Minimally invasive detection of cell death could prove an invaluable resource in many
physiologic and pathologic situations. Cell-free circulating DNA (cfDNA) released from dying cells …

Pendred syndrome is a recessively inherited disorder with the hallmark features of congenital
deafness and thyroid goitre. By some estimates, the disorder may account for upwards of …

Spontaneous hyperinsulinemic hypoglycemia in adults is most frequently caused by sporadic,
solitary pancreatic beta-cell tumors, whereas hyperinsulinemic hypoglycemia in childhood …

Loss-of-function mutations protective against human disease provide in vivo validation of
therapeutic targets 1 , 2 , 3 , but none have yet been described for type 2 diabetes (T2D). …

Recent studies revealed a surprising regenerative capacity of insulin-producing β cells in
mice, suggesting that regenerative therapy for human diabetes could in principle be achieved. …

OBJECTIVE Type 2 diabetes is a slowly progressive disease, in which the gradual deterioration
of glucose tolerance is associated with the progressive decrease in β-cell function. …

Methylation patterns of circulating cell-free DNA (cfDNA) contain rich information about recent
cell death events in the body. Here, we present an approach for unbiased determination of …

Cellular senescence is thought to contribute to age-associated deterioration of tissue physiology.
The senescence effector p16 Ink4a is expressed in pancreatic beta cells during aging …

Hyperinsulinism of infancy (HI), also known as persistent hyperinsulinemic hypoglycemia of
infancy, is a rare genetic disorder that occurs in approximately 1 of 50,000 live births. …

We studied genes involved in pancreatic β cell function and survival, identifying associations
between SNPs in WFS1 and diabetes risk in UK populations that we replicated in an …