KCNJ10 Antibody

1. results show that a glia-neuron interaction at the perisomatic space of LHb is involved in setting the neuronal firing mode in models of a major psychiatric disease. Kir4.1 in the LHb might have potential as a target for treating clinical depression. PMID: 29446379
2. A novel mutation in the KCNJ10 and previously characterized mutation in KCNT1 were identified in boy with seizures and neurodevelopmental delay. KCNJ10 L218F mutation associated with disease resulted in reduced Kir current. PMID: 28747464
3. rs17375748, rs1130183, rs12133079 and rs1186688 associated with sudden infant death syndrome PMID: 28520217
4. kcnj10 plays a role in K(+) recycling across the basolateral membrane in corresponding nephron segments and in generating negative membrane potential--{REVIEW} PMID: 27122539
5. Previous research had shown that Kir4.1 protein autoantibodies were specific for multiple sclerosis but they found that they weren't. PMID: 27074083
6. This study identifies potential SNPs of KCNJ10 gene that may contribute to seizure susceptibility and anti-epileptic drug resistance. PMID: 25874548
7. disruption of cav-1 decreases basolateral K(+) channel activity and depolarizes the cell membrane potential in the DCT1 at least in part by suppressing the stimulatory effect of c-Src on Kcnj10 PMID: 25848073
8. anti-KIR4.1 antibody levels differed in multiple sclerosis patients during relapse and remission; as such, they may represent a marker of disease exacerbation PMID: 25392324
9. This study showed that rs2486253, but not rs61822012, polymorphism of KCNJ10 gene was associated with childhood idiopathic generalized epilepsy. PMID: 25008907
10. we confirmed the presence of anti-Kir4.1 antibodies in multiple sclerosis patients, but at a much lower prevalence than previously reported. PMID: 24756568
11. KCNJ10 SNP is not associated with nonsyndromic enlargement of vestibular aqueduct in Chinese patients. PMID: 25372295
12. No KIR4.1-specific antigen is detected in serum or cerebrospinal fluid of multiple sclerosis (MS) patients; the target antigen of MS remains elusive. PMID: 25008548
13. This study observed a decrease of astroglial KIR4.1 but not glial fibrillary acidic protein IR. In chronic inactive and remyelinating MS lesions, KIR4.1 IR was restored on astrocytes and found in a subset of presumably new myelinating oligodendrocytes. PMID: 24777949
14. study provides an explanation for the pathophysiology of the p.A167V KCNJ10 mutation, which had not been considered pathogenic on its own; findings provide evidence for functional cooperation of KCNJ10 and KCNJ16; in vitro ascertainment of KCNJ10 function may necessitate co-expression with KCNJ16 PMID: 24193250
15. Mislocalization of the Kir4.1 channels contributes to renal salt wasting. PMID: 24561201
16. KCNJ10rs1130183 did not contribute to risk of seizure susceptibility. PMID: 24378235
17. Study confirms that EAST syndrome can be caused by many different mutations in KCNJ10 that significantly reduce K+ conductance. PMID: 21849804
18. Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology. PMID: 24014171
19. Serum antibodies to KIR4.1 are found in the majority of children with acquired demylinating disease but not in children with other diseases or in healthy controls. PMID: 24415573
20. the modulation of tyrosine phosphorylation of KCNJ10 should play a role in regulating membrane transport function in DCT1. PMID: 23873931
21. We found no evidence for a significant association between mutations of KCNJ10 and FOXI1 with SLC26A4 in Pendred syndrome/enlarged vestibular aqueducts. PMID: 23965030
22. The results of this study indicated that alterations in expression of Kir4.1 occurring in epilepsy-associated lesions are possibly influenced by the local inflammatory environment and in particular by the inflammatory cytokine IL-1beta. PMID: 23270518
23. Oligodendrocyte precursor cells establish themselves progressively through postnatal upregulation of Kir4.1 potassium channels. PMID: 23392672
