Property Summary

NCBI Gene PubMed Count 330
PubMed Score 1689.14
PubTator Score 774.13

Knowledge Summary

Patent (24,095)

TINX Plot

  Disease (8)

Disease Target Count Z-score Confidence
Type 2 diabetes mellitus 192 0.0 2.0
Disease Target Count Z-score Confidence
Hyperinsulinemic hypoglycemia 17 5.409 2.7
Disease Target Count Z-score Confidence
diabetes mellitus 1663 5.63 2.8

Expression

 GWAS Trait (1)

Gene RIF (325)

PMID Text
26841550 Polymorphism rs5219 of KCNJ11 gene is associated with type 2 diabetes.
26590798 This studypredict response ketogenic dietary therapies. showed that Common variants in KCNJ11 and BAD do not response to ketogenic diety therapy.
26448950 KCNJ11 genetic variants may have a role in the development of diabetes mellitus [review]
25955821 These calculations identified causal genetic variation within the ABCC8/KCNJ11 region for type 2 diabetes mellitus.
25931017 The hORs were coupled to the Kir6.2 potassium channel for simple odorant detection.
25916116 genotypes of the polymorphic markers of KCNJ11, SLC30A8 and CDKN2B genes showed the presence of association with T2DM in Russian population, while for the FTO gene was not found statistically significant associations with type 2 diabetes
25877689 We performed a retrospective cohort study using data on 58 individuals with neonatal diabetes due to KCNJ11 mutations
25781672 Mutations in KCNJ11 are associated with neonatal diabetes mellitus.
25765446 study investigated mutations in the KATP channel genes, allelic copy number and imprinting status at 11p15 in patients with congenital hyperinsulinism (CHI); found epigenetic alteration at the 11p15 region plays a central role in developing focal CHI by paternally derived mutations of the KATP channel and maternal allelic loss at this region
25725792 A190A-TT or E23K-GG of the KCNJ11 in carriers had higher systolic blood pressure (SBP) than CC or AA carriers in the non-diabetic control and T2DM groups (both p < 0.05).
25678012 The KCNJ11 gene encodes for the Kir6.2 subunit of the ATP-sensitive potassium channel in the pancreatic beta cell; thus, mutations in this gene cause impaired insulin secretion.
25573672 KCNJ11 SNP was associated with diabetic retinopathy in Chinese Han patients with T2DM.
25456640 Mutations in KCNJ11 can cause Transient or Permanent Neonatal Diabetes Mellitus. Diabetes secondary to mutations in KCNJ11 often responds to sulfonylureas.
25249341 mitochondrial ATP-sensitive potassium channels (mtK(ATP) channels) are overexpressed in glioma cells and are closely related to the malignancy grade and the overall survival of the patients.
25247988 Case control study and meta-analysis show that KCNJ11 rs5219 gene polymorphism as an independent risk factor for type 2 diabetes is influenced by the ethnicity of the population.
25201519 Paternally inherited heterozygous ABCC8/KCNJ11 mutations can manifest as a wide spectrum of congenital hyperinsulinism.
25165692 Both case-control and meta-analyses results revealed the significant association between the E23K variant of KCNJ11 and Type 2 diabetes among Tunisians and Arabs.
25115353 The KCNJ11 E23K variant is associated with a greater effect of sulphonylurea treatment.
25008049 Paternally inherited monoallelic mutations of ABCC8 and KCNJ11 are likely the main causes of KATP-congenital hyperinsulinism in Chinese patients.
24996284 Polymorphisms in KCNJ11 might predispose the patients treated by tacrolimus to development of NODAT (new-onset diabetes after transplantation) after liver transplantation.
24898818 Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population.[meta-analysis]
24855163 KCNJ11 mutation is associated with iDEND syndrome.
24710510 a modest but statistically significant effect of KCNJ11 23K allele of rs5219 polymorphism in susceptibility to type 2 diabetes(Meta-Analysis)
24698822 The patient with KCNJ11 G366W mutation suffered only type 1B diabetes, without neurological developmental abnormalities
24686051 This is the largest study to report genotype-phenotype correlations among Turkish patients with congenital hyperinsulinism(CHI). Mutations in ABCC8 and KCNJ11 are the commonest causes of CHI in Turkish patients (48.6%).
24582665 Transgenic mice with selective neuronal expression of the activating Kir6.2-V59M mutation display a reduced anxiety phenotype and an increased exploratory behavior, suggesting that the neuronal KATP channel is involved in the regulation of emotion
24558086 Efficacy of glibenclamide and sitagliptin therapy in adult patients with KCNJ11 permanent diabetes.
24485399 KCNJ11 rs5219 Polymorphism is associated with Diabetes Mellitus, Type 2.
24468099 We identified a novel missense heterogeneous mutation in the KCNJ11 gene at codon 167 (aTC-->tTC) in a region that corresponds to a predicted intracellular gate of the ATP-sensitive potassium channel.
24460047 The KCNJ11 E23K polymorphism is not associated with genetic susceptibility to type 2 diabetes in the Iranian population; however, it may play a role in disease progression in the presence of obesity.
24442125 All patients were genotyped for CYP2C9, KCNJ11 and ABCC8.
24434300 Mutations in ABCC8 and KCNJ11 are common causes of CHI in Chinese patients. Mutation analysis showed more novel and monoallele mutations in KATP genes.
24429282 PIP2 affects islet beta-cell KATP channels not only by its actions on Kir6.2 but also by sequestering Syn-1A to modulate Syn-1A availability and its interactions with SUR1 on PM.
24421282 This study expands the phenotype associated with KCNJ11 loss of function in humans and calls for increased awareness of rhabdomyolysis as a potential late-onset life-threatening complication of KCNJ11-related congenital hyperinsulinism.
24401662 Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
24332549 Results reveal the risk of type 2 diabetes conferred by KCNJ11 E23K gene variant in the Mauritanian population.
24265373 a novel response to oral SU therapy in a patient with a KCNJ11 mutation that has been previously been reported to be resistant to transition from insulin therapy.
24241377 The KCNJ11 E23K variant was associated with lower insulin secretion during OGTT both in non-diabetic patients with ADPKD carrying either 1 or 2 K alleles and in non-ADPKD controls homozygous for K.
24222218 The Kir6.2 E23K polymorphism in dilated cardiomyopathy patients of Han ethnicity may increase the risk of negative outcomes such as congestive heart failure.
24065655 Forty-one case-control association studies of KCNJ11 and ABCC8 polymorphisms with type 2 diabetes, including 61,879 subjects, were identified and used in our meta-analysis
24018988 KCNJ11 mutations in familial early-onset type 2 diabetes mellitus may help in understanding the molecular aetiology and in providing more personalised treatment for these specific forms of diabetes in Chinese and other Asian patients.
23667671 These results demonstrate that both the mis-sense mutation and the deleted region in the Kir6.2 subunit are important for control of the intrinsic channel gating.
23652837 We detected a novel missense homozygous mutation in the unique exon of the KCNJ11 gene (A174V) of a patient with congenital hyperinsulinism of infancy
23626843 Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
23434183 R201H mutation in the KCNJ11 gene showed successful switches from insulin to sulfonylurea. Here, we report an unsuccessful switch in an 18-year-old patient carrying the common R201H mutation in the KCNJ11 gene.
23412854 The higher birth weight in small for gestational age children with the E23K variant may be related to higher insulin concentrations in the fetal period.
23362136 information was prospectively collected on 27 SGA neonates with Hyperinsulinaemic hyperclyceic, followed by sequencing of KCNJ11 and ....
23054005 The KCNJ11 E23K gene polymorphism is associated with T2D risk in the Chinese Han population.
23050777 genetic association study in 6 populations of diabetic youth in United States: Data suggest that permanent neonatal diabetes mellitus is associated with mutations in KCNJ11 (2 subjects; G53D, R201C) or insulin (G32C, 1 subject; R89C, 2 subjects).
