Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome (Q30539144)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23471908%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

title

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome (English)

1 reference

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Potassium inwardly-rectifying channel, subfamily J, member 10a

25 February 2020

main subject

Danio rerio

0 references

1 reference

GOA release 2020-03-11

1 reference

1 reference

1

1 reference

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25 February 2020

Claire Russell

9

1 reference

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25 February 2020

7

Robert Kleta

1 reference

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25 February 2020

8

Detlef Bockenhauer

1 reference

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25 February 2020

4

Horia C Stanescu

1 reference

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25 February 2020

3

Anselm A Zdebik

1 reference

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25 February 2020

author name string

Monika Mozere

2

1 reference

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25 February 2020

Jonathan Tobin

5

1 reference

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25 February 2020

Philip L Beales

6

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25 February 2020

publication date

14 February 2013

1 reference

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Disease Models & Mechanisms

25 February 2020

published in

1 reference

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25 February 2020

volume

6

1 reference

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25 February 2020

issue

3

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25 February 2020

page(s)

652-660

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Creative Commons Attribution 2.0 Generic

25 February 2020

copyright license

start time

18 May 2021

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Functional implications for Kir4.1 channels in glial biology: from K+ buffering to cell differentiation

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Kidney development and disease in the zebrafish

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Zebrafish as a model for hearing and deafness.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

A nodal signaling pathway regulates the laterality of neuroanatomical asymmetries in the zebrafish forebrain.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Expression of an inwardly rectifying K(+) channel, Kir4.1, in satellite cells of rat cochlear ganglia

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

An ATP-dependent inwardly rectifying potassium channel, KAB-2 (Kir4. 1), in cochlear stria vascularis of inner ear: its specific subcellular localization and correlation with the formation of endocochlear potential.

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Evidence that compromised K+ spatial buffering contributes to the epileptogenic effect of mutations in the human Kir4.1 gene (KCNJ10).

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Functional and developmental expression of a zebrafish Kir1.1 (ROMK) potassium channel homologue Kcnj1.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

The EAST syndrome and KCNJ10 mutations.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Membrane physiology--bridging the gap between medical disciplines.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Determinants of anion-proton coupling in mammalian endosomal CLC proteins

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Rapid screening of glomerular slit diaphragm integrity in larval zebrafish

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Pentylenetetrazole induced changes in zebrafish behavior, neural activity and c-fos expression

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Zebrafish: a preclinical model for drug screening

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit.

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Regulatory gene expression boundaries demarcate sites of neuronal differentiation in the embryonic zebrafish forebrain

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Zebrafish as a model for studying genetic aspects of epilepsy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3634649

Expression of glial fibrillary acidic protein and its relation to tract formation in embryonic zebrafish (Danio rerio)

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23471908

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Bartter syndromes and other salt-losing tubulopathies

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23471908

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23471908

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1242/DMM.009480

1 reference

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25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23471908%20AND%20SRC:MED&resulttype=core&format=json

25 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23471908%20AND%20SRC:MED&resulttype=core&format=json