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BSND gene

Known as: BSND, barttin CLCNK type accessory beta subunit, BARTTIN 
National Institutes of Health

Related topics

Related topics

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BARTTER SYNDROME, TYPE 4A

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
Significance Our current understanding of genetic disease is often inadequate, largely due to genetic background effects that… 
2015
2015
Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking*
Background: Carboxyl-terminal truncations of hClC-Kb cause Bartter syndrome. Results: hClC-Kb channels lacking the carboxyl… 
2015
2015
Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions*
Background: Barttin is an accessory subunit of renal and inner ear chloride channels. Results: Tryptophan insertion at multiple… 
2014
2014
Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.
Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and… 
2012
2012
Sepsis-induced urinary concentration defect is related to nitric oxide–dependent inactivation of TonEBP/NFAT5, which downregulates renal medullary solute transport proteins and aquaporin-2*
Objective:Acute kidney injury associated with reduced urinary concentration is a frequent and severe complication during sepsis… 
2007
2007
Barttin binds to the outer lateral surface of the ClC-K2 chloride channel.
2006
2006
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds
2004
2004
Investigations of pharmacologic properties of the renal CLC-K1 chloride channel co-expressed with barttin by the use of 2-(p-Chlorophenoxy)propionic acid derivatives and other structurally unrelated…
CLC-K chloride channels are expressed in the kidney, where they play a pivotal role in the mechanisms of urine concentration and… 
2003
2003
Do protection devices have a role in renal angioplasty and stent placement?
characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome… 
Highly Cited
2003
Highly Cited
2003
The neonatal variant of Bartter syndrome and deafness: preservation of renal function.
BACKGROUND A subtype of antenatal Bartter syndrome and sensorineural deafness (BSND) was originally described among families from… 
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