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Journal Abstract Search

279 related items for PubMed ID: 35370765

  • 1. 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
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  • 2. 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 21; 108(25):10361-6. PubMed ID: 21633011
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  • 3. 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; 21(2):135-143. PubMed ID: 32062759
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  • 5. [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 21; 29(14):1318-22. PubMed ID: 26672256
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  • 6. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function.
    Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S, Sterner C, Tegtmeier I, Penton D, Baukrowitz T, Hulton SA, Witzgall R, Ben-Zeev B, Howie AJ, Kleta R, Bockenhauer D, Warth R.
    Proc Natl Acad Sci U S A; 2010 Aug 10; 107(32):14490-5. PubMed ID: 20651251
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  • 9. Inwardly rectifying K+ channels 4.1 and 5.1 (Kir4.1/Kir5.1) in the renal distal nephron.
    Wang WH, Lin DH.
    Am J Physiol Cell Physiol; 2022 Aug 01; 323(2):C277-C288. PubMed ID: 35759440
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  • 11. 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 07; 106(14):5842-7. PubMed ID: 19289823
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  • 12. 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 18; 588(6):899-905. PubMed ID: 24561201
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  • 14. The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
    Bandulik S, Schmidt K, Bockenhauer D, Zdebik AA, Humberg E, Kleta R, Warth R, Reichold M.
    Pflugers Arch; 2011 Apr 18; 461(4):423-35. PubMed ID: 21221631
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  • 15. Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.
    Tang X, Hang D, Sand A, Kofuji P.
    Biochem Biophys Res Commun; 2010 Sep 03; 399(4):537-41. PubMed ID: 20678478
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  • 16. Role of inwardly rectifying K+ channel 5.1 (Kir5.1) in the regulation of renal membrane transport.
    Lin DH, Duan XP, Zheng JY, Wang WH.
    Curr Opin Nephrol Hypertens; 2022 Sep 01; 31(5):479-485. PubMed ID: 35894283
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  • 17. KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
    Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA.
    Nephron Physiol; 2013 Sep 01; 123(3-4):7-14. PubMed ID: 24193250
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  • 18. Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
    Sala-Rabanal M, Kucheryavykh LY, Skatchkov SN, Eaton MJ, Nichols CG.
    J Biol Chem; 2010 Nov 12; 285(46):36040-8. PubMed ID: 20807765
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  • 20. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations.
    Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M, Tobin J, Lieberer E, Sterner C, Landoure G, Arora R, Sirimanna T, Thompson D, Cross JH, van't Hoff W, Al Masri O, Tullus K, Yeung S, Anikster Y, Klootwijk E, Hubank M, Dillon MJ, Heitzmann D, Arcos-Burgos M, Knepper MA, Dobbie A, Gahl WA, Warth R, Sheridan E, Kleta R.
    N Engl J Med; 2009 May 07; 360(19):1960-70. PubMed ID: 19420365
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