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Journal Abstract Search

219 related items for PubMed ID: 21088294

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  • 3. 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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  • 5. 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 03; 21(2):135-143. PubMed ID: 32062759
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  • 9. [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 03; 29(14):1318-22. PubMed ID: 26672256
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  • 10. 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 Jul 03; 13():852674. PubMed ID: 35370765
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  • 13. 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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  • 14. EAST/SeSAME syndrome: Review of the literature and introduction of four new Latvian patients.
    Celmina M, Micule I, Inashkina I, Audere M, Kuske S, Pereca J, Stavusis J, Pelnena D, Strautmanis J.
    Clin Genet; 2019 Jan 01; 95(1):63-78. PubMed ID: 29722015
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  • 16. 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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  • 17. Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance.
    Nadella RK, Chellappa A, Subramaniam AG, More RP, Shetty S, Prakash S, Ratna N, Vandana VP, Purushottam M, Saini J, Viswanath B, Bindu PS, Nagappa M, Mehta B, Jain S, Kannan R.
    Hum Genomics; 2019 Oct 22; 13(1):53. PubMed ID: 31640787
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  • 19. Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1.
    Méndez-González MP, Kucheryavykh YV, Zayas-Santiago A, Vélez-Carrasco W, Maldonado-Martínez G, Cubano LA, Nichols CG, Skatchkov SN, Eaton MJ.
    J Biol Chem; 2016 Apr 01; 291(14):7716-26. PubMed ID: 26867573
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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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