[HTML][HTML] Treatment options for MODY patients: a systematic review of literature

M Delvecchio, C Pastore, P Giordano - Diabetes Therapy, 2020 - Springer
Maturity-onset diabetes of the young (MODY) is an unusual form of diabetes with specific
features that distinguish it from type 1 and type 2 diabetes. There are 14 known subtypes of …

Diabetes mellitus in neonates and infants: genetic heterogeneity, clinical approach to diagnosis, and therapeutic options

O Rubio-Cabezas, S Ellard - Hormone Research in Paediatrics, 2013 - karger.com
Over the last decade, we have witnessed major advances in the understanding of the
molecular basis of neonatal and infancy-onset diabetes. It is now widely accepted that …

[HTML][HTML] The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort study

E De Franco, SE Flanagan, JAL Houghton, HL Allen… - The Lancet, 2015 - thelancet.com
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 …

Population-based assessment of a biomarker-based screening pathway to aid diagnosis of monogenic diabetes in young-onset patients

BM Shields, M Shepherd, M Hudson… - Diabetes …, 2017 - Am Diabetes Assoc
OBJECTIVE Monogenic diabetes, a young-onset form of diabetes, is often misdiagnosed as
type 1 diabetes, resulting in unnecessary treatment with insulin. A screening approach for …

KCNJ11 gene E23K variant and therapeutic response to sulfonylureas

M Javorsky, L Klimcakova, Z Schroner, J Zidzik… - European journal of …, 2012 - Elsevier
AIMS: Potassium inwardly rectifier 6.2 subunit (Kir6. 2) of the ATP-sensitive potassium
(KATP) channel encoded by KCNJ11 gene is a therapeutical target for sulfonylureas …

Frequency and Characteristics of MODY 1 (HNF4A Mutation) and MODY 5 (HNF1B Mutation): Analysis From the DPV Database

K Warncke, S Kummer, K Raile… - The Journal of …, 2019 - academic.oup.com
Objective To characterize the initial presentation and clinical course of patients with
hepatocyte nuclear factor (HNF) 4A‒and HNF1B‒MODY in a multinational registry. Design …

[HTML][HTML] Role of actionable genes in pursuing a true approach of precision medicine in monogenic diabetes

A Marucci, I Rutigliano, G Fini, S Pezzilli, C Menzaghi… - Genes, 2022 - mdpi.com
Monogenic diabetes is a genetic disorder caused by one or more variations in a single
gene. It encompasses a broad spectrum of heterogeneous conditions, including neonatal …

Clinical presentation and long‐term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria

K Warncke, A Eckert, T Kapellen, S Kummer… - Pediatric …, 2022 - Wiley Online Library
Objective To describe clinical presentation/longterm outcomes of patients with
ABCC8/KCNJ11 variants in a large cohort of patients with diabetes. Research Design and …

[HTML][HTML] Insights into the genetics and signaling pathways in maturity-onset diabetes of the young

M Sousa, T Rego, JB Armas - International Journal of Molecular Sciences, 2022 - mdpi.com
Diabetes Mellitus (DM) is a complex disease with a significant impact in today's world.
Studies have emphasized the crucial role of genetics in DM, unraveling the distinction of …

[HTML][HTML] Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes

YA Nasykhova, YA Barbitoff… - World journal of …, 2019 - ncbi.nlm.nih.gov
Abstract Type 2 diabetes (T2D) mellitus is a common complex disease that currently affects
more than 400 million people worldwide and has become a global health problem. High …