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Interaction among GRIK2 gene on epilepsy susceptibility in Chinese children.

Autor: Xiong, Shunjun¹ (AUTHOR) xiongssjj23@163.com, Wang, Yanjun¹ (AUTHOR), Li, Huijuan¹ (AUTHOR), Zhang, Xiaofang¹ (AUTHOR)

Publikováno v: Acta Neurologica Scandinavica. Jun2019, Vol. 139 Issue 6, p540-545. 6p.

Correlation between GRIK2 rs6922753, rs2227283 polymorphism and aggressive behaviors with Bipolar Mania in the Chinese Han population

Autor: Haibo Ma, Guanglei Xun, Renyun Zhang, Xiaohua Yang, Yu Cao

Publikováno v: Brain and Behavior, Vol 9, Iss 11, Pp n/a-n/a (2019)

Abstract Objectives Animal studies have shown that glutamate receptor ionotropic kainate 2 (GRIK2) gene knockout mice are more impulsive and aggressive. This study aims to verify whether the rs6922753 and rs2227283 polymorphisms of the GRIK2 gene are

Externí odkaz: https://doaj.org/article/a507a879fc6b4d74a2894cb632d833d2

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Autor: Claudia A. L. Ruivenkamp, Lewis Pang, Nienke P. Dosa, Gemma L. Carvill, Rolph Pfundt, Joseph Junewick, Geoffrey T. Swanson, Nicole de Leeuw, Xing-Chang Wei, Katrin Õunap, Cacha M.P.C.D. Peeters-Scholte, Jacob R. Stolz, Reelika Part, Ionella Rebane, Zornitza Stark, Karen J. Low, Kendall M. Foote, Edwin P. Kirk, Joanna Kennedy, Steven M. Sperber, Sebastian Lunke, Sander Pajusalu, R. Curtis Rogers, Robert Roger Lebel, Jessica M. Davis, Hermine E. Veenstra-Knol, Sanne W. ten Broeke, Raymond J. Louie, A. Micheil Innes, Boris Keren, Ai Sakonju, Daniela Q.C.M. Barge-Schaapveld, John Christodoulou, Paul R. Mark, John A. Lawson, Bregje W.M. van Bon, Laura Roht, Cyril Mignot, Sian Ellard

Publikováno v: Am J Hum Genet
American Journal of Human Genetics, 108, 1692-1709
Stolz, J R, Foote, K M, Veenstra-Knol, H E, Pfundt, R, ten Broeke, S W, de Leeuw, N, Roht, L, Pajusalu, S, Part, R, Rebane, I, Õunap, K, Stark, Z, Kirk, E P, Lawson, J A, Lunke, S, Christodoulou, J, Louie, R J, Rogers, R C, Davis, J M, Innes, A M, Wei, X C, Keren, B, Mignot, C, Lebel, R R, Sperber, S M, Sakonju, A, Dosa, N, Barge-Schaapveld, D Q C M, Peeters-Scholte, C M P C D, Ruivenkamp, C A L, van Bon, B W, Kennedy, J, Low, K J, Ellard, S, Pang, L, Junewick, J J, Mark, P R, Carvill, G L & Swanson, G T 2021, ' Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders ', American Journal of Human Genetics, vol. 108, no. 9, pp. 1692-1709 . https://doi.org/10.1016/j.ajhg.2021.07.007
American Journal of Human Genetics, 108(9), 1692-1709. CELL PRESS
American Journal of Human Genetics, 108, 9, pp. 1692-1709

Kainate receptors (KARs) are glutamate-gated cation channels with diverse roles in the central nervous system. Bi-allelic loss of function of the KAR-encoding gene GRIK2 causes a nonsyndromic neurodevelopmental disorder (NDD) with intellectual disabi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7b1bb904407e09cee9b444bcf7c262f
https://hdl.handle.net/11370/e571add2-0d7b-440f-8547-5b406f97bea0