Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations (Q24631051)

13

Dorothy Thompson

0 references

Richard Warth

Richard Warth

28

0 references

Mauricio Arcos-Burgos

Mauricio Arcos-Burgos

24

0 references

Mark A Knepper

25

Mark A Knepper

0 references

Robert Kleta

30

Robert Kleta

0 references

Horia C Stanescu

3

Horia C Stanescu

0 references

Anselm A Zdebik

5

Anselm A Zdebik

0 references

Enriko Klootwijk

20

Enriko Klootwijk

0 references

Markus Reichold

6

Markus Reichold

0 references

author name string

Detlef Bockenhauer

1

0 references

Sally Feather

2

0 references

Sascha Bandulik

4

0 references

Jonathan Tobin

7

0 references

Evelyn Lieberer

8

0 references

Christina Sterner

9

0 references

Guida Landoure

10

0 references

Ruchi Arora

11

0 references

Tony Sirimanna

12

0 references

J Helen Cross

14

0 references

William van't Hoff

15

0 references

Omar Al Masri

16

0 references

Kjell Tullus

17

0 references

Stella Yeung

18

0 references

Yair Anikster

19

0 references

Mike Hubank

21

0 references

Michael J Dillon

22

0 references

Dirk Heitzmann

23

0 references

Angus Dobbie

26

0 references

William A Gahl

The New England Journal of Medicine

27

0 references

language of work or name

English

0 references

publication date

7 May 2009

0 references

published in

0 references

volume

360

0 references

page(s)

1960-70

0 references

issue

19

0 references

cites work

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

The Structure of the Potassium Channel: Molecular Basis of K+ Conduction and Selectivity

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Association between variation in the human KCNJ10 potassium ion channel gene and seizure susceptibility

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Salt wasting and deafness resulting from mutations in two chloride channels

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Functional significance of channels and transporters expressed in the inner ear and kidney

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Mega2: data-handling for facilitating genetic linkage and association analyses

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

ALOHOMORA: a tool for linkage analysis using 10K SNP array data

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

A panoramic view of gene expression in the human kidney

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Genome scans for blood pressure and hypertension: the National Heart, Lung, and Blood Institute Family Heart Study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Detection and integration of genotyping errors in statistical genetics

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Genome-wide linkage analysis of systolic and diastolic blood pressure: the Québec Family Study

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

The physiology of neuroglial cells

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Basolateral K conductance: role in regulation of NaCl absorption and secretion

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

ATP is a coupling modulator of parallel Na,K-ATPase-K-channel activity in the renal proximal tubule

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Development of a test to evaluate the transtubular potassium concentration gradient in the cortical collecting duct in vivo

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Determinants of anion-proton coupling in mammalian endosomal CLC proteins

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Mapping the Genetic Determinants of Hypertension, Metabolic Diseases, and Related Phenotypes in the Lyon Hypertensive Rat

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Role of KCNE1-dependent K+ fluxes in mouse proximal tubule

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

Kir4.1 potassium channel subunit is crucial for oligodendrocyte development and in vivo myelination.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3398803

New treatment options for Bartter's syndrome

28 November 2018

1 reference

12 December 2020

A genome-wide linkage analysis investigating the determinants of blood pressure in whites and African Americans

1 reference

12 December 2020

K+ channel currents in basolateral membrane of distal convoluted tubule of rabbit kidney

1 reference

12 December 2020

Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK

1 reference

12 December 2020

Rescue of the mineralocorticoid receptor knock-out mouse

1 reference

12 December 2020

The nature of the frog skin potential

1 reference

12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

12 December 2020

Bartter syndromes and other salt-losing tubulopathies

1 reference

12 December 2020