Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

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 …

[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Dorzagliatin in drug-naïve patients with type 2 diabetes: a randomized, double-blind, placebo-controlled phase 3 trial

D Zhu, X Li, J Ma, J Zeng, S Gan, X Dong, J Yang… - Nature medicine, 2022 - nature.com
Improving glucose sensitivity remains an unmet medical need in treating type 2 diabetes
(T2D). Dorzagliatin is a dual-acting, orally bioavailable glucokinase activator that enhances …

Recognition and management of individuals with hyperglycemia because of a heterozygous glucokinase mutation

AJ Chakera, AM Steele, AL Gloyn, MH Shepherd… - Diabetes …, 2015 - Am Diabetes Assoc
Glucokinase–maturity-onset diabetes of the young (GCK-MODY), also known as MODY2, is
caused by heterozygous inactivating mutations in the GCK gene. GCK gene mutations are …

Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts

CF Wright, LN Sharp, L Jackson, A Murray, JS Ware… - Nature Genetics, 2024 - nature.com
Penetrance is the probability that an individual with a pathogenic genetic variant develops a
specific disease. Knowing the penetrance of variants for monogenic disorders is important …

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 …

Glucokinase (GCK) in diabetes: from molecular mechanisms to disease pathogenesis

Y Abu Aqel, A Alnesf, II Aigha, Z Islam… - Cellular & Molecular …, 2024 - Springer
Glucokinase (GCK), a key enzyme in glucose metabolism, plays a central role in glucose
sensing and insulin secretion in pancreatic β-cells, as well as glycogen synthesis in the liver …

How do I diagnose Maturity Onset Diabetes of the Young in my patients?

K Colclough, K Patel - Clinical endocrinology, 2022 - Wiley Online Library
Abstract Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes
diagnosed in young individuals that lack the typical features of type 1 and type 2 diabetes …

Characterizing glucokinase variant mechanisms using a multiplexed abundance assay

S Gersing, TK Schulze, M Cagiada, A Stein, FP Roth… - Genome Biology, 2024 - Springer
Amino acid substitutions can perturb protein activity in multiple ways. Understanding their
mechanistic basis may pinpoint how residues contribute to protein function. Here, we …