| Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel. | Mechanism underlying delayed rectifying in human voltage-mediated activation Eag2 channel.
Zhang M, Shan Y, Pei D., Free PMC Article | 04/5/2023 |
| Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5. | Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5.
Happ HC, Sadleir LG, Zemel M, de Valles-Ibáñez G, Hildebrand MS, McConkie-Rosell A, McDonald M, May H, Sands T, Aggarwal V, Elder C, Feyma T, Bayat A, Møller RS, Fenger CD, Klint Nielsen JE, Datta AN, Gorman KM, King MD, Linhares ND, Burton BK, Paras A, Ellard S, Rankin J, Shukla A, Majethia P, Olson RJ, Muthusamy K, Schimmenti LA, Starnes K, Sedláčková L, Štěrbová K, Vlčková M, Laššuthová P, Jahodová A, Porter BE, Couque N, Colin E, Prouteau C, Collet C, Smol T, Caumes R, Vansenne F, Bisulli F, Licchetta L, Person R, Torti E, McWalter K, Webster R, Gerard EE, Lesca G, Szepetowski P, Scheffer IE, Mefford HC, Carvill GL., Free PMC Article | 03/2/2023 |
| A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism. | A novel loss-of-function mutation of the voltage-gated potassium channel Kv10.2 involved in epilepsy and autism.
Galán-Vidal J, Socuéllamos PG, Baena-Nuevo M, Contreras L, González T, Pérez-Poyato MS, Valenzuela C, González-Lamuño D, Gandarillas A., Free PMC Article | 09/17/2022 |
| Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population. | Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population.
Gervais O, Ueno K, Kawai Y, Hitomi Y, Aiba Y, Ueta M, Nakamura M, Tokunaga K, Nagasaki M., Free PMC Article | 03/19/2022 |
| Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth. | Chloride intracellular channel 1 cooperates with potassium channel EAG2 to promote medulloblastoma growth.
Francisco MA, Wanggou S, Fan JJ, Dong W, Chen X, Momin A, Abeysundara N, Min HK, Chan J, McAdam R, Sia M, Pusong RJ, Liu S, Patel N, Ramaswamy V, Kijima N, Wang LY, Song Y, Kafri R, Taylor MD, Li X, Huang X., Free PMC Article | 12/26/2020 |
| EAG2 potassium channel has an evolutionarily conserved function for promoting brain tumor growth. | EAG2 potassium channel with evolutionarily conserved function as a brain tumor target.
Huang X, He Y, Dubuc AM, Hashizume R, Zhang W, Reimand J, Yang H, Wang TA, Stehbens SJ, Younger S, Barshow S, Zhu S, Cooper MK, Peacock J, Ramaswamy V, Garzia L, Wu X, Remke M, Forester CM, Kim CC, Weiss WA, James CD, Shuman MA, Bader GD, Mueller S, Taylor MD, Jan YN, Jan LY., Free PMC Article | 11/21/2015 |
| The observed Ca(2+)-induced proteolytic cleavage of EAG2 channel may act as an adaptive response under physiological and/or pathological conditions. | A sustained increase in the intracellular Ca²⁺ concentration induces proteolytic cleavage of EAG2 channel.
Shimizu N, Sato N, Kikuchi T, Ishizaki T, Kobayashi K, Kita K, Takimoto K. | 09/26/2015 |
| Study propose that hypomethylation of the placental-specific KCNH5 promoter is frequently associated with KCNH5 expression in melanoma cells. | Retrotransposon hypomethylation in melanoma and expression of a placenta-specific gene.
Macaulay EC, Roberts HE, Cheng X, Jeffs AR, Baguley BC, Morison IM., Free PMC Article | 01/10/2015 |
| Our results demonstrate the critical role of the Arg327 residue in stabilizing the channel closed state and explicate for the first time the structural and functional change of a Kv10.2 channel mutation associated with neurological disease. | Multistate structural modeling and voltage-clamp analysis of epilepsy/autism mutation Kv10.2-R327H demonstrate the role of this residue in stabilizing the channel closed state.
Yang Y, Vasylyev DV, Dib-Hajj F, Veeramah KR, Hammer MF, Dib-Hajj SD, Waxman SG., Free PMC Article | 12/14/2013 |
| This study performed whole exome sequencing demonistrated that the true de novo variants represent mutations in genes (KCNH5, CLCN4, and ARHGEF15) not previously associated with epilepsies in humans. | Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF., Free PMC Article | 09/7/2013 |
| Three-dimensional structure of human Kv10.2 ion channel studied by single particle electron microscopy and molecular modeling | [Three-dimensional structure of human Kv10.2 ion channel studied by single particle electron microscopy and molecular modeling].
Sokolova OS, Shaĭtan KV, Grizel' AV, Popinako AV, Karlova MG, Kirpichnikov MP. | 09/15/2012 |
| Observational study of gene-disease association. (HuGE Navigator) | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A. | 12/5/2010 |
| Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article | 06/30/2010 |
| Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches.
Ikeda M, Tomita Y, Mouri A, Koga M, Okochi T, Yoshimura R, Yamanouchi Y, Kinoshita Y, Hashimoto R, Williams HJ, Takeda M, Nakamura J, Nabeshima T, Owen MJ, O'Donovan MC, Honda H, Arinami T, Ozaki N, Iwata N. | 12/2/2009 |
| data suggest that the 'Per-Ant-Sim' (PAS) and cyclic nucleotide binding (cNBD) domains at the N- and C-termini form interacting oligomers that have roles in channel function | Roles of surface residues of intracellular domains of heag potassium channels.
Stevens L, Ju M, Wray D. | 01/21/2010 |
| Methylation of KCNH5 was present in 80% of NSCLC tissues but only in 14% of noncancerous tissues. | DNA methylation in tumor and matched normal tissues from non-small cell lung cancer patients.
Feng Q, Hawes SE, Stern JE, Wiens L, Lu H, Dong ZM, Jordan CD, Kiviat NB, Vesselle H., Free PMC Article | 01/21/2010 |
| molecular identification and characterisation | Molecular identification and characterisation of the human eag2 potassium channel.
Ju M, Wray D. | 01/21/2010 |