The transient receptor potential superfamily of ion channels (TRP channels) is widely
recognized for the roles its members play in sensory nervous systems. However, the …

Before a lead compound goes through a clinical trial, preclinical studies utilize two‐
dimensional (2D) in vitro models and animal models to study the pharmacodynamics and …

Polycystic kidney disease (PKD) is a life-threatening disorder, commonly caused by defects
in polycystin-1 (PC1) or polycystin-2 (PC2), in which tubular epithelia form fluid-filled cysts …

The ob gene product, leptin, is an important circulating signal for the regulation of body
weight. To identify high affinity leptin-binding sites, we generated a series of leptin-alkaline …

Recent advances in defining the genetic mechanisms of disease causation and modification
in autosomal dominant polycystic kidney disease (ADPKD) have helped to explain some …

Autosomal dominant polycystic kidney disease is the most prevalent, potentially lethal,
monogenic disorder. It is associated with large interfamilial and intrafamilial variability, which …

A second gene for autosomal dominant polycystic kidney disease was identified by
positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in …

A number of inherited disorders result in renal cyst development. The most common form,
autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed …

Spinal muscular atrophy (SMA) is a recessive disorder characterized by loss of motor
neurons in the spinal cord. It is caused by mutations in the telomeric survival motor neuron 1 …

Intraflagellar transport (IFT) is a rapid movement of multi-subunit protein particles along
flagellar microtubules and is required for assembly and maintenance of eukaryotic flagella …