SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Item
http://www.wikidata.org/entity/Q50429340
Mislocalization of K+ channels causes the renal salt wasting in EAST/SeSAME syndromeEAST syndrome: Clinical, pathophysiological, and genetic aspects of mutations in KCNJ10Ataxia.The role of an inwardly rectifying K(+) channel (Kir4.1) in the inner ear and hearing loss.Genetic causes of hypomagnesemia, a clinical overviewMolecular aspects of structure, gating, and physiology of pH-sensitive background K2P and Kir K+-transport channels.Inward-rectifying potassium channelopathies: new insights into disorders of sodium and potassium homeostasis.Inherited disorders of renal hypomagnesaemia.Founder mutation in KCNJ10 in Pakistani patients with EAST syndrome.Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with KCNJ10 mutations: A case report.Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the SLC12A3 Gene.Inhibition of Inwardly Rectifying Potassium (Kir) 4.1 Channels Facilitates Brain-Derived Neurotrophic Factor (BDNF) Expression in Astrocytes.Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities.The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
P2860

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule.

Item
http://www.wikidata.org/entity/Q50429340
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@en
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@nl
type
label
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@en
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@nl
prefLabel
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@en
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
SeSAME/EAST syndrome--phenotyp ...... the distal convoluted tubule.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P577
P698