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Cone-rod dystrophies are inherited dystrophies of the retina characterized by the accumulation of deposits mainly localized to the cone-rich macular region of the eye. Dystrophy can be limited to the retina or be part of a syndrome. Unlike nonsyndromic con ...
Low-density lipoprotein cholesterol (LDL-C) levels and interleukin 28B (IL28B) polymorphism are associated with sustained viral response (SVR) to peginterferon/ribavirin (pegIFN/RBV) for chronic hepatitis C (CHC) infection. IL28B has been linked with LDL-C ...
Pathogens are a main driving force of the evolution of plants and animals. Being resistant to diseases confers a high selective advantage to hosts, yet many host–pathogen systems show a remarkable degree of polymorphism of host resistance and pathogen viru ...
Visual backward masking (BM) deficits are often proposed to be trait markers for schizophrenia revealing the genetic underpinnings of the disease. Here, we show that, indeed, masking deficits in the shine-through effect are associated with polymorphisms in ...
Metabolic homeostasis is achieved by complex molecular and cellular networks that differ significantly among individuals and are difficult to model with genetically engineered lines of mice optimized to study single gene function. Here, we systematically a ...
Gene-disease associations studies are performed in an increasing number since the creation of the HapMap Project. These studies are used to investigate regions or genes in the genome for which one has an indication or a belief that they can be associated w ...
A method is described to discover if a gene carries one or more allelic mutations that confer risk for any specified common disease. The method does not depend upon genetic linkage of risk-conferring mutations to high frequency genetic markers such as sing ...
This analysis is a follow-up to an earlier investigation of 182 genes selected as likely candidate genetic variations conferring susceptibility to anorexia nervosa (AN). As those initial case-control results revealed no statistically significant difference ...
Understanding the relationship between genetic and phenotypic variation is one of the great outstanding challenges in biology. To meet this challenge, comprehensive genomic variation maps of human as well as of model organism populations are required. Here ...
HIV host genetic studies seek to describe as comprehensively as possible the effect of human genetic variation on the individual response to HIV type-1 (HIV-1) infection. Many associations between specific gene variants and HIV-1 disease outcomes have been ...