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Items: 1 to 20 of 125

1.

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 7;360(19):1960-70. doi: 10.1056/NEJMoa0810276.

2.

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. doi: 10.1073/pnas.1003072107. Epub 2010 Jul 22.

3.

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. doi: 10.1242/dmm.009480. Epub 2013 Feb 14.

4.

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. doi: 10.1159/000330250. Epub 2011 Aug 18.

PMID:
21849804
5.

The EAST syndrome and KCNJ10 mutations.

Shi M, Zhao G.

N Engl J Med. 2009 Aug 6;361(6):630; author reply 630-1. doi: 10.1056/NEJMc091202. No abstract available.

6.

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 7;106(14):5842-7. doi: 10.1073/pnas.0901749106. Epub 2009 Mar 16.

7.

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;461(4):423-35. doi: 10.1007/s00424-010-0915-0. Epub 2011 Jan 11. Review.

PMID:
21221631
8.

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. doi: 10.1159/000356353. Epub 2013 Nov 2.

9.

Membrane physiology--bridging the gap between medical disciplines.

Bleich M.

N Engl J Med. 2009 May 7;360(19):2012-4. doi: 10.1056/NEJMe0901812. No abstract available.

PMID:
19420371
10.

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 1;589(Pt 7):1681-9. doi: 10.1113/jphysiol.2010.198531. Epub 2011 Feb 7.

11.

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;55(9):846-56. doi: 10.1111/dmcn.12171.

12.

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. doi: 10.1073/pnas.1101400108. Epub 2011 Jun 1.

13.

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness.

Jeck N, Reinalter SC, Henne T, Marg W, Mallmann R, Pasel K, Vollmer M, Klaus G, Leonhardt A, Seyberth HW, Konrad M.

Pediatrics. 2001 Jul;108(1):E5.

PMID:
11433084
14.

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.

Landa P, Differ AM, Rajput K, Jenkins L, Bitner-Glindzicz M.

BMC Med Genet. 2013 Aug 21;14:85. doi: 10.1186/1471-2350-14-85.

15.

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;27(11):2081-90. doi: 10.1007/s00467-012-2219-4. Epub 2012 Aug 21.

PMID:
22907601
16.

[EAST/SeSAME syndrome and functional expression of inward rectifier potassium channel Kir4.1 in the inner ear].

Chen J, Zhao H.

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2015 Jul;29(14):1318-22. Chinese.

PMID:
26672256
17.

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. doi: 10.1681/ASN.2009121227. Epub 2010 Nov 18.

18.

Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

Yang T, Gurrola JG 2nd, Wu H, Chiu SM, Wangemann P, Snyder PM, Smith RJ.

Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.

19.

Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.

Rehman AU, Santos-Cortez RL, Morell RJ, Drummond MC, Ito T, Lee K, Khan AA, Basra MA, Wasif N, Ayub M, Ali RA, Raza SI; University of Washington Center for Mendelian Genomics, Nickerson DA, Shendure J, Bamshad M, Riazuddin S, Billington N, Khan SN, Friedman PL, Griffith AJ, Ahmad W, Riazuddin S, Leal SM, Friedman TB.

Am J Hum Genet. 2014 Jan 2;94(1):144-52. doi: 10.1016/j.ajhg.2013.12.004.

20.

Screening of SLC26A4, FOXI1, KCNJ10, and GJB2 in bilateral deafness patients with inner ear malformation.

Chen K, Wang X, Sun L, Jiang H.

Otolaryngol Head Neck Surg. 2012 Jun;146(6):972-8. doi: 10.1177/0194599812439670. Epub 2012 Mar 12.

PMID:
22412181
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