Genetics of monogenic diabetes: present clinical challenges

S Misra, KR Owen - Current diabetes reports, 2018 - Springer
Abstract Purpose of Review Monogenic forms of diabetes have specific treatments that differ
from the standard care provided for type 1 and type 2 diabetes, making the appropriate …

Many faces of monogenic diabetes

VM Schwitzgebel - Journal of diabetes investigation, 2014 - Wiley Online Library
Monogenic diabetes represents a heterogeneous group of disorders resulting from defects
in single genes. Defects are categorized primarily into two groups: disruption of β‐cell …

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

G Alkorta-Aranburu, D Carmody, YW Cheng… - Molecular genetics and …, 2014 - Elsevier
Single gene mutations that primarily affect pancreatic β-cell function account for
approximately 1–2% of all cases of diabetes. Overlapping clinical features with common …

Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum

MC Riddle, LH Philipson, SS Rich, A Carlsson… - Diabetes …, 2020 - Am Diabetes Assoc
Individualization of therapy based on a person's specific type of diabetes is one key element
of a “precision medicine” approach to diabetes care. However, applying such an approach …

Monogenic diabetes: a gateway to precision medicine in diabetes

H Zhang, K Colclough, AL Gloyn… - The Journal of clinical …, 2021 - Am Soc Clin Investig
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 …

Diagnosis of monogenic diabetes: 10‐Year experience in a large multi‐ethnic diabetes center

ERA Thomas, A Brackenridge, J Kidd… - Journal of diabetes …, 2016 - Wiley Online Library
Abstract Aims/Introduction Monogenic diabetes accounts for approximately 1–2% of all
diabetes, and is difficult to distinguish from type 1 and type 2 diabetes. Molecular diagnosis …

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

S Ellard, H Lango Allen, E De Franco, SE Flanagan… - Diabetologia, 2013 - Springer
Aims/hypothesis Current genetic tests for diagnosing monogenic diabetes rely on selection
of the appropriate gene for analysis according to the patient's phenotype. Next-generation …

The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis

M Vaxillaire, A Bonnefond, P Froguel - Best practice & research Clinical …, 2012 - Elsevier
Monogenic diabetes consists of different subtypes of single gene disorders comprising a
large spectrum of phenotypes, namely neonatal diabetes mellitus or monogenic diabetes of …

Molecular diagnostics in monogenic and multifactorial forms of type 2 diabetes

MI McCarthy, AT Hattersley - Expert review of molecular …, 2001 - Taylor & Francis
Type 2 diabetes represents a major and increasing contributor to morbidity and mortality
worldwide. Of the world′ s population, 10% either have Type 2 diabetes, or will develop it …

The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion

R Murphy, K Colclough, TI Pollin, JM Ikle… - Communications …, 2023 - nature.com
Background Monogenic diabetes presents opportunities for precision medicine but is
underdiagnosed. This review systematically assessed the evidence for (1) clinical criteria …