Preclinical

Alzheimer disease (AD) is characterized by the accumulation of amyloid b (Ab) and tau aggregates in the brain. The progression...

Tuberculosis (TB) is the leading cause of death by an infectious disease. Identifying affected individuals, particularly if they are asymptomatic,...

1. A G551D missense mutation in the cystic fibrosis transmembrane conductance receptor (CFTR) is a genetic cause of cystic fibrosis...

1. Haploinsufficiency of Sim1 or Mc4r in the hypothalamus result in an obesity phenotype in mice and humans. 2. In...

1. Truncating mutations in cardiac myosin-binding protein C (MYBPC3) are a common genetic cause of hypertrophic cardiomyopathy. 2. Haploinsufficiency of...

1. IL-2 is a central cytokine that enhances the immune response, with considerable potential for the treatment of cancer. 2....

1. The clinical manifestations of preeclampsia result largely from excess circulating soluble vascular endothelial growth factor receptor (sFLT1), produced by...

1. α-melanocyote stimulating hormone (α -MSH) and its analogs can bind tightly to the melanocortin-1 receptor (MC1R), a G protein-coupled...

1. This secondary analysis of genetic data emphasized the high number of potentially “pathogenic” variants that are revealed through exome...

1. Mutations in the gene encoding dystrophin, a large scaffolding protein that supports muscle cell structure, result in Duchenne muscular...