22957706 We identified one mutation in the KCNJ11 gene (H46R) in one Japanese child with IDDM.
22815030 analysis of KCNJ11 and ABCC8 gene mutation in neonatal Diabetes Mellitus patients treated wtih sulphonylurea monotherapy [case reports]
22768671 KCNJ11 mutation is associated with permanent neonatal diabetes mellitus.
22704848 The KCNJ11 E23K heterozygote genotype decreases insulin secretion in a Turkish population.
22701567 Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
22648966 Kir6.2 mutations that affect residues harboring various amino acid substitutions are found in neonatal diabetes.
22591706 KCNJ11 E23K polymorphism is not associated with increased risk of mild hypoglycemia in sulfonylurea-treated T2DM patients.
22573428 Although a rather small sample size constituted a limitation of this study, the association of the E23K polymorphism with type 1 diabetes was not statistically significant in the Korean population evaluated
22512215 We identified novel missense mutations in subject groups including A94P and R369C in a NIDDM Indo-Trinidadian subject, S113G in a non-diabetic Indo-Trinidadian subject, and S118L in a NIDDM Afro-Trinidadian subject.
22471336 We found that three members of a family with highly variable age of onset of insulin-treated diabetes, all carried the E227K mutation in KCNJ11
22443257 None of the 12 SNPs in the six genes (KCNJ11, TCF7L2, SLC30A8, HHEX, FTO and CDKAL1) uncovered in the genome-wide association studies were associated with polycystic ovary syndrome.
22360462 H(2)S protects DA neurons against degeneration in a UCP2 rather than Kir6.2/K-ATP channel-dependent mechanism, which will give us an insight into the potential of H(2)S in terms of opening up new therapeutic avenues for PD.
22308858 As a result of failure to medical therapy, patients with recessive K(ATP) channel mutations underwent a near total pancreatectomy; two siblings with a novel dominant mutation showed good response to medical treatment.
22264780 study found a significant association between a common KCNJ11 SNP and the risk of developing new-onset diabetes after transplantation among heart and kidney transplanted patients treated with tacrolimus
22163043 the KCNJ11 E23K variant has a role in glycaemic progression in Chinese, with its effect being more evident in the early stage of T2DM, as the subjects progressed from normal glucose tolerance to prediabetes
22133355 post-transcriptional events determine Kir6.2 protein expression in the left ventricle of patients with severe mitral dysfunction and low venous PO(2)
22082043 KCNJ11 polymorphism is associated with type 2 diabetes.
21981029 mutations in KCNJ11 or ABCC8 genes were identified in 197 patients diagnosed with diabetes before 6 months (48.6%), 3 infants diagnosed between 6 and 9 months (4.2%) and none diagnosed after 9 months; K(ATP) channel mutations are an uncommon cause of diabetes in infants presenting after 6 months
21871684 Brief Report: 18-month follow-up of switching from insulin to sulfonylurea in a mother and daughter both carrying KCNJ11 gene activating mutation for permanent neonatal diabetes mellitus.
21820692 Osteogenic differentiation strongly up-regulated Kir6.2 mRNA whereas Kir6.1 showed no significant change in expression.
21765448 Four common A190A, E23K, I337V and 3'UTR +62 G/A polymorphisms were found in KCNJ11.
21710463 findings provided evidence that the KCNJ11 gene plays a role in the pathogenesis of decreased insulin sensitivity in essential hypertension patients
21682153 identified presence of the de nova V59M and E322K activating mutations in the KCNJ11 gene in two children with neonatal diabetes mellitus
21674179 The phenotype associated with dominant ABCC8/KCNJ11 mutations ranges from asymptomatic macrosomia to persistent hyperinsulinaemic hypoglycaemia in childhood.
21573802 Meta-analysis verified that single nucleotide polymorphisms of KCNJ11 gene are significantly associated with the risk of type 2 diabetes mellitus in East Asian populations.
21544516 Data ound mutations in KCNJ11, INS and ABCC8 and GCK genes in permanent diabetes mellitus with onset in the first 12 months of age.
21540348 A novel heterozygous mutation, W68R, is found in the Kir6.2 subunit of the ATP-sensitive potassium (KATP) channel, in a patient with transient neonatal diabetes.
21422196 Mutations in ABCC8 and KCNJ11 are the most common causes of congenital hyperinsulinism in Korean patients
21418633 Down-regulation of Kir6.1 and Kir6.2 expression in myometrium may contribute to the enhanced uterine contractility associated with the onset of labour.
21378087 Novel mutations in KCNJ11 are found in 32% of children with congenital hyperinsulism.
21352428 genetic basis of two Cypriot patients who developed diabetes before 6 months of age; both carried mutations of the KCNJ11 gene -one the R201H mutation and the other the R50Q mutation
20980454 mutation V290M in the pore-forming Kir6.2 subunit was identified in patients with congenital hyperinsulinism
20929593 Observational study of gene-disease association. (HuGE Navigator)
20923526 Meta-analysis and uncategorized study of gene-disease association. (HuGE Navigator)
20922570 Mutations in the K(ATP) channel which result in permanent neonatal diabetes.
20879858 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20863361 Observational study of gene-disease association. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20802253 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20685672 Data show that ABCC8 or KCNJ11 defects were found in 82% of the CHI cases.
20682687 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20616309 Observational study of gene-disease association. (HuGE Navigator)
20597906 Observational study of gene-disease association. (HuGE Navigator)
20595581 in mice with human Kir6.2 mutation targeted to either muscle or nerve, data show motor impairment originates in central nervous system rather than muscle or peripheral nerves;identifed motor hyperactivity as a feature of KATP channel overactivity
20571754 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20550665 Observational study of gene-disease association. (HuGE Navigator)
20540670 Observational study of gene-disease association. (HuGE Navigator)
20540435 every person diagnosed with diabetes before six months of life should be tested for KCNJ11 K(ATP) mutations
20503258 Observational study of gene-disease association. (HuGE Navigator)
20490451 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20437825 Observational study of gene-disease association. (HuGE Navigator)
20431170 TND has been shown to be genetically heretogenous and mutations in KCNJ11 have been shown to be associated with it. This is the first report from India describing TND due to E227K missense mutation in KCNJ11 gene
20424228 Observational study of gene-disease association. (HuGE Navigator)
20401705 KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.
20384434 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20361036 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20215779 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20203524 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20164212 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20161779 Observational study of gene-disease association. (HuGE Navigator)
20079163 Study replicated the association of rs5219 in KCNJ11 with type 2 diabetes in Chinese Han population in Beijing.
20079163 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20075150 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
20054294 The polymorphism KCNJ11 Lys23Glu is associated with a heightened risk of developing type 2 diabetes mellitus in a Chinese Han population.
20054294 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20043145 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20036918 Osteoblast-like cells might contain mitoKATP channels in which Kir6.2 is the pore-forming subunit, though in extremely low abundance.
19921246 tight metabolic regulation of K(ATP) (Kir6.2) activity in the pancreatic beta-cell is critical in normal excitation-secretion coupling such that abnormally elevated KATP currents suppress normal insulin release[review]
19913121 Observational study of gene-disease association. (HuGE Navigator)
19876004 Observational study of gene-disease association. (HuGE Navigator)
19862325 there is an association between PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 and type 2 diabetes in the Chinese population
19862325 Observational study of gene-disease association. (HuGE Navigator)
19808892 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19794065 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19766903 Observational study of gene-disease association. (HuGE Navigator)
19720844 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19692135 A patient diagnosed at the age of 12 weeks that showed islet cell antibodies at diagnosis, but not with positive result for KCNJ11 mutation.
19685080 Blunted heart rate response during exercise is a risk factor for mortality in patients with heart failure, establishing the clinical relevance of Kir6.2 E23K as a biomarker for impaired stress performance
19685080 Observational study of gene-disease association. (HuGE Navigator)
19602701 Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
19592620 Observational study of gene-disease association. (HuGE Navigator)
19587354 Rare activating mutations cause neonatal diabetes, whereas the common variants, E23K in KCNJ11 and S1369A in ABCC8, are in strong linkage disequilibrium, constituting a haplotype that predisposes to type 2 diabetes
19578796 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19502414 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19498446 The common E23K variant of KCNJ11 is considered as a strong candidate for type 2 diabetes susceptibility across different ethnicities.
