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 …
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 …
The ATP-sensitive potassium channel (KATP channel) couples blood levels of glucose to insulin secretion from pancreatic β-cells. KATP channel closure triggers a cascade of events …
C Mameli, A Scaramuzza, M Macedoni, G Marano… - …, 2021 - thelancet.com
Abstract Background The Italian Lombardy region has been the epicenter of COVID-19 since February 2020. This study analyses the epidemiology of pediatric type 1 diabetes …
HU Irgens, J Molnes, BB Johansson, M Ringdal… - Diabetologia, 2013 - Springer
Aims/hypothesis Monogenic diabetes (MD) might be misdiagnosed as type 1 diabetes. The prevalence of MD among children with apparent type 1 diabetes has not been established …
We recently reported de novo GATA6 mutations as the most common cause of pancreatic agenesis, accounting for 15 of 27 (56%) patients with insulin-treated neonatal diabetes and …
K Busiah, S Drunat, L Vaivre-Douret… - The lancet Diabetes & …, 2013 - thelancet.com
Background Neonatal diabetes mellitus is a rare genetic form of pancreatic β-cell dysfunction. We compared phenotypic features and clinical outcomes according to genetic …
OBJECTIVE Neonatal diabetes secondary to mutations in potassium-channel subunits is a rare disease but constitutes a paradigm for personalized genetics-based medicine, as …