Genetic and environmental factors as well as their interactions contribute to the
pathogenesis of type 2 diabetes. Linkage analysis, candidate gene approaches, genome …

Introduction Male hypogonadism is a common condition, with an increasing body of
literature on diagnosis, implications, and management. Given the significant variability in …

Genetic factors contribute strongly to sex hormone levels, yet knowledge of the regulatory
mechanisms remains incomplete. Genome-wide association studies (GWAS) have identified …

Vascular endothelial growth factor (VEGF) is an angiogenic and neurotrophic factor,
secreted by endothelial cells, known to impact various physiological and disease processes …

A challenge in clinical genomics is to predict whether copy number variation (CNV) affecting
a gene or multiple genes will manifest as disease. Increasing recognition of gene dosage …

Orphan nuclear receptors are members of the nuclear receptor (NR) superfamily and are so
named because their endogenous physiological ligands are either unknown or may not …

Atopic dermatitis (AD) is a common and complex skin disease associated with both genetic
and environmental factors. Loss-of-function mutations in the filaggrin gene, encoding a …

Background Aromatase inhibitor (AI) therapy is associated with musculoskeletal (MS)
toxicity, which adversely affects quality of life and therapy adherence. Our objective was to …

Background Transposition of the great arteries (TGA) is an uncommon but severe congenital
heart malformation of unknown etiology. Rare copy number variations (CNVs) have been …

Background In previous work in young women aged 15–30 years we measured breast water
and fat using MR and obtained blood for hormone assays on the same day in the follicular …