19498446 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19491206 An amino acid substitution variant leads to overactivity of the K(ATP) channel, resulting in reduced insulin secretion and results in type 2 diabetes.
19491206 Observational study of gene-disease association. (HuGE Navigator)
19481058 caveolin-3 negatively regulates Kir6.2/SUR2A channel function.
19475716 Observational study of gene-disease association. (HuGE Navigator)
19435956 Tooth discoloration is a novel side effect of sulfonylurea therapy in patients with permanent neonatal diabetes due to mutations in KCNJ11.
19401414 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19380854 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19368707 Observational study of gene-disease association. (HuGE Navigator)
19357197 Kir6.2 contains a di-acidic endoplasmic reticulum exit signal, which promotes endoplasmic reticulum exit via a process that requires Sar1.
19345438 A girl with celiac disease and KCNJ11 mutation was transferred to glibenclamide when 19.8 years old. When her compliance to the gluten free diet worsened, her metabolic control deteriorated.
19336475 Observational study of gene-disease association. (HuGE Navigator)
19324937 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19279076 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19264985 Observational study of gene-disease association. (HuGE Navigator)
19258437 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19254908 Recessive inactivating mutations in ABCC8 and KCNJ11 are the most common cause of CHI.
19247372 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19225753 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19214942 Data suggest that patients with type 2 diabetes carrying the K variant of the E23K polymorphism in KCNJ11 have reduced response to sulfonylurea therapy, resulting in increased HbA(1c)and in lower risk for severe sulfonylurea-induced hypoglycemia.
19214942 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19139842 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19139106 Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.
19082521 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19033397 Type 2 diabetes susceptibility of KCNJ11 was confirmed in Japanese.
19033397 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19020324 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19020323 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19002430 Observational study of gene-disease association. (HuGE Navigator)
18998097 DNA is extracted from peripheral blood leukocytes and amplification of the KCNJ11 gene by the PCR, sequencing, and mutation detection are provided.
18984664 Observational study of gene-disease association. (HuGE Navigator)
18972257 Four candidate polymorphisms in the three genes TCF7L2 (rs12255372 and rs7903146), PPARG (rs1801282), KCNJ11 (rs5219) and traditional risk factors were studied
18958766 The rs7903146 variant of the TCF7L2 gene might influence PCOS predisposition, while no association is observed between the E23K variant of KCNJ11 and susceptibility to PCOS and related traits.
18958766 Observational study of gene-disease association. (HuGE Navigator)
18854154 Knockdown of potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1
18796522 variation marked by the Kir6.2 E23K and sulfonylurea receptor A1369S mutations is associated with alterations in glucose-stimulated insulin secretion but not with other measures of glucose homeostasis in an African-American population
18796522 Observational study of gene-disease association. (HuGE Navigator)
18767144 Mutations of the gene in diabetes mellitus and hyperinsulinism (Review)
18758683 KCNJ11 E23K and ABCC8 exon 31 variants contribute to susceptibility to susceptibility to type 2 diabeetes, glucose intolerance and altered insulin secretion in a Russian population.
18758683 Observational study of gene-disease association. (HuGE Navigator)
18752747 Underexpression of Kir6.2 decreased the proliferation and invasion of the HepG2 cells.
18719881 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18710329 Observational study of gene-disease association. (HuGE Navigator)
18664331 The KCNJ11 E23K variant was associated with the therapeutic effect of repaglinide
18664331 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18662362 We identified a mutation in KCNJ11 in 14 patients from 12 families with permanent neonatal diabetes mellitus.
18598350 Observational study of gene-disease association. (HuGE Navigator)
18597214 Observational study of gene-disease association. (HuGE Navigator)
18596924 The mutation of KIR6.2 channel is recessively inherited.
18591388 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18566517 Mutations in the pore-forming K(ATP) channel subunit cause neonatal diabetes & discusses recent advances in understanding of clinical features of neonatal diabetes, its underlying molecular mechanisms & their impact on treatment[review]
18559200 KCNJ11 gene was implicated in gestational diabetes.
18556340 Case of diabetes without ketoacidosis diagnosed on the fourth day of life of a girla, with a nove R265H mutation of the KCNJ11 in her and her unaffected father.
18544102 a novel heterozygous mutation (c. 679C-->G and c. 680A-->T) was identified, resulting in a GAG-->CTG (E227L) substitution in KCNJ11 in a family with variable phenotypes of dominantly inherited diabetes mellitus
18516622 Observational study of gene-disease association. (HuGE Navigator)
18504616 Kir6.2 K23 as a risk factor for adverse subclinical myocardial remodeling.
18504616 Observational study of gene-disease association. (HuGE Navigator)
18498634 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
18426861 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18335204 Mutations in this protein explain the inability of sulfonylureas to ameliorate the diabetes of affected patients.
18290324 The polymorphism in KCNJ11 is implicated in the persistent hyperglycemia hypolycemia of infancy disorder.
18290324 Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18281290 K(IR)6.2-based channels with diabetogenic receptors reveal that MgATP-dependent hyper-stimulation of mutant SUR can compromise the ability of K(ATP) channels to function as metabolic sensors
18243136 The down-regulation of AK1 expression by hyperglycemia may contribute to the defective coupling of glucose metabolism to K-ATP channel activity in type 2 diabetes.
18221420 Case of an 18-month-old infant with permanent neonatal diabetes due to an activating KCNJ11 mutation who successfully transitioned from subcutaneous insulin therapy to oral sulfonylurea therapy in the outpatient setting.
18162508 The association of 6 loci with type 2 diabetes risk in Japanese patients is reported.
18162508 Observational study of gene-disease association. (HuGE Navigator)
18162506 Observational study of genotype prevalence. (HuGE Navigator)
18159846 This report describes two cases with PNDM due to the R201H mutation, treated with the same sulphonylurea (glipizide GITS). We conclude that to achieve normoglycemia, patients with PNDM should refrain from eating high glycemic-index products.
18073297 The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood.
17994213 PPARG and KCNJ11 variants that are known to influence individual predisposition to type 2 diabetes do not appear to have pleiotropic effect on early growth
17994213 Observational study of gene-disease association. (HuGE Navigator)
17978456 a rare case of permanent neonatal diabetes due to R20IC mutation in KCNJ11 gene.
17977958 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17976307 Carriers of the predisposing Kir6.2 E23K K allele showed no increased risk of either type of diabetes mellitus development.
17976307 Observational study of gene-disease association. (HuGE Navigator)
17965318 Observational study of gene-disease association. (HuGE Navigator)
17965318 Kir6.2 E23K polymorphism is an independent genetic risk factor for diabetes in the general Japanese population.
17965292 Effectiveness of sulfonylrea therapy for permanent neonatal diabetes in an adult patient carrying the G53D mutation in the KCNJ11 gene.
17923772 Studies reported showing activating mutations in the KCNJ11 gene, encoding the Kir6.2 subunit of the pancreatic KATP channel, in patients with permanent neonatal diabetes mellitus.
17922473 Our results report for the first time a positive association of the E23K variant with type 2 diabetes in an Arab population.
17922473 Observational study of gene-disease association. (HuGE Navigator)
17919178 Both mutations reduced the sensitivity of the K(ATP) channel to inhibition by MgATP and enhanced whole-cell K(ATP) currents. In pancreatic beta cells, such an increase in the K(ATP) current would reduce insulin secretion and thereby cause diabetes.
17901525 Genetic testing enabled successful glibenclamide treatment as early as 3 months to a newborn with KCNJ11 mutation.
17898091 KCNJ11 E23K polymorphism is associated with an increased risk ratio for type 2 diabetes.
17894829 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17890419 This article reports a girl who developed infantile spasms and early onset diabetes mellitus at the age of 3 months and revealed DEND syndrome with a heterozygous activating mutation in Kir6.2.
17855752 This study showed that F333 in Kir6.2 interacts functionally with SUR2A to modulate channel rundown and MgADP activation.
17825556 Kir6.2/SUR2A deficiency is associated with impaired muscle function in K(+)-depleted rats and in hypoPP.
17823772 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
17823772 Significant associations between eight SNPs, including the KCNJ11 E23K and ABCC8 S1369A variants, and T2D were found.
