From glucose sensing to exocytosis: takes from maturity onset diabetes of the young
S Samadli, Q Zhou, B Zheng, W Gu… - Frontiers in …, 2023 - frontiersin.org
Monogenic diabetes gave us simplified models of complex molecular processes occurring
within β-cells, which allowed to explore the roles of numerous proteins from single protein …
within β-cells, which allowed to explore the roles of numerous proteins from single protein …
Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes
S Sun, S Gong, M Li, X Wang, F Wang, X Cai, W Liu… - Endocrine, 2024 - Springer
Objective CEL-related maturity-onset diabetes of the young (CEL-MODY, MODY8) is a
special type of monogenetic diabetes caused by mutations in the carboxyl-ester lipase …
special type of monogenetic diabetes caused by mutations in the carboxyl-ester lipase …
Statistical evidence for high‐penetrance MODY‐causing genes in a large population‐based cohort
LK Billings, Z Shi, WK Resurreccion… - Endocrinology …, 2022 - Wiley Online Library
Aims Numerous genes have been proposed as causal for maturity‐onset diabetes of the
young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; …
young (MODY). Scoring systems to annotate mutation pathogenicity have been widely used; …
[HTML][HTML] Genetic perspectives on childhood monogenic diabetes: Diagnosis, management, and future directions
HY Sun, XY Lin - World Journal of Diabetes, 2023 - ncbi.nlm.nih.gov
Monogenic diabetes is caused by one or even more genetic variations, which may be
uncommon yet have a significant influence and cause diabetes at an early age. Monogenic …
uncommon yet have a significant influence and cause diabetes at an early age. Monogenic …
Prevalence and Clinical Characteristics of PDX1 Variant Induced Diabetes in Chinese Early-Onset Type 2 Diabetes
H Lian, S Gong, M Li, X Wang, F Wang… - The Journal of …, 2023 - academic.oup.com
Context Maturity-onset diabetes of the young 4 (MODY4) is caused by mutations of PDX1; its
prevalence and clinical features are not well known. Objective This study aimed to …
prevalence and clinical features are not well known. Objective This study aimed to …
Clinical and functional characterization of a novel KCNJ11 (c. 101G> A, p. R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13
Purpose This study aimed to describe the clinical features, diagnostic and therapeutic
course of a patient with MODY13 caused by KCNJ11 (c. 101G> A, p. R34H) and how it …
course of a patient with MODY13 caused by KCNJ11 (c. 101G> A, p. R34H) and how it …
Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes
Aims The objective of this study was to evaluate the associations of several genetic variants
of peroxisome proliferator-activated receptors (PPARs) on clinical and laboratory …
of peroxisome proliferator-activated receptors (PPARs) on clinical and laboratory …
Exploring the genetic basis of childhood monogenic diabetes
D Sanyal - World Journal of Diabetes, 2024 - pmc.ncbi.nlm.nih.gov
Monogenic diabetes is caused by one or even more genetic variations, which may be
uncommon yet have a significant influence and cause diabetes at an early age. Monogenic …
uncommon yet have a significant influence and cause diabetes at an early age. Monogenic …
Serum metabolomics identified metabolite biomarkers and distinguished maturity-onset diabetes of the young from type 1 diabetes in the Chinese population
J Liu, J Fu, Z **e, L Ding, D Wang, M Yu, Q Zhang… - Clinica Chimica …, 2023 - Elsevier
Background Maturity-onset diabetes of the young (MODY) patients have unique clinical
manifestations and need individualized treatments. We identified novel serum metabolic …
manifestations and need individualized treatments. We identified novel serum metabolic …
Variations In Monogenic Diabetes And Diabetes Susceptibility Genes In Pediatric Cases: Single Center Experience
Context Diabetes is a chronic disorder with a complex pathogenetic background including
monogenic, polygenic, and environmental causes. Objective The aim of the present paper is …
monogenic, polygenic, and environmental causes. Objective The aim of the present paper is …