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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

Papers overview

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Highly Cited
2009
Highly Cited
2009
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
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
Human Bartter syndrome IV is an autosomal recessive disorder characterized by congenital deafness and severe renal salt and fluid… Expand
Review
2008
Review
2008
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
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 are characterized by hypokalemia, normal to low blood pressure and hypochloremic metabolic… Expand
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Highly Cited
2004
Highly Cited
2004
BACKGROUND ClC-Ka and ClC-Kb, chloride channels participating in renal tubular Cl- transport, require the coexpression of barttin… Expand
2004
2004
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
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
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification… Expand
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