17720745 the common E23K genetic variant at the KCNJ11 gene locus was significantly associated with cardiovascular function
17720745 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
17659066 most patients with neonatal diabetes caused by mutations in the KCNJ11 gene can be successfully managed with a sulfonylurea agent without the need for insulin
17652641 We screened the DNA of a 3-year-old patient with neonatal diabetes, severe developmental delay, and epilepsy for mutations. We identified a novel Kir6.2 mutation causing DEND syndrome.
17635943 Both the 6q24 abnormality and KCNJ11 mutation are major causes of neonatal diabetes mellitus in Japanese patients
17601994 Observational study of gene-disease association. (HuGE Navigator)
17570749 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
17535866 The hyperactive Glu23Lys variant of the K(ATP) channel subunit Kir6.2 may cause defective glucose sensing in several tissues and impaired glycaemic control in children with type 1 diabetes
17475937 Amino acid substitution predicts permanent neonatal diabetes.
17463248 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
17446535 study has shown that mutations in the KCNJ11 and ABCC8 are a major cause of transient neonatal diabetes mellitus, accounting for 29% of all cases and 89% of non-6q24 transient neonatal diabetes mellitus
17431820 The result suggests that the Kir6.2/KCNJ11 gene is not related to sudden cardiac death in this family.
17395632 The C terminus of KIR6.2 contains F333 and is involved in more than one type of functional interaction with SUR, and that F333 interacts differentially with SUR1 and SUR2.
17380317 Human fetal pancreas produces all key elements of the glucose-sensing apparatus, including KIR6.2, which may contribute to poor secretory responses in early life.
17378627 Observational study of gene-disease association. (HuGE Navigator)
17342155 Observational study of gene-disease association. (HuGE Navigator)
17342155 these data (involving >4600 subjects) provide no evidence that common variants of the KCNJ11 E23K polymorphism have a major influence on polycystic ovary syndrome susceptibility, though modest effect sizes (OR<1.25) cannot be excluded.
17327377 KCNJ11 mutations can arise either during gametogenesis or embryogenesis
17316607 showed, in two Italian patients, two new heterozygous mutations which result in the appearance of premature translation termination codons resulting in the premature end of Kir6.2
17296510 Kir6.2 is found in pancreatic beta-cells, brain, heart and skeletal muscle and in patients with permanent neonatal diabetes mellitus, mutations in 30 to 50% of the cases. [REVIEW]
17259403 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
17259403 We conclude that the lysine variant in KCNJ11 E23K leads to diminished insulin secretion in individuals with IGT.
17259376 results demonstrate that ATP-binding site mutations of KCNJ11 can cause Developmental delay, epilepsy, and neonatal diabetes (DEND)
17257281 Observational study of gene-disease association. (HuGE Navigator)
17213273 Mutation carriers with neonatal diabetes mellitus may be successflly transferred from insulin to sulfonylurea agents.
17192490 Observational study of gene-disease association. (HuGE Navigator)
17192350 Successful transfer off insulin to sulfonylurea is feasible in adults in neonatal diabetes due to KCNJ1-activating mutations.
17137217 Observational study of gene-disease association. (HuGE Navigator)
17065345 R201H mutation pf the kir6.2 channel is able to cause neonatal diabetes in patients.
17047922 Sulfonylurea treatment can result in prolonged, excellent glycaemic control and may improve motor features, but not mental features, associated with KCNJ11 mutations.
17021801 Heterozygous activating mutations in Kir6.2 (KCNJ11) are a common cause of neonatal diabetes
17020404 Combining information from several known common risk polymorphisms allows the identification of population subgroups with markedly differing risks of developing type 2 diabetes compared to those obtained using single polymorphisms.
16873704 Observational study of gene-disease association. (HuGE Navigator)
16733889 Observational study of gene-disease association. (HuGE Navigator)
16732049 Neonatal hyperglycemia caused bsy an amino acid substitustion ins this protein.
16731860 Observational study of gene-disease association. (HuGE Navigator)
16670688 The severe developmental Delay, Epilepsy and Neonatal Diabetes syndrome was seen with the novel C166F KCNJ11 mutation and mild developmental delay with the V59M mutation.
16636122 inwardly rectifying potassium channel Kir6.2 mutations greatly reduce fetal insulin secretion and hence fetal growth, but this is independent of mutation severity
16609879 Observational study of genotype prevalence. (HuGE Navigator)
16609879 KCNJ11 mutations are a common cause of permanent diabetes diagnosed in the first 6 months and all patients diagnosed in this age group should be tested.
16595597 Observational study of gene-disease association. (HuGE Navigator)
16455067 Observational study of gene-disease association. (HuGE Navigator)
16455067 E23K gene polymorphism in Kir6.2 gene appeared to be related to high susceptibility to coronary heart disease
16416420 analysis of mutations in Kir6.2 (KCNJ11) and SUR1 (ABCC8), the spectrum of phenotypes, and the implications for treatment when patients are diagnosed with mutations in these genes [review]
16367885 Observational study of gene-disease association. (HuGE Navigator)
16339180 The greater ATP inhibition of mutant Kir6.2/SUR2A than of Kir6.2/SUR1 can explain why gain-of-function Kir6.2 mutations manifest effects in brain and beta-cells but not in the heart.
16332676 identification of a novel KCNJ11 mutation associated with congenital hyperinsulinism that renders a missense mutation, F55L, in the Kir6.2 protein.
16320083 Observational study of gene-disease association. (HuGE Navigator)
16320083 The E23K polymorphism of KCNJ11 seems to predispose to gestational diabetes mellitus (GDM) in Scandinavian women.
16142506 Observational study of gene-disease association. (HuGE Navigator)
16087682 KCNJ11 mutations cause neonatal diabetes, and increase the current magnitude of heterozygous K(ATP) channels in two ways: by increasing MgATP activation and by decreasing ATP inhibition.
15983208 Effects of side-chain length and the degree of saturation of various acyl CoAs on channel activity.
15962003 Mutations in Kir6.2 altered Kir6.2/SUR1 interactions.
15956217 Observational study of gene-disease association. (HuGE Navigator)
15956217 Kir6.2 and INS VNTR variants may have roles in glucose homeostasis in young obese
15930170 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
15855351 E23K variant in muscular K(ATP) channels affects systemic glucose homeostasis and poses an important risk factor for type 2 diabetes and obesity.
15842514 Meta-analysis of gene-disease association. (HuGE Navigator)
15838686 an R201H missense mutation, and sulfonylurea-treatable diabetes in a newborn
15797964 Observational study of gene-disease association. (HuGE Navigator)
15797964 Amino acid substituion polymorphism increases the risk of type 2 diabetes.
15760904 the epoxyeicosatrienoic acid-Kir6.2 interaction may allosterically change the ATP binding site on Kir6.2, reducing the channel sensitivity to ATP
15735229 Heterozygote mutation in a patient with severe diabetic ketoacidosis, was nevertheless able to tolerate glibenclamide despite transitory diarrhea.
15718250 mutations in KCNJ11 are the first genetic cause for remitting as well as permanent diabetes
15583126 mutations in the slide helix of Kir6.2 (V59G) influence the channel kinetics, providing evidence that this domain is involved in Kir channel gating
15580558 KCNJ11 mutations are a common cause of permanent neonatal diabetes mellitus either in isolation or associated with developmental delay
15579791 Observational study of gene-disease association. (HuGE Navigator)
15579791 Polymorphisms of SUR1 gene predicted conversion from impaired glucose tolerance to type 2 diabetes, and the effect of these polymorphisms on diabetes risk was additive with E23K polymorphism of Kir6.2 gene.
15562009 Mutations can yield partially functioning channels, including cases of hyperinsulinism that are fully responsive to diazoxide.
15504982 KCNJ11 mutations are rare in patients diagnosed with type 1 diabetes, the identification of a KCNJ11 mutation may have important treatment implications.
15448107 Kir6.2 mutations are a common cause (53%) of permanent neonatal diabetes in Caucasians.
15448106 Insulin-dependent patients with mutations in Kir6.2 may be managed on an oral sulfonylurea with sustained metabolic control rather than insulin injections.
