Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. (Q37301176)

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4 February 2020

title

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

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4 February 2020

main subject

nonsyndromic deafness

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1 reference

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4 February 2020

Inna A Belyantseva

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4 February 2020

Thomas B Friedman

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4 February 2020

Saima Riazuddin

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4 February 2020

Sheikh Riazuddin

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4 February 2020

Saima Anwar

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4 February 2020

Penelope L Friedman

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4 February 2020

Tayyab Husnain

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4 February 2020

Ahmad U Zafar

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4 February 2020

Martin Fischer

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4 February 2020

Zubair M Ahmed

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4 February 2020

Shahid Y Khan

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4 February 2020

Audrey G H Janssen

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4 February 2020

Ute Scholl

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language of work or name

English

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publication date

30 July 2009

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American Journal of Human Genetics

4 February 2020

published in

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volume

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issue

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page(s)

273-280

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

4 February 2020

cites work

1 reference

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

6 September 2017

1 reference

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Barttin modulates trafficking and function of ClC-K channels

6 September 2017

1 reference

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Salt wasting and deafness resulting from mutations in two chloride channels

6 September 2017

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

6 September 2017

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6 September 2017

1 reference

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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

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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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

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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

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

6 September 2017

1 reference

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Disease-causing dysfunctions of barttin in Bartter syndrome type IV

14 September 2017

1 reference

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

14 September 2017

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Ion channels. Analysis of nonstationary single-channel currents

14 September 2017

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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

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

2 September 2018

1 reference

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

2 September 2018

1 reference

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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

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4 February 2020

1 reference

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4 February 2020

PubMed publication ID

19646679

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