Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
about
Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitusMislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndromeEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10Therapeutic Approaches to Genetic Ion Channelopathies and Perspectives in Drug DiscoveryNew Insights on Astrocyte Ion Channels: Critical for Homeostasis and Neuron-Glia SignalingThe renal channelopathiesRole of astrocytes in epilepsyPotassium channel KIR4.1 as an immune target in multiple sclerosisMajor channels involved in neuropsychiatric disorders and therapeutic perspectivesThe role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).Genetic deletion of laminin isoforms β2 and γ3 induces a reduction in Kir4.1 and aquaporin-4 expression and function in the retinaMolecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathologyRenal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.Unidirectional photoreceptor-to-Müller glia coupling and unique K+ channel expression in Caiman retina.KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjectsGenetic defects in the hotspot of inwardly rectifying K(+) (Kir) channels and their metabolic consequences: a reviewRegulation of magnesium balance: lessons learned from human genetic diseaseOn potential interactions between non-selective cation channel TRPM4 and sulfonylurea receptor SUR1.Mapping a mouse limbic seizure susceptibility locus on chromosome 10Basolateral membrane K+ channels in renal epithelial cellsRole of a Hydrophobic Pocket in Polyamine Interactions with the Polyspecific Organic Cation Transporter OCT3Novel KCNJ10 Gene Variations Compromise Function of Inwardly Rectifying Potassium Channel 4.1.Polyamine transport by the polyspecific organic cation transporters OCT1, OCT2, and OCT3Secondary anionic phospholipid binding site and gating mechanism in Kir2.1 inward rectifier channels.A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping and in silico candidate gene analysis.The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel.Astrocyte dysfunction in temporal lobe epilepsy: K+ channels and gap junction coupling.Potassium channels: structures, diseases, and modulators.Mutational consequences of aberrant ion channels in neurological disorders.The role of glia in stress: polyamines and brain disordersThe role of glial-specific Kir4.1 in normal and pathological states of the CNS.Role and mechanisms of regulation of the basolateral Kir 4.1/Kir 5.1K+ channels in the distal tubules.Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.Kir4.1 K+ channels are regulated by external cations.Expressional analysis of the astrocytic Kir4.1 channel in a pilocarpine-induced temporal lobe epilepsy model.Genetics of Magnesium Disorders.Inhibition of Inwardly Rectifying Potassium (Kir) 4.1 Channels Facilitates Brain-Derived Neurotrophic Factor (BDNF) Expression in Astrocytes.The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
P2860
Q21203797-6F083A30-4B0D-475B-B894-70F3FF2DC483Q24338162-2316C506-B81B-4939-BA79-084D59BE1784Q26738592-371166EF-2BDC-4B2D-B228-C7A998059B8AQ26744730-F9F457BE-9656-4730-B02D-D26BD2281DBFQ26782952-2033FFA2-4F97-4A8D-A6F9-DB6B0D7C96A9Q26824023-0A7DE9D6-0F6E-43E9-9A3F-DD6CA2F01BAFQ26860292-C4B5C87E-BCB5-40D2-B16B-6E91E2CE2A49Q28270799-EF851D6A-F512-4B19-B090-13BC4F7D8FE0Q28290639-9E7DCA51-C555-458A-86FC-AAA5C476546AQ30414096-B29B5C34-5C3E-463B-99AC-008E9B70755CQ30837800-31E52CF7-AE34-4D90-B40C-70857A23556BQ33809095-708F4D9B-89AF-459A-8B96-A1FC61501AA4Q34800154-98BF86FE-DD19-4BD7-B439-3FE8B9C80731Q34981100-1C0B8B39-7BCB-49E9-B341-C1C288371363Q35064272-4298263C-971C-4F6F-81DF-37E001B138E1Q35169151-C7B85214-DFE6-4355-BD9F-11CEC4EF6165Q35395518-1C0DC445-7FE4-4023-8400-A8064CD8674AQ35661470-B36AB1DE-B84A-4B3E-9A48-67A678305862Q35683775-387A1B22-7BB3-4D76-BC02-95AF4B09906BQ35842007-98121321-C52A-445B-9686-FB5933BB1177Q35940537-B7929D50-7243-46A8-B81B-CDA056A5A12CQ35994501-4B318646-548D-45B0-A8E9-A5D4AF7C6A41Q36282875-B2CA294C-D539-4A5F-8F0D-239491C29C0DQ36755104-1DE303E8-EC39-49D8-9DE2-A17904C11DE5Q36784291-0C8D0690-9E6C-4317-8DAC-13AB0DBA24CCQ37403781-CBF7FD42-9F2F-4656-A839-C1A55B0BA2A3Q37626490-AE89E6B2-5918-4E8F-9B02-494D72777D44Q37827380-633C11EE-C6DA-4398-8E4C-1F8EF303A298Q37983519-BA388ACC-53AC-46EA-933C-C24385E19444Q38151974-0053B616-D4CD-4A8B-9B05-E5D4E82044EDQ38239544-BBAD0EC5-424A-4C2E-9E7E-00FE48ED58AAQ38278661-697E436B-9A31-4292-87E2-E2E6D2296BC9Q38767547-1A04A016-075C-413A-96D1-4651303C1D86Q38821145-12314940-8DCA-40C7-A46F-B8E20C2FCC6DQ39367404-105DA5C6-F089-4BDE-ACF6-2FE90AB93F70Q39430985-0E138D4B-42A0-4288-96E1-39678A60FD04Q42094622-DDEC68FB-5024-4D76-8A91-BBAA72E506A8Q47726302-EE9AD2AC-CDA0-4BA2-9F98-DB3A255FF54CQ47846065-FCFE5447-B34C-4ACE-A1D2-28F616232A5BQ48396163-A8A5B89F-149B-48A2-AD00-FFD529E6C248
P2860
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
description
2010 nî lūn-bûn
@nan
2010 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@ast
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@en
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1
@nl
type
label
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@ast
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@en
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1
@nl
prefLabel
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@ast
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@en
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1
@nl
P2093
P2860
P356
P1476
Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)
@en
P2093
Colin G Nichols
Lilia Y Kucheryavykh
Misty J Eaton
Monica Sala-Rabanal
Serguei N Skatchkov
P2860
P304
36040-36048
P356
10.1074/JBC.M110.163170
P407
P577
2010-08-31T00:00:00Z