15115830 Heterozygous activating mutations in the gene encoding Kir6.2 cause permanent neonatal diabetes and may also be associated with developmental delay, muscle weakness, and epilepsy.
15111507 SUR1/Kir6.2 gene region contributes to risk of type 2 diabetes and encodes targets for hypoglycemic medications. Link between mechanism of disease and targets for pharmacological treatment.
14988278 Association of this gene's single nucleotide polymorphism with type 2 diabetes.
14871556 Observational study of gene-disease association. (HuGE Navigator)
14871556 In this study of acute myocardial infarct patients, sudden cardiac death was not related to polymorphisms in the KCNJ11 gene
14681552 binding of ATP to Kir6.2 alters the interaction between the N- and C-terminal domains
14656703 a compensatory increase in I(Ca) counteracts a mild activation of ATP-insensitive K(ATP) channels to maintain the action potential duration and elevate the inotropic state of transgenic hearts
14551916 Observational study of gene-disease association. (HuGE Navigator)
14514649 E23K/I337V polymorphism may have a diabetogenic effect via increased KATP channel activity in response to endogenous levels of LC-CoAs in tissues involved in the maintenance of glucose homeostasis.
12934053 In corporal smooth muscle is composed of Kir6.1-Kir6.2 construct expressed with SUR2B.K(ATP) channel in corporal smooth muscle cells is composed of heteromultimers of Kir6.1 and Kir6.2 with the ratio of 3 : 1 or 4 : 0 and SUR2B.
12860923 Binding of the alpha phosphate group of ATP to R201 then stabilizes the closed state. R50 on the N-terminus controls ATP binding by facilitating the interaction of the beta phosphate group of ATP with K185 to destabilize the open state.
12819904 No association for NIDDM susceptibility polymorphism in Kir6.2.
12540638 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
12540638 The E23K variant associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes.
12540637 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
12540637 E23K variant is associated with type 2 diabetes.
12388475 Localization of ATP-sensitive K+ (KATP) channels in human skeletal muscle and the functional importance of these channels for human muscle K+ distribution at rest and during muscle activity
12356945 down-regulation of this channel may facilitate myometrial function during late pregnancy
12351459 the E23K mutation in the KIR6.2 gene is not associated with detectable alterations in glucose-stimulated insulin secretion
12213829 the MDR-like core of SUR is linked with the K(IR) pore in KATP channels
12199344 ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures. May account for the different therapeutic responses.
12196481 Observational study of gene-disease association. (HuGE Navigator)
12196481 The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia.
11825905 Assembly limits the pharmacological complexity of ATP-sensitive potassium channels
11424233 Observational study of gene-disease association. (HuGE Navigator)
11318841 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MLSRKGIIPEEYVLTRLAEDPAEPRYRARQRRARFVSKKGNCNVAHKNIREQGRFLQDVFTTLVDLKWPH      1 - 70
TLLIFTMSFLCSWLLFAMAWWLIAFAHGDLAPSEGTAEPCVTSIHSFSSAFLFSIEVQVTIGFGGRMVTE     71 - 140
ECPLAILILIVQNIVGLMINAIMLGCIFMKTAQAHRRAETLIFSKHAVIALRHGRLCFMLRVGDLRKSMI    141 - 210
ISATIHMQVVRKTTSPEGEVVPLHQVDIPMENGVGGNSIFLVAPLIIYHVIDANSPLYDLAPSDLHHHQD    211 - 280
LEIIVILEGVVETTGITTQARTSYLADEILWGQRFVPIVAEEDGRYSVDYSKFGNTIKVPTPLCTARQLD    281 - 350
EDHSLLEALTLASARGPLRKRSVPMAKAKPKFSISPDSLS                                  351 - 390
//

Text Mined References (333)

PMID Year Title
26841550 2015 [The study of the association of polymorphism rs5219 gene KCNJ11 with obesity and the risk of type 2 diabetes among residents of the Moscow Region].
26590798 2015 Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy.
26448950 2015 KCNJ11: Genetic Polymorphisms and Risk of Diabetes Mellitus.
25955821 2015 Replication of KCNJ11 (p.E23K) and ABCC8 (p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis.
25931017 2015 Coupling of olfactory receptor and ion channel for rapid and sensitive visualization of odorant response.
25916116 [Association of the polymorphisms of the FTO, KCNJ11, SLC30A8 and CDKN2B genes with type 2 diabetes].
25877689 2015 Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
25781672 2015 Sulfonylurea in the treatment of neonatal diabetes mellitus children with heterogeneous genetic backgrounds.
25765446 2015 Three novel pathogenic mutations in KATP channel genes and somatic imprinting alterations of the 11p15 region in pancreatic tissue in patients with congenital hyperinsulinism.
25725792 2015 The E23K and A190A variations of the KCNJ11 gene are associated with early-onset type 2 diabetes and blood pressure in the Chinese population.
25678012 2015 Successful transition to sulfonylurea in neonatal diabetes, developmental delay, and seizures (DEND syndrome) due to R50P KCNJ11 mutation.
25573672 2015 An analysis of the association between a polymorphism of KCNJ11 and diabetic retinopathy in a Chinese Han population.
25456640 2015 Update on diabetes classification.
25249341 2015 Mitochondrial KATP Channels Control Glioma Radioresistance by Regulating ROS-Induced ERK Activation.
25247988 2014 Population specific impact of genetic variants in KCNJ11 gene to type 2 diabetes: a case-control and meta-analysis study.
25201519 2014 Clinical and histological heterogeneity of congenital hyperinsulinism due to paternally inherited heterozygous ABCC8/KCNJ11 mutations.
25165692 2014 Evidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysis.
25115353 2014 KCNJ11 E23K variant is associated with the therapeutic effect of sulphonylureas in Chinese type 2 diabetic patients.
25008049 2014 Mutational analysis of ABCC8, KCNJ11, GLUD1, HNF4A and GCK genes in 30 Chinese patients with congenital hyperinsulinism.
24996284 2014 Association between E23K variant in KCNJ11 gene and new-onset diabetes after liver transplantation.
24898818 2014 Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population: a case-control study and meta-analysis.
24855163 2014 Patient with iDEND syndrome-related mutation.
24710510 2014 Quantitative assessment of the effect of KCNJ11 gene polymorphism on the risk of type 2 diabetes.
24698822 2014 KCNJ11 gene mutation analysis on nine Chinese patients with type 1B diabetes diagnosed before 3 years of age.
24686051 2014 Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.
24582665 2014 A mutation causing increased KATP channel activity leads to reduced anxiety in mice.
24564958 2014 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
24558086 2014 Long-term efficacy of glibenclamide and sitagliptin therapy in adult patients with KCNJ11 permanent diabetes.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24485399 2014 Gender-dependent associations of CDKN2A/2B, KCNJ11, POLI, SLC30A8, and TCF7L2 variants with type 2 diabetes in (North African) Tunisian Arabs.
24468099 2014 A novel mutation of KCNJ11 gene in a patient with permanent neonatal diabetes mellitus.
24460047 2014 Lack of genetic susceptibility of KCNJ11 E23K polymorphism with risk of type 2 diabetes in an Iranian population.
24442125 2014 CYP2C9, KCNJ11 and ABCC8 polymorphisms and the response to sulphonylurea treatment in type 2 diabetes patients.
24434300 2014 Long-term follow-up and mutation analysis of 27 chinese cases of congenital hyperinsulinism.
24429282 2014 Phosphatidylinositol 4,5-biphosphate (PIP2) modulates interaction of syntaxin-1A with sulfonylurea receptor 1 to regulate pancreatic ?-cell ATP-sensitive potassium channels.
24421282 2014 A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.
24401662 2014 Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.
24332549 2014 E23K variant in KCNJ11 gene is associated with susceptibility to type 2 diabetes in the Mauritanian population.
24265373 2013 Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
24241377 2013 The E23K polymorphism of the KCNJ11gene is associated with lower insulin release in patients with autosomal dominant polycystic kidney disease.
24222218 2013 Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.
24065655 2013 Meta-analysis of association of common variants in the KCNJ11-ABCC8 region with type 2 diabetes.
