Phospho-KCNJ11 (Thr224) Antibody

1. The study is the first report of a novel form of late-onset persistent hyperinsulinemic hypoglycemia of infancy (PHHI) that is caused by a dominant mutation in KCNJ11 and exhibits a defect in proper surface expression of Kir6.2. PMID: 29087246
2. Genetic variation in the KCNJ11 is associated with Prediabetes. PMID: 28449408
3. A lasso extension forms an interface between SUR1 and Kir6.2 adjacent to the ATP site in the propeller form and is disrupted in the quatrefoil form. These structures support the role of SUR1 as an ADP sensor and highlight the lasso extension as a key regulatory element in ADP's ability to override ATP inhibition. PMID: 29286281
4. Combination of heterozygous mutations in the ABCC8 and KCNJ11 genes could also lead to beta cells dysfunction presenting as congenital hyperinsulinism. PMID: 29127764
5. It was confirmed that this deletion in the KCNJ11 gene did not affect the protein expression levels of key pluripotent factors. Additionally, normal karyotype and differentiation potency were observed for the cell line. PMID: 29034901
6. Genetic variants in KCNJ11 gene had significantly decreased pancreas weight and insulin mass similar to that of type 1 diabetes. PMID: 28938416
7. genetic association studies in pediatric population in Japan: Data confirm that mutations in KCNJ11 or ABCC8 are associated with neonatal diabetes mellitus. Novel mutations were identified; 2 in KCNJ11 (V64M, R201G) and 6 in ABCC8 (R216C, G832C, F1176L, A1263V, I196N, T229N). (KCNJ11 = ATP-sensitive inward rectifier potassium channel-11; ABCC8 = ATP-binding cassette subfamily C member-8) PMID: 27681997
8. Data suggest that patients with NDM (permanent neonatal diabetes mellitus) related to mutations in KCNJ11 are at increased risk for delays in learning, delays in social-emotional-behavioral development, sleep difficulties, and ADHD (attention deficit hyperactivity disorder) based on parent/guardian reports. PMID: 27555491
9. When typing at the polymorphic loci in the Glu23Lys in the KCNJ11 gene, the development of type 2 Diabetes Mellitus in the Kyrgyz population was associated with the T allele the 23Lys allele (OR, 1.62; p=0.019) in the KCNJ11 gene. PMID: 29171469
10. Evaluation of Glutathione Peroxidase and KCNJ11 Gene Polymorphisms in Patients with New Onset Diabetes Mellitus After Renal Transplantation. PMID: 28073131
11. Herein, we report the clinical features of two siblings with a heterozygous mutation C679 G>A in the KCNJ11 gene. PMID: 28347637
12. Upregulated KCNJ11 predicts a poor prognosis and is regulated by NFkappaB signaling in hepatocellular carcinoma (HCC). LDHA partially mediated the oncogenic roles of KCNJ11 in HCC. PMID: 29108994
13. Description of the variety of neurodevelopmental problems seen in those with KCNJ11 mutations, even in those without recognized global developmental delays. PMID: 27223594
14. Systematic assessment using standardized validated questionnaires reveals a range of psychiatric morbidity in children with KCNJ11 neonatal diabetes. This is under-recognized clinically and has a significant impact on affected children and their families. An integrated collaborative approach to clinical care is needed to manage the complex needs of people with KCNJ11 neonatal diabetes. PMID: 27086753
15. data demonstrate that increased Kir6.2 is seen in reactive astrocytes in old 3xTg-Alzheimer's disease (AD) mice and human AD tissue PMID: 27586053
16. KCNJ11 mutation causing loss of function of beta-cell KATP channels lead to congenital hyperinsulinism, higher basal [Ca(2+)] i and insulin secretion, increased insulin secretion in response to amino acids but not to glucose, increased basal rate of oxygen consumption and mitochondrial mass, increased rates of glycolysis, increased serine/glycine and glutamine biosynthesis, and low gamma-aminobutyric acid (GABA) levels. PMID: 28442472
17. Functional studies indicated that the Kir6.2-G324R mutation reduces the channel ATP sensitivity but that the difference in ATP inhibition between homozygous and heterozygous channels is remarkably small. Nevertheless, the homozygous patient developed neonatal diabetes, whereas the heterozygous parents were, and remain, unaffected. PMID: 27118464
18. KCNJ11 expression is decreased in human ischemia cardiomyopathy. PMID: 28209764
19. The polymorphic marker Glu23Lys in the KCNJ11 gene is associated with hypertension in Kyrgyzia. PMID: 28252621
