Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare
monogenic primary immunodeficiency (PID) due to mutations of FOXP3, a key transcription …

The elucidation of several genetic etiologies of both monogenic and polygenic type 2
diabetes (T2D) has revealed several key regulators of glucose homeostasis and insulin …

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Human diseases are caused by alleles that encompass the full range of variant types, from
single-nucleotide changes to copy-number variants, and these variations span a broad …

OBJECTIVE NEUROG3 plays a central role in the development of both pancreatic islets and
enteroendocrine cells. Homozygous hypomorphic missense mutations in NEUROG3 have …

Neonatal diabetes mellitus (NDM) is the term commonly used to describe diabetes with
onset before 6 months‐of‐age. It occurs in approximately one out of every 100,000–300,000 …

Review on monogenic diabetes : Current Opinion in Endocrinology, Diabetes and Obesity
Review on monogenic diabetes : Current Opinion in Endocrinology, Diabetes and Obesity Log …

The ATP-sensitive potassium (K ATP) channel is composed of two subunits SUR1 and Kir6.
2. The channel is key for glucose stimulated insulin release from the pancreatic beta cell …

Permanent neonatal diabetes mellitus (PNDM) is diagnosed within the first 6 months of life,
and is usually monogenic in origin. Heterozygous mutations in ABCC 8, KCNJ 11, and INS …

Recently, missense mutations upstream of preproinsulin's signal peptide (SP) cleavage site
were reported to cause mutant INS gene-induced diabetes of youth (MIDY). Our objective …