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Journal Abstract Search

161 related items for PubMed ID: 24193250

  • 1. 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; 123(3-4):7-14. PubMed ID: 24193250
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  • 2. 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
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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(2):135-143. PubMed ID: 32062759
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  • 4. [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
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  • 5. 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
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  • 6. Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
    Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC.
    J Neurophysiol; 2017 Oct 01; 118(4):2402-2411. PubMed ID: 28747464
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  • 8. Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
    Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M.
    J Am Soc Nephrol; 2021 Jun 01; 32(6):1498-1512. PubMed ID: 33811157
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  • 10. 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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  • 12. 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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  • 13. Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome.
    Williams DM, Lopes CM, Rosenhouse-Dantsker A, Connelly HL, Matavel A, O-Uchi J, McBeath E, Gray DA.
    J Am Soc Nephrol; 2010 Dec 07; 21(12):2117-29. PubMed ID: 21088294
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  • 17. Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.
    Severino M, Lualdi S, Fiorillo C, Striano P, De Toni T, Peluso S, De Michele G, Rossi A, Filocamo M, Bruno C.
    J Neurol; 2018 Jun 07; 265(6):1419-1425. PubMed ID: 29666984
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  • 18. The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.
    Chen J, Zhao HB.
    Neuroscience; 2014 Apr 18; 265():137-46. PubMed ID: 24480364
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  • 19. 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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  • 20. Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
    Mir A, Chaudhary M, Alkhaldi H, Alhazmi R, Albaradie R, Housawi Y.
    Brain Dev; 2019 Sep 18; 41(8):706-715. PubMed ID: 30952461
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