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BARTTER SYNDROME, TYPE 4A

Known as: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS, BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS, BSND 
National Institutes of Health

Related topics

Related topics

15 relations
Autosomal recessive inheritanceBSND geneFailure to ThriveGenetic Heterogeneity

Broader (2)

Bartter DiseaseSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2017
Highly Cited
2017
Clinical and diagnostic features of Bartter and Gitelman syndromes
ABSTRACT Background Bartter and Gitelman syndromes are autosomal recessive disorders of renal tubular salt handling. Due to their… 
Highly Cited
2014
Highly Cited
2014
Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL) in Pakistan is 1.6/1000 individuals… 
Review
2010
Review
2010
Physiology and Pathophysiology of ClC-K/barttin Channels
ClC-K channels form a subgroup of anion channels within the ClC family of anion transport proteins. They are expressed… 
Highly Cited
2009
Highly Cited
2009
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
2006
2006
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV
Bartter syndrome is a genetic disorder with hypokalemic metabolic alkalosis and is classified into five types. Type IV Bartter… 
Review
2004
Review
2004
Bartter’s and Gitelman’s Syndromes: From Gene to Clinic
Bartter’s and Gitelman’s syndromes are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic… 
Highly Cited
2004
Highly Cited
2004
Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.
BACKGROUND ClC-Ka and ClC-Kb, chloride channels participating in renal tubular Cl- transport, require the coexpression of barttin… 
2004
2004
Mild Nephrogenic Diabetes Insipidus Caused by Foxa1 Deficiency*
Foxa1 is a member of the winged helix family of transcription factors and is expressed in the collecting ducts of the kidney. We… 
Highly Cited
2003
Highly Cited
2003
Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene
Barttin, a gene product of BSND, was identified as a fourth gene responsible for Bartter syndrome. The co-expression of barttin… 
Highly Cited
2002
Highly Cited
2002
Barttin increases surface expression and changes current properties of ClC-K channels
Abstract. The term Bartter syndrome encompasses a heterogeneous group of autosomal recessive salt-losing nephropathies that are… 
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