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Journal Abstract Search

149 related items for PubMed ID: 29191078

  • 21. KCNJ10 gene mutation in an 8-year-old boy with seizures.
    Kara B, Ekici B, Ipekçi B, Aslanger AK, Scholl U.
    Acta Neurol Belg; 2013 Mar; 113(1):75-7. PubMed ID: 22782654
    [No Abstract] [Full Text] [Related]

  • 22. 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; 21(12):2117-29. PubMed ID: 21088294
    [Abstract] [Full Text] [Related]

  • 23. 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]

  • 24. A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both.
    Gilliam D, O'Brien DP, Coates JR, Johnson GS, Johnson GC, Mhlanga-Mutangadura T, Hansen L, Taylor JF, Schnabel RD.
    J Vet Intern Med; 2014 Mar 18; 28(3):871-7. PubMed ID: 24708069
    [Abstract] [Full Text] [Related]

  • 25. 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
    [Abstract] [Full Text] [Related]

  • 26. Of dogs and men.
    Bockenhauer D, Kleta R.
    Eur J Hum Genet; 2017 Feb 12; 25(2):161. PubMed ID: 28079058
    [No Abstract] [Full Text] [Related]

  • 27. 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 Feb 12; 10():912. PubMed ID: 31781151
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. 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
    [Abstract] [Full Text] [Related]

  • 30. Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
    Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK.
    Brain Dev; 2021 Feb 10; 43(2):314-319. PubMed ID: 33092935
    [Abstract] [Full Text] [Related]

  • 31. Membrane physiology--bridging the gap between medical disciplines.
    Bleich M.
    N Engl J Med; 2009 May 07; 360(19):2012-4. PubMed ID: 19420371
    [No Abstract] [Full Text] [Related]

  • 32. 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
    [Abstract] [Full Text] [Related]

  • 33. A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.
    Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, Zhu Y, Ying K, Dias KR, Cho MT, Henderson LB, Baskin B, Morris P, Tao J, Cowley MJ, Dinger ME, Roscioli T, Caluseriu O, Suchowersky O, Sachdev RK, Lichtarge O, Tang J, Boycott KM, Holder JL, Zoghbi HY.
    Cell; 2018 Feb 22; 172(5):924-936.e11. PubMed ID: 29474920
    [Abstract] [Full Text] [Related]

  • 34.
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    [No Abstract] [Full Text] [Related]

  • 35. Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.
    Sicca F, Imbrici P, D'Adamo MC, Moro F, Bonatti F, Brovedani P, Grottesi A, Guerrini R, Masi G, Santorelli FM, Pessia M.
    Neurobiol Dis; 2011 Jul 22; 43(1):239-47. PubMed ID: 21458570
    [Abstract] [Full Text] [Related]

  • 36. How the imaging investigation of EAST syndrome points towards the future of radiological multi-parametric phenotyping of a genetic disease.
    Stivaros S.
    Dev Med Child Neurol; 2013 Sep 22; 55(9):783-4. PubMed ID: 23924081
    [No Abstract] [Full Text] [Related]

  • 37. 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 22; 461(4):423-35. PubMed ID: 21221631
    [Abstract] [Full Text] [Related]

  • 38. Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
    Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA.
    BMC Med Genet; 2018 Feb 20; 19(1):25. PubMed ID: 29458334
    [Abstract] [Full Text] [Related]

  • 39. Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.
    Shang L, Lucchese CJ, Haider S, Tucker SJ.
    Brain Res Mol Brain Res; 2005 Sep 13; 139(1):178-83. PubMed ID: 15936844
    [Abstract] [Full Text] [Related]

  • 40. Multisystem disorders, severe developmental delay and seizures in two affected siblings, expanding the phenotype of PIGC deficiency.
    Pons L, Sabatier I, Alix E, Faoucher M, Labalme A, Sanlaville D, Lesca G.
    Eur J Med Genet; 2020 Oct 13; 63(10):103994. PubMed ID: 32707268
    [Abstract] [Full Text] [Related]

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