AlF(4)(-)) treatment. Moreover, the(More)