Abstract The UK Biobank Exome Sequencing Consortium (UKB-ESC) is a private–public
partnership between the UK Biobank (UKB) and eight biopharmaceutical companies that …

Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

The year 2021 marks the centennial of Banting and Best's landmark description of the
discovery of insulin. This discovery and insulin's rapid clinical deployment effectively …

Diabetes mellitus has become a serious and chronic metabolic disorder that results from a
complex interaction of genetic and environmental factors, principally characterized by …

The endoplasmic reticulum (ER) is a membranous intracellular organelle and the first
compartment of the secretory pathway. As such, the ER contributes to the production and …

Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

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 …

Numerous genetic and environmental insults impede the ability of cells to properly fold and
posttranslationally modify secretory and transmembrane proteins in the endoplasmic …

Diabetes is a major global problem. During the past decade, the genetic basis of various
monogenic forms of the disease, and their underlying molecular mechanisms, have been …