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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
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Broader (2)

Bartter DiseaseSensorineural Hearing Loss (disorder)

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2009
Highly Cited
2009
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
BSND encodes barttin, an accessory subunit of renal and inner ear chloride channels. To date, all mutations of BSND have been… Expand
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Highly Cited
2009
Highly Cited
2009
Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.
BACKGROUND Ante/neonatal Bartter syndrome (BS) is a hereditary salt-losing tubulopathy due to mutations in genes encoding… Expand
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Highly Cited
2008
Highly Cited
2008
Endocochlear potential depends on Cl− channels: mechanism underlying deafness in Bartter syndrome IV
Human Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid… Expand
Review
2008
Review
2008
Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance
Rodent ClC-K1 and ClC-K2, and their respective human orthologs ClCKA and ClCKB, are chloride channels specific to the kidney (and… Expand
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Highly Cited
2007
Highly Cited
2007
Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension.
Abnormal renal reabsorption of sodium (Na(+)) is likely to play a role in the pathogenesis of salt-sensitivity. In the kidney… Expand
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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… Expand
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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… Expand
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… Expand
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… Expand
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Highly Cited
2001
Highly Cited
2001
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification… Expand
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