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Journal Abstract Search

193 related items for PubMed ID: 32062759

  • 21. 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
    [Abstract] [Full Text] [Related]

  • 22. 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 18; 27(11):2081-2090. PubMed ID: 22907601
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  • 23. Novel KCNJ10 Compound Heterozygous Mutations Causing EAST/SeSAME-Like Syndrome Compromise Potassium Channel Function.
    Zhang H, Zhu L, Wang F, Wang R, Hong Y, Chen Y, Zhu B, Gao Y, Luo H, Zhang X, Sun H, Zhou Y, Yao Y, Wang X.
    Front Genet; 2019 Nov 18; 10():912. PubMed ID: 31781151
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  • 26. Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome.
    Cross JH, Arora R, Heckemann RA, Gunny R, Chong K, Carr L, Baldeweg T, Differ AM, Lench N, Varadkar S, Sirimanna T, Wassmer E, Hulton SA, Ognjanovic M, Ramesh V, Feather S, Kleta R, Hammers A, Bockenhauer D.
    Dev Med Child Neurol; 2013 Sep 18; 55(9):846-56. PubMed ID: 23924083
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  • 27. 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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  • 29. The EAST syndrome and KCNJ10 mutations.
    Shi M, Zhao G.
    N Engl J Med; 2009 Aug 06; 361(6):630; author reply 630-1. PubMed ID: 19657131
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  • 30. 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 01; 589(Pt 7):1681-9. PubMed ID: 21300747
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  • 31. EAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10.
    Abdelhadi O, Iancu D, Stanescu H, Kleta R, Bockenhauer D.
    Rare Dis; 2016 Apr 01; 4(1):e1195043. PubMed ID: 27500072
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  • 33. Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report.
    Papavasiliou A, Foska K, Ioannou J, Nagel M.
    SAGE Open Med Case Rep; 2017 Apr 01; 5():2050313X17723549. PubMed ID: 28835827
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  • 36. EAST (Epilepsy, Ataxia, Sensorineural Hearing Loss, and Renal Tubulopathy) Syndrome: A Rare Association Between Brain, Ear, and Kidney.
    Vats A, Satpathy A, Sahoo B, Sahoo A, Nayak MK.
    Cureus; 2024 Sep 01; 16(9):e68909. PubMed ID: 39381482
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  • 38. 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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  • 39. [Clinical features and genetic analysis of a child with EAST/SeSAME syndrome].
    Zhang G, Wang M, Chen G, Yang L, Li S, Zhu D.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jul 10; 40(7):838-841. PubMed ID: 37368386
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  • 40. Discovery, Characterization, and Effects on Renal Fluid and Electrolyte Excretion of the Kir4.1 Potassium Channel Pore Blocker, VU0134992.
    Kharade SV, Kurata H, Bender AM, Blobaum AL, Figueroa EE, Duran A, Kramer M, Days E, Vinson P, Flores D, Satlin LM, Meiler J, Weaver CD, Lindsley CW, Hopkins CR, Denton JS.
    Mol Pharmacol; 2018 Aug 10; 94(2):926-937. PubMed ID: 29895592
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