[HTML][HTML] 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] The epidemiology, molecular pathogenesis, diagnosis, and treatment of maturity-onset diabetes of the young (MODY)

KM Nkonge, DK Nkonge, TN Nkonge - Clinical Diabetes and …, 2020 - Springer
Background The most common type of monogenic diabetes is maturity-onset diabetes of the
young (MODY), a clinically and genetically heterogeneous group of endocrine disorders that …

[HTML][HTML] Single cell multiomic analysis reveals diabetes-associated β-cell heterogeneity driven by HNF1A

C Weng, A Gu, S Zhang, L Lu, L Ke, P Gao… - Nature …, 2023 - nature.com
Broad heterogeneity in pancreatic β-cell function and morphology has been widely reported.
However, determining which components of this cellular heterogeneity serve a diabetes …

The human islet: mini-organ with mega-impact

JT Walker, DC Saunders, M Brissova… - Endocrine …, 2021 - academic.oup.com
This review focuses on the human pancreatic islet—including its structure, cell composition,
development, function, and dysfunction. After providing a historical timeline of key …

[HTML][HTML] Use of human islets to understand islet biology and diabetes: progress, challenges and suggestions

NJ Hart, AC Powers - Diabetologia, 2019 - Springer
Over the last two decades, improved access to human islets and the development of human
islet distribution networks have enabled the use of millions of human islets in hundreds of …

[HTML][HTML] HNF1A mutations and beta cell dysfunction in diabetes

Y Miyachi, T Miyazawa, Y Ogawa - International journal of molecular …, 2022 - mdpi.com
Understanding the genetic factors of diabetes is essential for addressing the global increase
in type 2 diabetes. HNF1A mutations cause a monogenic form of diabetes called maturity …

[HTML][HTML] HNF1A: From Monogenic Diabetes to Type 2 Diabetes and Gestational Diabetes Mellitus

LM Li, BG Jiang, LL Sun - Frontiers in Endocrinology, 2022 - frontiersin.org
Diabetes, a disease characterized by hyperglycemia, has a serious impact on the lives and
families of patients as well as on society. Diabetes is a group of highly heterogeneous …

[HTML][HTML] New approaches to screening and management of neonatal hypoglycemia based on improved understanding of the molecular mechanism of hypoglycemia

CA Stanley, PS Thornton, DD De Leon - Frontiers in pediatrics, 2023 - frontiersin.org
For the past 70 years, controversy about hypoglycemia in newborn infants has focused on a
numerical “definition of neonatal hypoglycemia”, without regard to its mechanism. This …

[HTML][HTML] Decreased GLUT2 and glucose uptake contribute to insulin secretion defects in MODY3/HNF1A hiPSC-derived mutant β cells

BSJ Low, CS Lim, SSL Ding, YS Tan, NHJ Ng… - Nature …, 2021 - nature.com
Heterozygous HNF1A gene mutations can cause maturity onset diabetes of the young 3
(MODY3), characterized by insulin secretion defects. However, specific mechanisms of …

[HTML][HTML] Normal and defective pathways in biogenesis and maintenance of the insulin storage pool

M Liu, Y Huang, X Xu, X Li, M Alam… - The Journal of …, 2021 - Am Soc Clin Investig
Both basal and glucose-stimulated insulin release occur primarily by insulin secretory
granule exocytosis from pancreatic β cells, and both are needed to maintain normoglycemia …