24018988 2013 Mutations in KCNJ11 are associated with the development of autosomal dominant, early-onset type 2 diabetes.
23667671 2013 Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.
23652837 2013 Genetic analysis of Italian patients with congenital hyperinsulinism of infancy.
23626843 2013 Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
23434183 2013 Unsuccessful switch from insulin to sulfonylurea therapy in permanent neonatal diabetes mellitus due to an R201H mutation in the KCNJ11 gene: a case report.
23412854 2013 Frequency of the E23K polymorphism of the KCNJ11 gene in children born small for gestational age and its influence on auxological and metabolic parameters in the prepubertal period.
23362136 2013 Clinical and molecular characterisation of hyperinsulinaemic hypoglycaemia in infants born small-for-gestational age.
23054005 2013 The KCNJ11 E23K gene polymorphism and type 2 diabetes mellitus in the Chinese Han population: a meta-analysis of 6,109 subjects.
23050777 2013 Permanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
22957706 2013 Identification of INS and KCNJ11 gene mutations in type 1B diabetes in Japanese children with onset of diabetes before 5 years of age.
22815030 2012 Three cases of permanent neonatal diabetes mellitus: genotypes and management outcome.
22768671 2012 Permanent neonatal diabetes mellitus due to KCNJ11 mutation in a Portuguese family: transition from insulin to oral sulfonylureas.
22704848 2012 Effects of single nucleotide polymorphisms in K(ATP) channel genes on type 2 diabetes in a Turkish population.
22701567 2012 Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.
22648966 2012 Amino acid properties may be useful in predicting clinical outcome in patients with Kir6.2 neonatal diabetes.
22591706 2012 Association of KCNJ11 E23K gene polymorphism with hypoglycemia in sulfonylurea-treated type 2 diabetic patients.
22573428 2012 E23K polymorphism of the KCNJ11 gene in Korean children with type 1 diabetes.
22512215 2011 Association of the KCNJ11 variant E23K with type 2 diabetes in Indo-Trinidadians.
22471336 2012 Detection of KCNJ11 gene mutations in a family with neonatal diabetes mellitus: implications for therapeutic management of family members with long-standing disease.
22443257 2012 Polycystic ovary syndrome is not associated with polymorphisms of the TCF7L2, CDKAL1, HHEX, KCNJ11, FTO and SLC30A8 genes.
22360462 2012 The neuroprotection of hydrogen sulfide against MPTP-induced dopaminergic neuron degeneration involves uncoupling protein 2 rather than ATP-sensitive potassium channels.
22308858 2011 Clinical characteristics of recessive and dominant congenital hyperinsulinism due to mutation(s) in the ABCC8/KCNJ11 genes encoding the ATP-sensitive potasium channel in the pancreatic beta cell.
22264780 2012 Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus.
22163043 2011 The KCNJ11 E23K polymorphism and progression of glycaemia in Southern Chinese: a long-term prospective study.
22133355 2012 Increased expression of adenosine triphosphate-sensitive K+ channels in mitral dysfunction: mechanically stimulated transcription and hypoxia-induced protein stability?
22082043 2012 The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies.
21981029 2012 KATP channel mutations in infants with permanent diabetes diagnosed after 6 months of life.
21871684 2011 Mother and daughter carrying the same KCNJ11 mutation but with a different response to switching from insulin to sulfonylurea.
21820692 2011 KATP channels in mesenchymal stromal stem cells: strong up-regulation of Kir6.2 subunits upon osteogenic differentiation.
21765448 2011 Association of the antihypertensive response of iptakalim with KCNJ11 (Kir6.2 gene) polymorphisms in Chinese Han hypertensive patients.
21710463 2011 Association of KCNJ11 with impaired glucose regulation in essential hypertension.
21682153 2011 Neonatal diabetes mellitus: description of two Puerto Rican children with KCNJ11 activating gene mutation.
21674179 2011 Hyperinsulinaemic hypoglycaemia and diabetes mellitus due to dominant ABCC8/KCNJ11 mutations.
21573802 2012 Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.
21544516 2011 Permanent diabetes during the first year of life: multiple gene screening in 54 patients.
21540348 2011 A conserved tryptophan at the membrane-water interface acts as a gatekeeper for Kir6.2/SUR1 channels and causes neonatal diabetes when mutated.
21422196 2011 Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.
21418633 2011 Expression of ATP-sensitive potassium channels in human pregnant myometrium.
21378087 2011 The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.
21352428 2011 KCNJ11 activating mutations cause both transient and permanent neonatal diabetes mellitus in Cypriot patients.
20980454 2011 Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.
20929593 2010 The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI.
20923526 2009 Ethnic difference in patients with type 2 diabetes mellitus in inter-East Asian populations: a systematic review and meta-analysis focusing on gene polymorphism.
20922570 2010 Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
20879858 2010 Impact of single nucleotide polymorphisms and of clinical risk factors on new?onset diabetes mellitus in HIV?infected individuals.
20863361 2010 Disease progression and search for monogenic diabetes among children with new onset type 1 diabetes negative for ICA, GAD- and IA-2 Antibodies.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20802253 2010 Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20685672 2010 ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.
20682687 2010 Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20616309 2010 Coronary artery calcification and its relationship to validated genetic variants for diabetes mellitus assessed in the Heinz Nixdorf recall cohort.
20610380 2010 Ankyrin-B regulates Kir6.2 membrane expression and function in heart.
20597906 2010 A validation study of type 2 diabetes-related variants of the TCF7L2, HHEX, KCNJ11, and ADIPOQ genes in one endogamous ethnic group of north India.
20595581 2010 Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin.
20571754 2010 Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
20550665 2010 Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
20540670 2011 Gestational diabetes mellitus shares polymorphisms of genes associated with insulin resistance and type 2 diabetes in the Greek population.
20540435 [Low doses of sulphonyluria as a successful replacement for insulin therapy in a patient with neonatal diabetes due to a mutation of KCNJ11 gene encoding Kir6.2].
20503258 2010 Candidate gene association study conditioning on individual ancestry in patients with type 2 diabetes and metabolic syndrome from Mexico City.
20490451 2010 Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.
20437825 2010 Relationship of five type 2 diabetes candidate gene polymorphisms to the age at diagnosis of diabetes in the Slovakian population.
20431170 2010 Transient Neonatal Diabetes due to Kcnj11 Mutation.
20424228 2010 Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.
20401705 2010 KCNJ11 activating mutation in an Indian family with remitting and relapsing diabetes.
20384434 2010 Combining genetic markers and clinical risk factors improves the risk assessment of impaired glucose metabolism.
20361036 2010 Gene-gene interactions lead to higher risk for development of type 2 diabetes in an Ashkenazi Jewish population.
20215779 2009 Evidence of interaction between type 2 diabetes susceptibility genes and dietary fat intake for adiposity and glucose homeostasis-related phenotypes.
20203524 2010 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
20164212 2010 Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
20161779 2010 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
20079163 2009 Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population.
20075150 2010 Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
20054294 2010 KCNJ11 Lys23Glu and TCF7L2 rs290487(C/T) polymorphisms affect therapeutic efficacy of repaglinide in Chinese patients with type 2 diabetes.
20043145 2010 Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study.
20036918 2010 Immunolocalization of mitoKATP subunits in human osteoblast-like cells.
20022885 2010 Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms.
19921246 2010 K(ATP) channelopathies in the pancreas.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19876004 2010 Obesity-related polymorphisms and their associations with the ability to regulate fat oxidation in obese Europeans: the NUGENOB study.
19862325 2009 PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
19808892 2010 Combined risk allele score of eight type 2 diabetes genes is associated with reduced first-phase glucose-stimulated insulin secretion during hyperglycemic clamps.
19805355 2009 Dual role of K ATP channel C-terminal motif in membrane targeting and metabolic regulation.
19794065 2010 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
19766903 2009 Metabolic control in type 2 diabetes is associated with sulfonylurea receptor-1 (SUR-1) but not with KCNJ11 polymorphisms.
19720844 2009 Use of multiple metabolic and genetic markers to improve the prediction of type 2 diabetes: the EPIC-Potsdam Study.
19692135 2009 Neonatal diabetes in a child positive for islet cell antibodies at onset and Kir6.2 activating mutation.
