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 …

Most human genes have multiple sites at which RNA 3ʹ end cleavage and polyadenylation
can occur, enabling the expression of distinct transcript isoforms under different conditions …

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 …

Genome-wide association studies have identified thousands of noncoding variants
associated with human traits and diseases. However, the functional interpretation of these …

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 …

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 …

Maria E Craiga, b, Craig Jefferiesc, Dana Dabelead, Naby Baldee, Anju Sethf and Kim C
Donaghuea aInstitute of Endocrinology and Diabetes, The Children's Hospital at Westmead …

Background Traditional genetic testing focusses on analysis of one or a few genes
according to clinical features; this approach is changing as improved sequencing methods …