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

From Wikidata

Jump to navigation Jump to search

scientific article

edit

Language	Label	Description	Also known as
English	Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations	scientific article

Statements

instance of

scholarly article

0 references

title

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

0 references

main subject

deafness

1 reference

based on heuristic

inferred from title

author

Eamonn Sheridan

series ordinal

29

0 references

Dorothy Thompson

series ordinal

13

object named as

Dorothy Thompson

0 references

Richard Warth

object named as

Richard Warth

series ordinal

28

0 references

Mauricio Arcos-Burgos

object named as

Mauricio Arcos-Burgos

series ordinal

24

0 references

Mark A Knepper

series ordinal

25

object named as

Mark A Knepper

0 references

Robert Kleta

series ordinal

30

object named as

Robert Kleta

0 references

Horia C Stanescu

series ordinal

3

object named as

Horia C Stanescu

0 references

Anselm A Zdebik

series ordinal

5

object named as

Anselm A Zdebik

0 references

Enriko Klootwijk

series ordinal

20

object named as

Enriko Klootwijk

0 references

Markus Reichold

series ordinal

6

object named as

Markus Reichold

0 references

author name string

Detlef Bockenhauer

series ordinal

1

0 references

Sally Feather

series ordinal

2

0 references

Sascha Bandulik

series ordinal

4

0 references

Jonathan Tobin

series ordinal

7

0 references

Evelyn Lieberer

series ordinal

8

0 references

Christina Sterner

series ordinal

9

0 references

Guida Landoure

series ordinal

10

0 references

Ruchi Arora

series ordinal

11

0 references

Tony Sirimanna

series ordinal

12

0 references

J Helen Cross

series ordinal

14

0 references

William van't Hoff

series ordinal

15

0 references

Omar Al Masri

series ordinal

16

0 references

Kjell Tullus

series ordinal

17

0 references

Stella Yeung

series ordinal

18

0 references

Yair Anikster

series ordinal

19

0 references

Mike Hubank

series ordinal

21

0 references

Michael J Dillon

series ordinal

22

0 references

Dirk Heitzmann

series ordinal

23

0 references

Angus Dobbie

series ordinal

26

0 references

William A Gahl

series ordinal

27

0 references

language of work or name

English

0 references

publication date

7 May 2009

0 references

published in

The New England Journal of Medicine

0 references

volume

360

0 references

issue

19

0 references

page(s)

1960-70

0 references

cites work

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

Salt wasting and deafness resulting from mutations in two chloride channels

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

A panoramic view of gene expression in the human kidney

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

Detection and integration of genotyping errors in statistical genetics

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

The physiology of neuroglial cells

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

30 May 2018

Determinants of anion-proton coupling in mammalian endosomal CLC proteins

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

28 November 2018

New treatment options for Bartter's syndrome

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rescue of the mineralocorticoid receptor knock-out mouse

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The nature of the frog skin potential

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HaploPainter: a tool for drawing pedigrees with complex haplotypes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Bartter syndromes and other salt-losing tubulopathies

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19420365

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1056/NEJMOA0810276

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

287269

OpenCitations bibliographic resource ID

287269

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

287269

PMC publication ID

3398803

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

287269

PubMed publication ID

19420365

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

287269

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q24631051&oldid=1774429333"