Monogenic diabetes in children and adolescents: recognition and treatment options

M Sanyoura, LH Philipson, R Naylor - Current diabetes reports, 2018 - Springer
Abstract Purpose of Review We provide a review of monogenic diabetes in young children
and adolescents with a focus on recognition, management, and pharmacological treatment …

Novel insights into genetics and clinics of the HNF1A-MODY

T Valkovicova, M Skopkova, J Stanik… - Endocrine …, 2019 - sciendo.com
MODY (Maturity Onset Diabetes of the Young) is a type of diabetes resulting from a
pathogenic effect of gene mutations. Up to date, 13 MODY genes are known. Gene HNF1A …

Pathogenic variants in actionable MODY genes are associated with type 2 diabetes

A Bonnefond, M Boissel, A Bolze, E Durand… - Nature …, 2020 - nature.com
Genome-wide association studies have identified 240 independent loci associated with type
2 diabetes (T2D) risk, but this knowledge has not advanced precision medicine. In contrast …

Precision medicine in diabetes prevention, classification and management

F Xie, JCN Chan, RCW Ma - Journal of diabetes investigation, 2018 - Wiley Online Library
Diabetes has become a major burden of healthcare expenditure. Diabetes management
following a uniform treatment algorithm is often associated with progressive treatment failure …

MODY probability calculator utility in individuals' selection for genetic testing: Its accuracy and performance

T da Silva Santos, L Fonseca… - Endocrinology …, 2022 - Wiley Online Library
Introduction MODY probability calculator (MPC) represents an easy‐to‐use tool developed
by Exeter University to help clinicians prioritize which individuals should be oriented to …

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 …

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 …

Not quite type 1 or type 2, what now? Review of monogenic, mitochondrial, and syndromic diabetes

RO Yeung, F Hannah-Shmouni, K Niederhoffer… - Reviews in Endocrine …, 2018 - Springer
Diabetes mellitus is a heterogeneous group of conditions defined by resultant chronic
hyperglycemia. Given the increasing prevalence of diabetes mellitus and the increasing …

COL4A3 gene variants and diabetic kidney disease in MODY

Y Wang, J Zhang, Y Zhao, S Wang… - Clinical Journal of the …, 2018 - journals.lww.com
Results HNF1B-MODY, CEL-MODY, PAX4-MODY, and WFS1-MODY were diagnosed
among nine families. We identified 196 selected variants of 25 DKD susceptibility genes …

Neonatal diabetes due to potassium channel mutation: response to sulfonylurea according to the genotype

L Garcin, V Mericq, AL Fauret‐Amsellem… - Pediatric …, 2020 - Wiley Online Library
Objective A precision medicine approach is used to improve treatment of patients with
monogenic diabetes. Herein, we searched SU efficiency according to the genotype …