Associated Papers
Combining genetic proxies of drug targets and time-to-event analyses from longitudinal observational data to identify target patient populations.
Zhang L et al.
Bmc Cardiovascular Disorders, 2025
The Association between PTPN22 SNPs and susceptibility to type 1 diabetes: An updated meta-analysis.
Su Y et al.
Plos One, 2025
Contributions of pharmacogenetics to personalized precision therapy of diabetes and hypercholesterolemia.
Barrera-Saldaña HA et al.
Gaceta Medica De Mexico, 2025
Population-specific putative causal variants shape quantitative traits.
Koyama S et al.
Nature Genetics, 2024
An integrative framework to prioritize genes in more than 500 loci associated with body mass index.
Hemerich D et al.
American Journal of Human Genetics, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants.
Choi J et al.
Science Advances, 2023
The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.
Ivanoshchuk D et al.
Journal of Personalized Medicine, 2023
Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.
Daggag H et al.
Metabolism Open, 2022
Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.
Valentine H et al.
Cancer Research Communications, 2022
Variants of SLC2A10 may be Linked to Poor Response to Metformin.
Paz-Pacheco E et al.
Journal of the Endocrine Society, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
The KCNJ11-E23K Gene Variant Hastens Diabetes Progression by Impairing Glucose-Induced Insulin Secretion.
Sachse G et al.
Diabetes, 2021
Progress in Defining the Genetic Contribution to Type 2 Diabetes in Individuals of East Asian Ancestry.
Spracklen CN et al.
Current Diabetes Reports, 2021
Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism.
Saint-Martin C et al.
Human Mutation, 2021
Association between ABCC8 Ala1369Ser Polymorphism (rs757110 T/G) and Type 2 Diabetes Risk in an Iranian Population: A Case-Control Study.
Bakhtiyari A et al.
Endocrine, Metabolic & Immune Disorders Drug Targets, 2021
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
Association of growth traits with a structural variation downstream of the KCNJ11 gene: a large population-based study in chickens.
Wang X et al.
British Poultry Science, 2020
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M et al.
Bmc Medical Genetics, 2020
Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.
Tatsi EB et al.
Pediatric Diabetes, 2020
Assessment of pharmacogenomic SLCO1B1 assay for prediction of neuromuscular pain in type 2 diabetes mellitus and cardiovascular patients: preliminary results.
Licito A et al.
European Review for Medical and Pharmacological Sciences, 2020
Maturity-Onset Diabetes of the Young Identified Among Algerian Probands with Early-Onset Diabetes.
Bouldjennet F et al.
Diabetes, Metabolic Syndrome and Obesity : Targets and Therapy, 2020
Gene-lifestyle interaction on risk of type 2 diabetes: A systematic review.
Dietrich S et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
Pharmacogenetics of Membrane Transporters of Tacrolimus in Solid Organ Transplantation.
Tron C et al.
Clinical Pharmacokinetics, 2019
ATP binding without hydrolysis switches sulfonylurea receptor 1 (SUR1) to outward-facing conformations that activate KATP channels.
Sikimic J et al.
The Journal of Biological Chemistry, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
Glimepiride treatment in a patient with type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.
Huang Z et al.
Journal of Diabetes Investigation, 2018
Genomic insights into the causes of type 2 diabetes.
Langenberg C et al.
Lancet (london, England), 2018
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A et al.
Nature Genetics, 2018
Prediabetes is associated with genetic variations in the gene encoding the Kir6.2 subunit of the pancreatic ATP-sensitive potassium channel (KCNJ11): A case-control study in a Han Chinese youth population.
Xu M et al.
Journal of Diabetes, 2018
Genotypic and Phenotypic Factors Influencing Drug Response in Mexican Patients With Type 2 Diabetes Mellitus.
Sanchez-Ibarra HE et al.
Frontiers in Pharmacology, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic Variation at the Sulfonylurea Receptor, Type 2 Diabetes, and Coronary Heart Disease.
Emdin CA et al.
Diabetes, 2017
KCNJ11, ABCC8 and TCF7L2 polymorphisms and the response to sulfonylurea treatment in patients with type 2 diabetes: a bioinformatics assessment.
Song J et al.
Bmc Medical Genetics, 2017
Neonatal Diabetes and the KATP Channel: From Mutation to Therapy.
Ashcroft FM et al.
Trends in Endocrinology and Metabolism: Tem, 2017
Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.
Souza SW et al.
Genetics and Molecular Research : Gmr, 2017
Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction.
Wu Y et al.
Scientific Reports, 2017
Expression and function of ATP-dependent potassium channels in zebrafish islet β-cells.
Emfinger CH et al.
Royal Society Open Science, 2017
Codon-level co-occurrences of germline variants and somatic mutations in cancer are rare but often lead to incorrect variant annotation and underestimated impact prediction.
Koire A et al.
Plos One, 2017
Association of polymorphic markers of genes FTO, KCNJ11, CDKAL1, SLC30A8, and CDKN2B with type 2 diabetes mellitus in the Russian population.
Nikitin AG et al.
Peerj, 2017
Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk.
Vedovato N et al.
Diabetologia, 2016
Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes.
Costa V et al.
International Journal of Molecular Sciences, 2016
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes.
Yang Y et al.
Endocrine Reviews, 2016