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] Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: a narrative review.

KA Alam, P Svalastoga, A Martinez, JC Glennon… - Neuroscience & …, 2023 - Elsevier
Abstract Potassium channels (K+-channels) selectively control the passive flow of potassium
ions across biological membranes and thereby also regulate membrane excitability. Genetic …

Discovery and prioritization of variants and genes for kidney function in> 1.2 million individuals

KJ Stanzick, Y Li, P Schlosser, M Gorski… - Nature …, 2021 - nature.com
Genes underneath signals from genome-wide association studies (GWAS) for kidney
function are promising targets for functional studies, but prioritizing variants and genes is …

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 …

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 …

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 …

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 …

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 …

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 …

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 …