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5. KCNJ10 mutations disrupt function in patients with EAST syndrome. Freudenthal B; Kulaveerasingam D; Lingappa L; Shah MA; Brueton L; Wassmer E; Ognjanovic M; Dorison N; Reichold M; Bockenhauer D; Kleta R; Zdebik AA Nephron Physiol; 2011; 119(3):p40-8. PubMed ID: 21849804 [TBL] [Abstract][Full Text] [Related]
6. Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype. Morin M; Forst AL; Pérez-Torre P; Jiménez-Escrig A; Barca-Tierno V; García-Galloway E; Warth R; Lopez-Sendón Moreno JL; Moreno-Pelayo MA Neurogenetics; 2020 Apr; 21(2):135-143. PubMed ID: 32062759 [TBL] [Abstract][Full Text] [Related]
7. Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome. Paulais M; Bloch-Faure M; Picard N; Jacques T; Ramakrishnan SK; Keck M; Sohet F; Eladari D; Houillier P; Lourdel S; Teulon J; Tucker SJ Proc Natl Acad Sci U S A; 2011 Jun; 108(25):10361-6. PubMed ID: 21633011 [TBL] [Abstract][Full Text] [Related]
8. KCNJ10 determines the expression of the apical Na-Cl cotransporter (NCC) in the early distal convoluted tubule (DCT1). Zhang C; Wang L; Zhang J; Su XT; Lin DH; Scholl UI; Giebisch G; Lifton RP; Wang WH Proc Natl Acad Sci U S A; 2014 Aug; 111(32):11864-9. PubMed ID: 25071208 [TBL] [Abstract][Full Text] [Related]
9. Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. Thompson DA; Feather S; Stanescu HC; Freudenthal B; Zdebik AA; Warth R; Ognjanovic M; Hulton SA; Wassmer E; van't Hoff W; Russell-Eggitt I; Dobbie A; Sheridan E; Kleta R; Bockenhauer D J Physiol; 2011 Apr; 589(Pt 7):1681-9. PubMed ID: 21300747 [TBL] [Abstract][Full Text] [Related]
10. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Scholl UI; Choi M; Liu T; Ramaekers VT; Häusler MG; Grimmer J; Tobe SW; Farhi A; Nelson-Williams C; Lifton RP Proc Natl Acad Sci U S A; 2009 Apr; 106(14):5842-7. PubMed ID: 19289823 [TBL] [Abstract][Full Text] [Related]
11. Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome. Mahmood F; Mozere M; Zdebik AA; Stanescu HC; Tobin J; Beales PL; Kleta R; Bockenhauer D; Russell C Dis Model Mech; 2013 May; 6(3):652-60. PubMed ID: 23471908 [TBL] [Abstract][Full Text] [Related]
12. SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule. Scholl UI; Dave HB; Lu M; Farhi A; Nelson-Williams C; Listman JA; Lifton RP Pediatr Nephrol; 2012 Nov; 27(11):2081-2090. PubMed ID: 22907601 [TBL] [Abstract][Full Text] [Related]
13. Src family protein tyrosine kinase regulates the basolateral K channel in the distal convoluted tubule (DCT) by phosphorylation of KCNJ10 protein. Zhang C; Wang L; Thomas S; Wang K; Lin DH; Rinehart J; Wang WH J Biol Chem; 2013 Sep; 288(36):26135-26146. PubMed ID: 23873931 [TBL] [Abstract][Full Text] [Related]
15. EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies. Lo J; Forst AL; Warth R; Zdebik AA Front Physiol; 2022; 13():852674. PubMed ID: 35370765 [TBL] [Abstract][Full Text] [Related]
16. Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome. Tanemoto M; Abe T; Uchida S; Kawahara K FEBS Lett; 2014 Mar; 588(6):899-905. PubMed ID: 24561201 [TBL] [Abstract][Full Text] [Related]
17. [The function and regulation of basolateral Kir4.1 and Kir4.1/Kir5.1 in renal tubules]. Xiao Y; Meng XX; Zhang H; Guo XW; Gu RM Sheng Li Xue Bao; 2018 Dec; 70(6):600-606. PubMed ID: 30560268 [TBL] [Abstract][Full Text] [Related]
18. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10. Abdelhadi O; Iancu D; Stanescu H; Kleta R; Bockenhauer D Rare Dis; 2016; 4(1):e1195043. PubMed ID: 27500072 [TBL] [Abstract][Full Text] [Related]
19. [EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear]. Chen J; Zhao H Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2015 Jul; 29(14):1318-22. PubMed ID: 26672256 [TBL] [Abstract][Full Text] [Related]
20. Role and mechanisms of regulation of the basolateral K Palygin O; Pochynyuk O; Staruschenko A Acta Physiol (Oxf); 2017 Jan; 219(1):260-273. PubMed ID: 27129733 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]