Background Heterozygous activating mutations in KCNJ11, encoding the Kir6.2 subunit of
the ATP-sensitive potassium (K ATP ) channel, cause 30 to 58 percent of cases of diabetes …

Background Patients with permanent neonatal diabetes usually present within the first three
months of life and require insulin treatment. In most, the cause is unknown. Because ATP-…

Ruth Loos and colleagues report findings from a meta-analysis of multiple studies examining
the extent to which physical activity attenuates effects of a specific gene variant, FTO, on …

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). …

Mutations in the homeodomain-containing transcription factor hepatocyte nuclear factor (HNF)-1β
are the cause of one form of maturity-onset diabetes of the young (MODY), type 5 (…

Diabetes mellitus is a heterogeneous disorder that can occur at any age. Neonatal diabetes
mellitus, defined as insulin-requiring hyperglycemia within the first month of life, is a rare …

Permanent neonatal diabetes (PND) can be caused by mutations in the transcription factors
insulin promoter factor (IPF)-1, eukaryotic translation initiation factor-2α kinase 3 (EIF2AK3), …

Importance Latino populations have one of the highest prevalences of type 2 diabetes worldwide.
Objectives To investigate the association between rare protein-coding genetic variants …

OBJECTIVE—Mutations in the insulin (INS) gene can cause neonatal diabetes. We
hypothesized that mutations in INS could also cause maturity-onset diabetes of the young (MODY) …

Neonatal diabetes can be either permanent or transient. We have recently shown that permanent
neonatal diabetes can result from complete deficiency of glucokinase activity. Here we …