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

Our understanding of diabetes mellitus has benefited from a combination of clinical
investigations and work in model organisms and cell lines. Organoid models for a wide …

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 …

Aberrant glucose homeostasis is the most common metabolic disturbance affecting one in
ten adults worldwide. Prediabetic hyperglycemia due to dysfunctional interactions between …

In a patient with permanent neonatal syndromic diabetes clinically similar to cases with
ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of …

Cell type specification during pancreatic development is tightly controlled by a
transcriptional and epigenetic network. The precise role of most transcription factors …

Functional enhancer annotation is critical for understanding tissue-specific transcriptional
regulation and prioritizing disease-associated non-coding variants. However, unbiased …

Trace amine-associated receptors (TAARs), which were discovered only in 2001, are known
to be involved in the regulation of a spectrum of neuronal processes and may play a role in …

Insulin expression is primarily restricted to the pancreatic β cells, which are physically or
functionally depleted in diabetes. Identifying targetable pathways repressing insulin in non-β …

Purpose Pediatric cholestasis is the phenotypic expression of clinically and genetically
heterogeneous disorders of bile acid synthesis and flow. Although a growing number of …