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XB--489651
Papers associated with slc12a2 (and Disease Ontology)
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SLC12A2 variants cause a neurodevelopmental disorder or cochleovestibular defect., McNeill A, Iovino E, Mansard L, Vache C, Baux D, Bedoukian E, Cox H, Dean J, Goudie D, Kumar A, Newbury-Ecob R, Fallerini C, Renieri A, Lopergolo D, Mari F, Blanchet C, Willems M, Roux AF, Pippucci T, Delpire E., Brain. August 1, 2020; 143 (8): 2380-2387. |
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A novel GABAergic dysfunction in human Dravet syndrome., Ruffolo G, Cifelli P, Roseti C, Thom M, van Vliet EA, Limatola C, Aronica E, Palma E., Epilepsia. November 1, 2018; 59 (11): 2106-2117. |
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Functional aspects of early brain development are preserved in tuberous sclerosis complex (TSC) epileptogenic lesions., Ruffolo G, Iyer A, Cifelli P, Roseti C, Mühlebner A, van Scheppingen J, Scholl T, Hainfellner JA, Feucht M, Krsek P, Zamecnik J, Jansen FE, Spliet WG, Limatola C, Aronica E, Palma E., Neurobiol Dis. November 1, 2016; 95 93-101. |
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The search for NKCC1-selective drugs for the treatment of epilepsy: Structure-function relationship of bumetanide and various bumetanide derivatives in inhibiting the human cation-chloride cotransporter NKCC1A., Lykke K, Töllner K, Feit PW, Erker T, MacAulay N, Löscher W., Epilepsy Behav. June 1, 2016; 59 42-9. |
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The Na+:Cl- cotransporter is activated and phosphorylated at the amino-terminal domain upon intracellular chloride depletion., Pacheco-Alvarez D, Cristóbal PS, Meade P, Moreno E, Vazquez N, Muñoz E, Díaz A, Juárez ME, Giménez I, Gamba G., J Biol Chem. September 29, 2006; 281 (39): 28755-63. |
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WNK3 bypasses the tonicity requirement for K-Cl cotransporter activation via a phosphatase-dependent pathway., de Los Heros P, Kahle KT, Rinehart J, Bobadilla NA, Vázquez N, San Cristobal P, Mount DB, Lifton RP, Hebert SC, Gamba G., Proc Natl Acad Sci U S A. February 7, 2006; 103 (6): 1976-81. |
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WNK3 modulates transport of Cl- in and out of cells: implications for control of cell volume and neuronal excitability., Kahle KT, Rinehart J, de Los Heros P, Louvi A, Meade P, Vazquez N, Hebert SC, Gamba G, Gimenez I, Lifton RP., Proc Natl Acad Sci U S A. November 15, 2005; 102 (46): 16783-8. |
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WNK4 regulates apical and basolateral Cl- flux in extrarenal epithelia., Kahle KT, Gimenez I, Hassan H, Wilson FH, Wong RD, Forbush B, Aronson PS, Lifton RP., Proc Natl Acad Sci U S A. February 17, 2004; 101 (7): 2064-9. |
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