KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function (Q28506527)

GOA release 2020-03-11

1 reference

1 reference

17

Richard Warth

1 reference

24 January 2017

15

Robert Kleta

1 reference

24 January 2017

16

Detlef Bockenhauer

1 reference

24 January 2017

2

Anselm A. Zdebik

1 reference

24 January 2017

1

Markus Reichold

1 reference

24 January 2017

Evelyn Lieberer

3

1 reference

24 January 2017

Markus Rapedius

4

1 reference

24 January 2017

Katharina Schmidt

5

1 reference

24 January 2017

Sascha Bandulik

6

1 reference

24 January 2017

Christina Sterner

7

1 reference

24 January 2017

Ines Tegtmeier

8

1 reference

24 January 2017

David Penton

9

1 reference

24 January 2017

Thomas Baukrowitz

10

1 reference

24 January 2017

Sally-Anne Hulton

11

1 reference

24 January 2017

Ralph Witzgall

12

1 reference

24 January 2017

Bruria Ben-Zeev

13

1 reference

24 January 2017

Alexander J. Howie

Proceedings of the National Academy of Sciences of the United States of America

14

1 reference

24 January 2017

language of work or name

English

0 references

publication date

10 August 2010

1 reference

24 January 2017

1 reference

24 January 2017

107

1 reference

24 January 2017

14490–14495

1 reference

24 January 2017

32

1 reference

24 January 2017

Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

Identification of domains that control the heteromeric assembly of Kir5.1/Kir4.0 potassium channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

Differential pH sensitivity of Kir4.1 and Kir4.2 potassium channels and their modulation by heteropolymerisation with Kir5.1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

Cloning and expression of an inwardly rectifying ATP-regulated potassium channel

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

Regulation of magnesium reabsorption in DCT.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

A trail of research on potassium

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

The thiazide-sensitive Na-Cl cotransporter is an aldosterone-induced protein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

Direct activation of inward rectifier potassium channels by PIP2 and its stabilization by Gbetagamma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

2 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003072107

Altered renal distal tubule structure and renal Na(+) and Ca(2+) handling in a mouse model for Gitelman's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003072107

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/10.1073%2FPNAS.1003072107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003072107

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/10.1073%2FPNAS.1003072107

Control of pH and PIP2 gating in heteromeric Kir4.1/Kir5.1 channels by H-Bonding at the helix-bundle crossing

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003072107

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.1003072107

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/10.1073%2FPNAS.1003072107

Vasopressin increases Na-K-2Cl cotransporter expression in thick ascending limb of Henle's loop.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2922599

The luminal K+ channel of the thick ascending limb of Henle's loop

27 November 2018

1 reference

12 December 2020

Coupling between transepithelial Na transport and basolateral K conductance in renal proximal tubule

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

Pump-leak parallelism in sodium-absorbing epithelia: the role of ATP-regulated potassium channels

1 reference

12 December 2020

The nature of the frog skin potential

1 reference

12 December 2020

Bartter syndromes and other salt-losing tubulopathies

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

Identifiers

DOI

10.1073/PNAS.1003072107

1 reference

1343116

ADS bibcode

2010PNAS..10714490R

0 references

1343116

1 reference

1 reference

1 reference