24. The subcellular co-localisation of K(ir)4.1 and AQP4 in the supporting cells of the cochlea described in this study resembles that of the astroglia of the central nervous system and the glial Mueller cells in the retina. PMID: 22802001
25. This study demonistrated that Loss of perivascular Kir4.1 potassium channels in the sclerotic hippocampus of patients with mesial temporal lobe epilepsy. PMID: 22878665
26. No KCNJ10 mutations were present in bilateral deafness patients with inner ear malformation. PMID: 22412181
27. Downregulation of Kir4.1 channels aggravates the visual impairment caused by the initial photoreceptor degeneration. PMID: 22055109
28. Gain-of-function defects in Kir4.1 causes dysfunction in astrocytic-dependent potassium buffering and contributes to autism/epilepsy phenotype by altering neuronal excitability and synaptic function. PMID: 21458570
29. extracellular volume recordings indicate that compromised K(+) spatial buffering in brain underlies the epilepsy phenotype associated with human KCNJ10 mutations PMID: 21748805
30. Role of KCNJ10 function in the physiology of proximal and possibly also the distal retina. Impact of KCNJ10 mutations on the electroretinogram in four unrelated patients with EAST syndrome. PMID: 21300747
31. Mutations in the K+ channel gene KCNJ10 (Kir4.1) cause the autosomal recessive EAST syndrome which is characterized by epilepsy, ataxia, sensorineural deafness, and a salt-wasting tubulopathy. PMID: 21221631
32. This study suggests that the SNPs within the kcnj10 genes we examined do not play a major role in schizophrenia in the Han Chinese population. PMID: 20933057
33. CaR decreases cell surface expression of Kir4.1 channels via a mechanism that involves Galpha(q) and caveolin. PMID: 21084311
34. Perturbed pH gating may underlie the loss of channel function for the disease-associated mutant Kir4.1 channels and may have important physiologic consequences. [review] PMID: 21088294
35. The Kir4.1 channel transgene plays a role in setting the membrane potential of glial cells and in maintaining potassium permeability in glial-conditioned Kir4.1 knock-out mice. PMID: 21106816
36. SLC26A4, FOXI1 and KCNJ10 are not major determinants in unilateral deafness and enlarged vestibular aqueduct PMID: 20621367
37. When expressed in CHO and HEK293 cells, the KCNJ10 mutations R65P, G77R, and R175Q caused a marked impairment of channel function PMID: 20651251
38. Variations in the AQP4 and the KCNJ10/KCNJ9 region are likely to be associated with temporal lobe epilepsy. PMID: 19864112
39. molecular analysis on chromosome 1q as a candidate gene for Type 2 diabetes in Pima Indians PMID: 12401729
40. Arg271Cys missense variation in KCNJ10 (or a nearby variation) is related to general seizure susceptibility in humans. PMID: 15120748
41. Our results support previous evidence that the common KCNJ10 Arg271Cys missense variation influences seizure susceptibility of common IGE syndromes. PMID: 15725393
42. Calcium-sensing receptor interacts directly with Kir4.1 and Kir4.2 and can decrease their currents. PMID: 17122384
43. The results showed that the expression of Kir 4.1 mRNA and protein, as well as the Kir 4.1 immunoreactivity score (IRS), increased markedly with increasing pathologic grade. PMID: 18191638
44. identifY previously unidentified KCNJ10 missense or nonsense mutations on both alleles in all subjects affected by a unique human syndrome, and establish the essential role of basolateral K(+) channels in renal electrolyte homeostasis. PMID: 19289823
45. Mutations in KCNJ10 cause a specific disorder. Our findings indicate that KCNJ10 plays a major role in renal salt handling and possibly also in blood-pressure maintenance and its regulation. PMID: 19420365
46. mutations in the inwardly rectifying K(+) channel gene KCNJ10 are associated with nonsyndromic hearing loss in carriers of SLC26A4 mutations with an EVA/PS phenotype. PMID: 19426954

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HGNC: 6256

OMIM: 602208

KEGG: hsa:3766

STRING: 9606.ENSP00000357068

UniGene: Hs.408960