The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Ptf1a function and transcriptional cis‐regulation, a cornerstone in vertebrate pancreas development

M Duque, JP Amorim, J Bessa - The FEBS journal, 2022 - Wiley Online Library
Vertebrate pancreas organogenesis is a stepwise process regulated by a complex network
of signaling and transcriptional events, progressively steering the early endoderm toward …

Pancreas agenesis mutations disrupt a lead enhancer controlling a developmental enhancer cluster

I Miguel-Escalada, MA Maestro, D Balboa, A Elek… - Developmental cell, 2022 - cell.com
Sequence variants in cis-acting enhancers are important for polygenic disease, but their role
in Mendelian disease is poorly understood. Redundancy between enhancers that regulate …

Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers

R Bordeira-Carriço, J Teixeira, M Duque… - Nature …, 2022 - nature.com
The pancreas is a central organ for human diseases. Most alleles uncovered by genome-
wide association studies of pancreatic dysfunction traits overlap with non-coding sequences …

Molecular mechanisms of β-cell dysfunction and death in monogenic forms of diabetes

LS Caballero, V Gorgogietas, MN Arroyo… - International Review of …, 2021 - Elsevier
Monogenetic forms of diabetes represent 1%–5% of all diabetes cases and are caused by
mutations in a single gene. These mutations, that affect genes involved in pancreatic β-cell …

Neonatal diabetes caused by disrupted pancreatic and β‐cell development

E De Franco - Diabetic Medicine, 2021 - Wiley Online Library
Neonatal diabetes is diagnosed before the age of 6 months and is usually caused by single‐
gene mutations. More than 30 genetic causes of neonatal diabetes have been described to …

Neonatal diabetes mellitus around the world: Update 2024

F Barbetti, A Deeb, S Suzuki - Journal of Diabetes Investigation, 2024 - Wiley Online Library
Neonatal diabetes mellitus (NDM), defined as diabetes with an onset during the first 6
months of life, is a rare form of monogenic diabetes. The initial publications on this condition …

Classification of neonatal diabetes

E De Franco, MB Johnson - Neonatal and Early Onset Diabetes Mellitus …, 2023 - Springer
Abstract Neonatal Diabetes Mellitus (NDM) is diagnosed in the first 6 months of life and is
most likely to have a monogenic cause rather than being polygenic type 1 diabetes. Before …

Growth and development in monogenic forms of neonatal diabetes

B Hammoud, SAW Greeley - Current Opinion in Endocrinology …, 2022 - journals.lww.com
Monogenic causes of neonatal diabetes are characterized by variable degree of restriction
of growth in utero because of deficiency of insulin that depends on the specific gene cause …

Pathogenesis (of Neonatal Diabetes and Early Onset Diabetes)

F Barbetti, N Rapini, S Cianfarani - Neonatal and Early Onset Diabetes …, 2023 - Springer
Neonatal diabetes mellitus (NDM) is a rare form of diabetes with onset in the first 6 months of
life. NDM is genetically heterogeneous, involving more than 40 loci most of which cause non …