19685080 2009 KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response.
19602701 2009 Underlying genetic models of inheritance in established type 2 diabetes associations.
19592620 2009 Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.
19587354 2009 Coexpression of the type 2 diabetes susceptibility gene variants KCNJ11 E23K and ABCC8 S1369A alter the ATP and sulfonylurea sensitivities of the ATP-sensitive K(+) channel.
19578796 2009 Association of genetic variants with chronic kidney disease in individuals with different lipid profiles.
19502414 2009 Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
19498446 2009 The E23K variation in the KCNJ11 gene is associated with type 2 diabetes in Chinese and East Asian population.
19491206 2009 Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance.
19481058 2009 Caveolin-3 negatively regulates recombinant cardiac K(ATP) channels.
19475716 2009 The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
19435956 2009 Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
19401414 2009 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.
19380854 2009 Joint effects of common genetic variants on the risk for type 2 diabetes in U.S. men and women of European ancestry.
19368707 2009 Contribution of type 2 diabetes associated loci in the Arabic population from Tunisia: a case-control study.
19357197 2009 Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.
19345438 2009 Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet.
19336475 2009 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
19324937 2009 Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
19279076 2009 Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.
19264985 2009 Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes.
19258437 2009 Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism.
19254908 2009 The genetic basis of congenital hyperinsulinism.
19247372 2009 Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association.
19225753 2009 Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes.
19214942 2009 The E23K variant of KCNJ11 and the risk for severe sulfonylurea-induced hypoglycemia in patients with type 2 diabetes.
19139842 2009 Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.
19139106 2009 Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1.
19082521 2009 Association between insulin secretion, insulin sensitivity and type 2 diabetes susceptibility variants identified in genome-wide association studies.
19056611 2009 Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
19033397 2009 Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening.
19020324 2008 Clinical risk factors, DNA variants, and the development of type 2 diabetes.
19020323 2008 Genotype score in addition to common risk factors for prediction of type 2 diabetes.
19002430 2009 Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
18998097 2008 Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.
18984664 2009 Common type 2 diabetes risk gene variants associate with gestational diabetes.
18972257 2009 Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study.
18958766 2008 Genetic variants in TCF7L2 and KCNJ11 genes in a Greek population with polycystic ovary syndrome.
18796522 2008 Association of the Kir6.2 E23K variant with reduced acute insulin response in African-Americans.
18767144 2009 Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
18758683 2009 Genetic variations in the pancreatic ATP-sensitive potassium channel, beta-cell dysfunction, and susceptibility to type 2 diabetes.
18752747 2008 [Construction of shRNA expression vector silencing Kir6.2 gene and to study its influence on the proliferation and invasion of HepG2 cells].
18719881 2008 Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles.
18710329 2008 Genetic variants associated with insulin resistance and metabolic syndrome in young Asian Indians with myocardial infarction.
18664331 2008 Association of KCNJ11 and ABCC8 genetic polymorphisms with response to repaglinide in Chinese diabetic patients.
18662362 2008 Diagnosis and treatment of neonatal diabetes: a United States experience.
18598350 2008 Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.
18597214 2008 Variants of the PPARG, IGF2BP2, CDKAL1, HHEX, and TCF7L2 genes confer risk of type 2 diabetes independently of BMI in the German KORA studies.
18596924 2008 Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
18591388 2008 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
18566517 2009 The K(ATP) channel and neonatal diabetes.
18559200 2008 [Neonatal diabetes mellitus and KCNJ11 gene mutation: report of a family case].
18556340 2008 Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes.
18544102 2008 Variable phenotypic spectrum of diabetes mellitus in a family carrying a novel KCNJ11 gene mutation.
18516622 2008 Type 2 diabetes susceptibility loci in the Ashkenazi Jewish population.
18504616 2008 K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study.
18498634 2008 The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.
18426861 2008 Association analysis of type 2 diabetes Loci in type 1 diabetes.
18391953 2008 Rare independent mutations in renal salt handling genes contribute to blood pressure variation.
18372903 2008 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
18335204 2008 A Kir6.2 mutation causing severe functional effects in vitro produces neonatal diabetes without the expected neurological complications.
18290324 2008 Alanine in HI: a silent mutation cries out!
18281290 2008 A novel ABCC8 (SUR1)-dependent mechanism of metabolism-excitation uncoupling.
18280666 2008 Functional modulation of the ATP-sensitive potassium channel by extracellular signal-regulated kinase-mediated phosphorylation.
18243136 2008 Cytosolic adenylate kinases regulate K-ATP channel activity in human beta-cells.
18221420 2008 Outpatient transition of an infant with permanent neonatal diabetes due to a KCNJ11 activating mutation from subcutaneous insulin to oral glyburide.
18212765 2008 Mechanisms of disease: genetic insights into the etiology of type 2 diabetes and obesity.
18162508 2008 Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.
18162506 2008 Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood.
18159846 2007 [Glycemic index of meals and postprandial glycemia in patients with permanent neonatal diabetes due to Kir6.2 gene mutations].
18073297 2008 The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.
17994213 2008 No evidence that established type 2 diabetes susceptibility variants in the PPARG and KCNJ11 genes have pleiotropic effects on early growth.
17978456 2007 Permanent neonatal diabetes due to KCNJ11 gene mutation.
17977958 2008 Impact of common type 2 diabetes risk polymorphisms in the DESIR prospective study.
17976307 2007 KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients.
17965318 2007 Impact of Kir6.2 E23K polymorphism on the development of type 2 diabetes in a general Japanese population: The Hisayama Study.
17965292 2007 Sulfonylrea treatment in permanent neonatal diabetes due to G53D mutation in the KCNJ11 gene: improvement in glycemic control and neurological function.
17923772 2007 Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences.
17922473 2008 Genetic study of Saudi diabetes (GSSD): significant association of the KCNJ11 E23K polymorphism with type 2 diabetes.
17919178 2007 Functional analysis of two Kir6.2 (KCNJ11) mutations, K170T and E322K, causing neonatal diabetes.
17901525 2007 Early glibenclamide treatment in a clinical newborn with KCNJ11 gene mutation.
17898091 2008 KCNJ11 E23K affects diabetes risk and is associated with the disposition index: results of two independent German cohorts.
17894829 2007 Gene-gene interactions between HNF4A and KCNJ11 in predicting Type 2 diabetes in women.
17890419 2007 Infantile spasms as an epileptic feature of DEND syndrome associated with an activating mutation in the potassium adenosine triphosphate (ATP) channel, Kir6.2.
17855752 2007 A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.
17825556 2008 Reduced expression of Kir6.2/SUR2A subunits explains KATP deficiency in K+-depleted rats.
17823772 2007 SNPs in the KCNJ11-ABCC8 gene locus are associated with type 2 diabetes and blood pressure levels in the Japanese population.
17720745 2008 Association between KCNJ11 E23K genotype and cardiovascular and glucose metabolism phenotypes in older men and women.
17668386 2007 Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
17659066 2007 Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11.
17652641 2007 A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.
17635943 2007 Molecular basis of neonatal diabetes in Japanese patients.
17601994 2007 Variants of the transcription factor 7-like 2 (TCF7L2) gene are associated with type 2 diabetes in an African-American population enriched for nephropathy.
17570749 2005 Genetic prediction of future type 2 diabetes.
17535866 2007 Co-localisation of the Kir6.2/SUR1 channel complex with glucagon-like peptide-1 and glucose-dependent insulinotrophic polypeptide expression in human ileal cells and implications for glycaemic control in new onset type 1 diabetes.
17475937 2007 Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene.
17463249 2007 Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
17463248 2007 A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
17446535 2007 Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.
17431820 2008 Study of Kir6.2/KCNJ11 gene in a sudden cardiac death pedigree.
17395632 2007 The Kir6.2-F333I mutation differentially modulates KATP channels composed of SUR1 or SUR2 subunits.
17380317 2007 Low levels of glucose transporters and K+ATP channels in human pancreatic beta cells early in development.
17378627 Genotype-phenotype associations in patients with severe hyperinsulinism of infancy.
17342155 2007 Relationship between E23K (an established type II diabetes-susceptibility variant within KCNJ11), polycystic ovary syndrome and androgen levels.
