(Q37301176)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

title

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

main subject

nonsyndromic deafness

1 reference

1 reference

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

10

Inna A Belyantseva

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

13

Thomas B Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1

Saima Riazuddin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

12

Sheikh Riazuddin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

2

Saima Anwar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

11

Penelope L Friedman

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

9

Tayyab Husnain

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

7

Ahmad U Zafar

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

author name string

Martin Fischer

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Zubair M Ahmed

4

1 reference

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4 February 2020

Shahid Y Khan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Audrey G H Janssen

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

Ute Scholl

8

1 reference

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4 February 2020

language of work or name

English

0 references

publication date

30 July 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

4 February 2020

published in

1 reference

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4 February 2020

volume

85

1 reference

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4 February 2020

issue

2

1 reference

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4 February 2020

page(s)

273-280

1 reference

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Endocochlear potential depends on Cl- channels: mechanism underlying deafness in Bartter syndrome IV.

4 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Barttin modulates trafficking and function of ClC-K channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Salt wasting and deafness resulting from mutations in two chloride channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Barttin increases surface expression and changes current properties of ClC-K channels

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Single-channel characteristics of wild-type IKs channels and channels formed with two minK mutants that cause long QT syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Gating of human ClC-2 chloride channels and regulation by carboxy-terminal domains

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Disease-causing dysfunctions of barttin in Bartter syndrome type IV

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Neuronal glutamate transporters vary in substrate transport rate but not in unitary anion channel conductance

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Ion channels. Analysis of nonstationary single-channel currents

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Mapping sites of potential proximity between the dihydropyridine receptor and RyR1 in muscle using a cyan fluorescent protein-yellow fluorescent protein tandem as a fluorescence resonance energy transfer probe

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

The neonatal variant of Bartter syndrome and deafness: preservation of renal function

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2725234

Infantile variant of Bartter syndrome and sensorineural deafness: a new autosomal recessive disorder

2 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19646679

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2009.07.003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19646679%20AND%20SRC:MED&resulttype=core&format=json

4 February 2020

PubMed publication ID

19646679

1 reference