Associated Papers
Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families.
Wawszczak-Kasza M et al.
International Journal of Molecular Sciences, 2025
Excess of rare noncoding variants in several type 2 diabetes candidate genes among Asian Indian families.
Rout M et al.
Communications Medicine, 2025
Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.
Ba T et al.
Clinical Endocrinology, 2024
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Determinants of trafficking, conduction, and disease within a K+ channel revealed through multiparametric deep mutational scanning.
Coyote-Maestas W et al.
Elife, 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
Whole exome sequencing reveals novel candidate gene variants for MODY.
Yalçın Çapan Ö et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift.
Ahmed DM et al.
Laboratory Medicine, 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
ATP-dependent potassium channels and type 2 diabetes mellitus.
Bonfanti DH et al.
Clinical Biochemistry, 2015
Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.
Phani NM et al.
Plos One, 2014
Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.
Fedele F et al.
Basic Research in Cardiology, 2013
Pharmacogenetics of oral antidiabetic drugs.
Becker ML et al.
International Journal of Endocrinology, 2013
Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population.
Gonen MS et al.
Archives of Medical Research, 2012
KCNJ11 gene E23K variant and therapeutic response to sulfonylureas.
Javorsky M et al.
European Journal of Internal Medicine, 2012
Sequencing genes in silico using single nucleotide polymorphisms.
Zhang XC et al.
Bmc Genetics, 2012
Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.
Yang L et al.
Molecular Biology Reports, 2012
Sulfonylurea pharmacogenomics in Type 2 diabetes: the influence of drug target and diabetes risk polymorphisms.
Aquilante CL
Expert Review of Cardiovascular Therapy, 2010
Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
Biagiotti L et al.
Experimental and Molecular Pathology, 2007
Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population.
Koo BK et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2007
KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
Gloyn AL et al.
European Journal of Human Genetics : Ejhg, 2006
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.
Hussain K et al.
Pediatric Diabetes, 2005
Current status of the E23K Kir6.2 polymorphism: implications for type-2 diabetes.
Riedel MJ et al.
Human Genetics, 2005
Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
Edghill EL et al.
Diabetes, 2004
Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.
Florez JC et al.
Diabetes, 2004
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Gloyn AL et al.
The New England Journal of Medicine, 2004
KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction.
Jeron A et al.
Journal of Molecular and Cellular Cardiology, 2004
Diabetes and insulin secretion: whither KATP?
Nichols CG et al.
American Journal of Physiology. Endocrinology and Metabolism, 2002
Missense mutations in the pancreatic islet beta cell inwardly rectifying K+ channel gene (KIR6.2/BIR): a meta-analysis suggests a role in the polygenic basis of Type II diabetes mellitus in Caucasians.
Hani EH et al.
Diabetologia, 1998
A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
Nestorowicz A et al.
Diabetes, 1997
Sequence variants in the pancreatic islet beta-cell inwardly rectifying K+ channel Kir6.2 (Bir) gene: identification and lack of role in Caucasian patients with NIDDM.
Inoue H et al.
Diabetes, 1997
Amino acid polymorphisms in the ATP-regulatable inward rectifier Kir6.2 and their relationships to glucose- and tolbutamide-induced insulin secretion, the insulin sensitivity index, and NIDDM.
Hansen L et al.
Diabetes, 1997
Sequence variations in the human Kir6.2 gene, a subunit of the beta-cell ATP-sensitive K-channel: no association with NIDDM in while Caucasian subjects or evidence of abnormal function when expressed in vitro.
Sakura H et al.
Diabetologia, 1996
Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.
Verduin M et al.
Neuro-oncology Advances, 0