Pharmacogenomics: current status and future perspectives

M Pirmohamed - Nature Reviews Genetics, 2023 - nature.com
Inter-individual variability in drug response, be it efficacy or safety, is common and likely to
become an increasing problem globally given the growing elderly population requiring …

The metabolic basis of epilepsy

JM Rho, D Boison - Nature Reviews Neurology, 2022 - nature.com
The brain is a highly energy-demanding organ and requires bioenergetic adaptability to
balance normal activity with pathophysiological fuelling of spontaneous recurrent seizures …

[PDF][PDF] 中国2 型糖尿病防治指南(2013 年版)

翁建平 - 中华糖尿病杂志, 2014 - meditool.cn
随着经济高速发展和工业化进程的加速, 生活方式的改变和老龄化进程的加速,
使我国糖尿病的患病率正呈快速上升的趋势, 成为继心脑血管疾病, 肿瘤之后另一个严重危害 …

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) …

From pre-diabetes to diabetes: diagnosis, treatments and translational research

RMM Khan, ZJY Chua, JC Tan, Y Yang, Z Liao, Y Zhao - Medicina, 2019 - mdpi.com
Diabetes, a silent killer, is one of the most widely prevalent conditions of the present time.
According to the 2017 International Diabetes Federation (IDF) statistics, the global …

Precision medicine in diabetes: a consensus report from the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD)

WK Chung, K Erion, JC Florez, AT Hattersley… - Diabetes …, 2020 - Am Diabetes Assoc
The convergence of advances in medical science, human biology, data science, and
technology has enabled the generation of new insights into the phenotype known as …

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

A Mahajan, D Taliun, M Thurner, NR Robertson… - Nature …, 2018 - nature.com
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels …

Pancreatic β-cell electrical activity and insulin secretion: of mice and men

P Rorsman, FM Ashcroft - Physiological reviews, 2018 - journals.physiology.org
The pancreatic β-cell plays a key role in glucose homeostasis by secreting insulin, the only
hormone capable of lowering the blood glucose concentration. Impaired insulin secretion …

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 …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …