Associated Papers
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Lo J et al.
Frontiers in Physiology, 2022
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Morin M et al.
Neurogenetics, 2020
The role of glial-specific Kir4.1 in normal and pathological states of the CNS.
Nwaobi SE et al.
Acta Neuropathologica, 2016
Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1.
Méndez-González MP et al.
The Journal of Biological Chemistry, 2016
The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.
Chen J et al.
Neuroscience, 2014
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndrome.
Tanemoto M et al.
Febs Letters, 2014
Genetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a review.
Pattnaik BR et al.
Molecular Genetics and Metabolism, 2012
The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.
Bandulik S et al.
Pflugers Archiv : European Journal of Physiology, 2011
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10).
Sala-Rabanal M et al.
The Journal of Biological Chemistry, 2010
Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.
Tang X et al.
Biochemical and Biophysical Research Communications, 2010
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