EAST syndrome

Literature (4)

Literature for DOID 0060484: EAST syndrome

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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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. May 7, 2009; 360(19):1533-4406.
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. December 1, 2010; 21(12):1533-3450.
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. January 1, 2013; 123(3-4):1660-2137.
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. May 1, 2013; 6(3):1754-8411.

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. May 7, 2009; 360(19):1533-4406.

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. December 1, 2010; 21(12):1533-3450.

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. January 1, 2013; 123(3-4):1660-2137.

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. May 1, 2013; 6(3):1754-8411.