17327377 2007 Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.
17316607 2007 Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.
17296510 2006 Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.
17259403 2007 Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program.
17259376 2007 An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.
17257281 2007 Polymorphisms of KCNJ11 (Kir6.2 gene) are associated with Type 2 diabetes and hypertension in the Korean population.
17213273 2007 Prevalence of permanent neonatal diabetes in Slovakia and successful replacement of insulin with sulfonylurea therapy in KCNJ11 and ABCC8 mutation carriers.
17192490 2007 Screening of 134 single nucleotide polymorphisms (SNPs) previously associated with type 2 diabetes replicates association with 12 SNPs in nine genes.
17192350 2007 Transfer to sulphonylurea therapy in adult subjects with permanent neonatal diabetes due to KCNJ11-activating [corrected] mutations: evidence for improvement in insulin sensitivity.
17137217 2006 Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
17065345 2006 A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.
17047922 2006 Improved motor development and good long-term glycaemic control with sulfonylurea treatment in a patient with the syndrome of intermediate developmental delay, early-onset generalised epilepsy and neonatal diabetes associated with the V59M mutation in the KCNJ11 gene.
17021801 2006 Functional analysis of six Kir6.2 (KCNJ11) mutations causing neonatal diabetes.
17020404 2006 Combining information from common type 2 diabetes risk polymorphisms improves disease prediction.
16873704 2006 Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
16733889 2006 [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].
16732049 2006 Treatment of hyperglycemia in a 7-year-old child diagnosed with neonatal diabetes.
16731860 2006 HLA genotyping supports a nonautoimmune etiology in patients diagnosed with diabetes under the age of 6 months.
16731833 2006 Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
16670688 2006 KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
16636122 2006 Activating mutations in the gene encoding Kir6.2 alter fetal and postnatal growth and also cause neonatal diabetes.
16609879 2006 Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.
16595597 2006 The E23K variant of KCNJ11 encoding the pancreatic beta-cell adenosine 5'-triphosphate-sensitive potassium channel subunit Kir6.2 is associated with an increased risk of secondary failure to sulfonylurea in patients with type 2 diabetes.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
16455067 2006 The E23K polymorphism in Kir6.2 gene and coronary heart disease.
16429405 2006 Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
16416420 2006 Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
16382105 2005 International Union of Pharmacology. LIV. Nomenclature and molecular relationships of inwardly rectifying potassium channels.
16367885 2006 IRS1, KCNJ11, PPARgamma2 and HNF-1alpha: do amino acid polymorphisms in these candidate genes support a shared aetiology between type 1 and type 2 diabetes?
16357843 2006 Molecular and immunohistochemical analyses of the focal form of congenital hyperinsulinism.
16339180 2006 Functional effects of naturally occurring KCNJ11 mutations causing neonatal diabetes on cloned cardiac KATP channels.
16332676 2006 A novel KCNJ11 mutation associated with congenital hyperinsulinism reduces the intrinsic open probability of beta-cell ATP-sensitive potassium channels.
16320083 2005 Association of the E23K polymorphism in the KCNJ11 gene with gestational diabetes mellitus.
16142506 2005 The Glu23Lys polymorphism in KCNJ11 and impaired hypoglycaemia awareness in patients with type 1 diabetes.
16087682 2005 Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.
15998776 2005 Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.
15983208 2005 Saturated and cis/trans unsaturated acyl CoA esters differentially regulate wild-type and polymorphic beta-cell ATP-sensitive K+ channels.
15962003 2005 Kir6.2 mutations causing neonatal diabetes provide new insights into Kir6.2-SUR1 interactions.
15956217 2005 Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese.
15930170 2005 The E23K variant in the Kir6.2 subunit of the ATP-sensitive K+ channel does not augment impaired glucose tolerance in Caribbean subjects with a family history of type 2 diabetes.
15855351 2005 Single nucleotide polymorphisms in K(ATP) channels: muscular impact on type 2 diabetes.
15842514 2005 Common variants in the ATP-sensitive K+ channel genes KCNJ11 (Kir6.2) and ABCC8 (SUR1) in relation to glucose intolerance: population-based studies and meta-analyses.
15838686 2005 The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.
15807877 2005 Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
15797964 2005 Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.
15784703 2005 The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.
15760904 2005 Molecular determinants of cardiac K(ATP) channel activation by epoxyeicosatrienoic acids.
15735229 2005 High-dose glibenclamide can replace insulin therapy despite transitory diarrhea in early-onset diabetes caused by a novel R201L Kir6.2 mutation.
15718250 2005 Relapsing diabetes can result from moderately activating mutations in KCNJ11.
15583126 2004 Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
15580558 2005 KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
15579791 2004 Polymorphisms of the SUR1 (ABCC8) and Kir6.2 (KCNJ11) genes predict the conversion from impaired glucose tolerance to type 2 diabetes. The Finnish Diabetes Prevention Study.
15579781 2004 Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity.
15562009 2005 Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.
15504982 2004 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.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15448107 2004 Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients.
15448106 2004 Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to sulfonylurea therapy.
15292329 2004 Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
15115830 2004 Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
15111507 2004 Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.
15004210 2004 Mapping the architecture of the ATP-binding site of the KATP channel subunit Kir6.2.
14988278 2004 Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.
14871556 2004 KCNJ11 polymorphisms and sudden cardiac death in patients with acute myocardial infarction.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14681552 2004 ATP-dependent interaction of the cytosolic domains of the inwardly rectifying K+ channel Kir6.2 revealed by fluorescence resonance energy transfer.
14656703 2004 Remodeling of excitation-contraction coupling in transgenic mice expressing ATP-insensitive sarcolemmal KATP channels.
14642445 2003 Investigation of the subunit composition and the pharmacology of the mitochondrial ATP-dependent K+ channel in the brain.
14551916 2003 Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action.
14514649 2003 Kir6.2 polymorphisms sensitize beta-cell ATP-sensitive potassium channels to activation by acyl CoAs: a possible cellular mechanism for increased susceptibility to type 2 diabetes?
12934053 2003 Molecular basis and characteristics of KATP channel in human corporal smooth muscle cells.
12860923 2003 Molecular mechanism for ATP-dependent closure of the K+ channel Kir6.2.
12819904 2003 Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2.
12540638 2003 The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes.
12540637 2003 Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.
12524280 2003 Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12388475 2003 Localization and function of ATP-sensitive potassium channels in human skeletal muscle.
12364426 2002 Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.
12356945 2002 Expression of mRNA transcripts for ATP-sensitive potassium channels in human myometrium.
12351459 2002 Variations in insulin secretion in carriers of the E23K variant in the KIR6.2 subunit of the ATP-sensitive K(+) channel in the beta-cell.
12213829 2002 SUR-dependent modulation of KATP channels by an N-terminal KIR6.2 peptide. Defining intersubunit gating interactions.
12199344 ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.
12196481 2002 The prevalent Glu23Lys polymorphism in the potassium inward rectifier 6.2 (KIR6.2) gene is associated with impaired glucagon suppression in response to hyperglycemia.
11825905 2002 Assembly limits the pharmacological complexity of ATP-sensitive potassium channels.
11424233 Genomic variation in pancreatic ion channel genes in Japanese type 2 diabetic patients.
11318841 2001 Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).
10391210 1999 Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis.
10338089 1999 Congenital hyperinsulinism: molecular basis of a heterogeneous disease.
10204114 1999 Molecular biology of adenosine triphosphate-sensitive potassium channels.
9831708 1998 Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.
9703328 1998 Cloning of the promoters for the beta-cell ATP-sensitive K-channel subunits Kir6.2 and SUR1.
9144288 1997 Truncation of Kir6.2 produces ATP-sensitive K+ channels in the absence of the sulphonylurea receptor.
9032109 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.
8923010 1996 Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.
8897013 1996 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.
8549873 1996 Identification of microsatellite markers near the human genes encoding the beta-cell ATP-sensitive K+ channel and linkage studies with NIDDM in Japanese.
7847376 1995 Homozygosity mapping, to chromosome 11p, of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.
7502040 1995 Reconstitution of IKATP: an inward rectifier subunit plus the sulfonylurea receptor.