The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel (Q37827380)

23 August 2017

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title

The salt-wasting phenotype of EAST syndrome, a disease with multifaceted symptoms linked to the KCNJ10 K+ channel (English)

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23 August 2017

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7

Richard Warth

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23 August 2017

6

Robert Kleta

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23 August 2017

3

Detlef Bockenhauer

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23 August 2017

4

Anselm A Zdebik

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23 August 2017

8

Markus Reichold

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23 August 2017

Sascha Bandulik

1

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23 August 2017

Katharina Schmidt

series ordinal

2

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23 August 2017

Evelyn Humberg

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5

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23 August 2017

language of work or name

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11 January 2011

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23 August 2017

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23 August 2017

461

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23 August 2017

423-435

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23 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/s00424-010-0915-0

23 August 2017

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Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia

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A missense mutation in the Kv1.1 voltage-gated potassium channel-encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia

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The cortical thick ascending limb and early distal convoluted tubule in the urinary concentrating mechanism

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21 January 2018

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WNK4 regulates the balance between renal NaCl reabsorption and K+ secretion

21 January 2018

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Regulation of diverse ion transport pathways by WNK4 kinase: a novel molecular switch

21 January 2018

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Kir potassium channel subunit expression in retinal glial cells: implications for spatial potassium buffering

21 January 2018

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21 January 2018

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21 January 2018

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Phosphatidylinositol 4,5-bisphosphate and intracellular pH regulate the ROMK1 potassium channel via separate but interrelated mechanisms.

21 January 2018

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21 January 2018

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21 January 2018

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KCNJ10 (Kir4.1) potassium channel knockout abolishes endocochlear potential

21 January 2018

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Dominant isolated renal magnesium loss is caused by misrouting of the Na+,K+-ATPase gamma-subunit

21 January 2018

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Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit

21 January 2018

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The acidic motif of WNK4 is crucial for its interaction with the K channel ROMK

21 January 2018

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Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

21 January 2018

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Developmental seizure susceptibility of kv1.1 potassium channel knockout mice

21 January 2018

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21 January 2018

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Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10)

21 January 2018

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Genetic disorders of renal electrolyte transport

21 January 2018

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Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family

21 January 2018

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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

21 January 2018

1 reference

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pH gating of ROMK (K(ir)1.1) channels: control by an Arg-Lys-Arg triad disrupted in antenatal Bartter syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Phosphatidylinositol 4,5-bisphosphate (PIP2) modulation of ATP and pH sensitivity in Kir channels. A tale of an active and a silent PIP2 site in the N terminus

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

PDZ-binding and di-hydrophobic motifs regulate distribution of Kir4.1 channels in renal cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

PDZ binding motif-dependent localization of K+ channel on the basolateral side in distal tubules.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

PSD-95 mediates formation of a functional homomeric Kir5.1 channel in the brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

In vivo formation of a proton-sensitive K+ channel by heteromeric subunit assembly of Kir5.1 with Kir4.1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Variable loss of Kir4.1 channel function in SeSAME syndrome mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

pH dependence of the inwardly rectifying potassium channel, Kir5.1, and localization in renal tubular epithelia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

KCNQ1-dependent transport in renal and gastrointestinal epithelia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Association between activating mutations of calcium-sensing receptor and Bartter's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Human hypertension caused by mutations in WNK kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Regulation of magnesium reabsorption in DCT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Modulation of kir4.1 and kir5.1 by hypercapnia and intracellular acidosis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Opposite effects of pH on open-state probability and single channel conductance of kir4.1 channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Biophysical and molecular mechanisms underlying the modulation of heteromeric Kir4.1-Kir5.1 channels by CO2 and pH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Potassium ion movement in the inner ear: insights from genetic disease and mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes [published e

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00424-010-0915-0

Functional Characterization of a Calcium-Sensing Receptor Mutation in Severe Autosomal Dominant Hypocalcemia with a Bartter-Like Syndrome

21 January 2018

1 reference

12 December 2020

Effect of nerve impulses on the membrane potential of glial cells in the central nervous system of amphibia

1 reference

12 December 2020

Cytochrome P-450 metabolites mediate extracellular Ca(2+)-induced inhibition of apical K+ channels in the TAL.

1 reference

12 December 2020

Kir4.1/Kir5.1 channel forms the major K+ channel in the basolateral membrane of mouse renal collecting duct principal cells

1 reference

12 December 2020

Localization of epithelial sodium channel and aquaporin-2 in rabbit kidney cortex

1 reference

12 December 2020

Subunit positional effects revealed by novel heteromeric inwardly rectifying K+ channels

1 reference

12 December 2020

Magnesium transport in the renal distal convoluted tubule

1 reference

12 December 2020

Expression of the thiazide-sensitive Na-Cl cotransporter in rat and human kidney

1 reference

12 December 2020

Structural and functional analysis of the putative pH sensor in the Kir1.1 (ROMK) potassium channel

1 reference

12 December 2020

The nature of the frog skin potential

1 reference

12 December 2020

Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes

1 reference

12 December 2020

Mammalian distal tubule: physiology, pathophysiology, and molecular anatomy

1 reference

12 December 2020

Phenotype resembling Gitelman's syndrome in mice lacking the apical Na+-Cl- cotransporter of the distal convoluted tubule

1 reference

12 December 2020

Developmental pattern of water and electrolyte transport in rat superficial nephrons.

1 reference

12 December 2020

Identification of a titratable lysine residue that determines sensitivity of kidney potassium channels (ROMK) to intracellular pH.

1 reference

12 December 2020

pH-dependent modulation of the cloned renal K+ channel, ROMK.

1 reference

12 December 2020

Bartter syndromes and other salt-losing tubulopathies

1 reference

12 December 2020

TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure

1 reference

12 December 2020

Distribution of transcellular calcium and sodium transport pathways along mouse distal nephron

1 reference

12 December 2020

Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia

1 reference

12 December 2020

Expression and insights on function of potassium channel TWIK-1 in mouse kidney

1 reference

12 December 2020

Cellular distribution of the potassium channel KCNQ1 in normal mouse kidney

1 reference

12 December 2020

A new familial disorder characterized by hypokalemia and hypomagnesemia

1 reference

12 December 2020

Localization of the ROMK protein on apical membranes of rat kidney nephron segments.

1 reference

12 December 2020

10.1007/S00424-010-0915-0

Identifiers

DOI

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23 August 2017

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