20. Cross-linking experiments showed that KATP channel inhibitors promoted interactions between the N terminus of Kir6.2 and SUR1, whereas channel openers did not, suggesting the inhibitors enhance intersubunit interactions to overcome channel biogenesis and trafficking defects. PMID: 27573238
21. The genotype (EE/EK/KK) frequencies (%) for the CTRL group (38.2/50.2/11.6), Type 1 Diabetes (34.3/52.0/13.7), and Type 2 Diabetes (38.2/48.9/12.9) were in Hardy-Weinberg equilibrium and there were no significant differences. The minor allele frequencies (MAF; K) for CTRL (37.0%), Type 1 Diabetes (39.7%), and Type 2 Diabetes (37.4%) were not different among the groups PMID: 28387875
22. KCNJ11 mutation is associated with permanent neonatal diabetes. PMID: 27428845
23. A male infant who was diagnosed with congenital hyperinsulinism (CHI) with a novel homozygous p.F315I mutation in the kcnj11 channel (KCNJ11) gene, and parents were second cousins both with heterozygous mutations for this gene, and the patient was successfully managed with sirolimus therapy. PMID: 27181099
24. The most frequently seen mutations in Turkish patients with congenital hyperinsulinism (CHI) were ATP binding cassette subfamily C member 8 (ABCC8) gene, followed by 3-hydroxyacyl CoA dehydrogenase (HADH) and kcnj11 channel (KCNJ11) genes. PMID: 27181376
25. novel mosaic, paternally-inherited KCNJ11 mutation(s) in the patient. Further analysis confirmed uniparental disomy (UPD) of chromosome 11, which extended across the KCNJ11 gene at 11p15.1 and the Beckwith-Wiedemann syndrome locus at 11p15.5. PMID: 27173951
26. Coexistence of Mosaic Uniparental Isodisomy and a KCNJ11 Mutation Presenting as Diffuse Congenital Hyperinsulinism and Hemihypertrophy. PMID: 27174046
27. The interactive effect of smoking status and the KCNJ11 genotype may influence the antihypertensive effects of irbesartan in Chinese Han population. PMID: 26304961
28. study demonstrated that the combined genetic variants were borderline significantly associated with the efficacy of glibenclamide, and there are gene-gene interaction between KCNJ11 and CDKN2A/2B. PMID: 27008632
29. Homozygous KCNJ11 mutation is associated with persistently elevated insulin concentrations. PMID: 26581065
30. This studypredict response ketogenic dietary therapies. showed that Common variants in KCNJ11 and BAD do not response to ketogenic diety therapy. PMID: 26590798
31. KCNJ11 genetic variants may have a role in the development of diabetes mellitus [review] PMID: 26448950
32. 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. PMID: 25249341
33. Mutations in KCNJ11 are associated with neonatal diabetes mellitus. PMID: 25781672
34. 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 PMID: 25765446
35. The hORs were coupled to the Kir6.2 potassium channel for simple odorant detection. PMID: 25931017
36. We performed a retrospective cohort study using data on 58 individuals with neonatal diabetes due to KCNJ11 mutations PMID: 25877689
37. Polymorphism rs5219 of KCNJ11 gene is associated with type 2 diabetes. PMID: 26841550
38. KCNJ11 SNP was associated with diabetic retinopathy in Chinese Han patients with T2DM. PMID: 25573672
39. These calculations identified causal genetic variation within the ABCC8/KCNJ11 region for type 2 diabetes mellitus. PMID: 25955821
40. 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). PMID: 25725792
41. 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. PMID: 25678012
42. Polymorphisms in KCNJ11 might predispose the patients treated by tacrolimus to development of NODAT (new-onset diabetes after transplantation) after liver transplantation. PMID: 24996284
43. Paternally inherited heterozygous ABCC8/KCNJ11 mutations can manifest as a wide spectrum of congenital hyperinsulinism. PMID: 25201519
44. The KCNJ11 E23K variant is associated with a greater effect of sulphonylurea treatment. PMID: 25115353
45. 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. PMID: 25247988
46. 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 PMID: 25916116
47. Association analysis of IGF2BP2, KCNJ11, and CDKAL1 polymorphisms with type 2 diabetes mellitus in a Moroccan population.[meta-analysis] PMID: 24898818
48. 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. PMID: 25165692
49. 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. PMID: 24468099
50. Efficacy of glibenclamide and sitagliptin therapy in adult patients with KCNJ11 permanent diabetes. PMID: 24558086

显示更多

收起更多

HGNC: 6257

OMIM: 600937

KEGG: hsa:3767

STRING: 9606.ENSP00000345708

UniGene: Hs.248141