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BSND gene
Known as:
BSND
, barttin CLCNK type accessory beta subunit
, BARTTIN
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National Institutes of Health
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Related topics
Related topics
1 relation
BARTTER SYNDROME, TYPE 4A
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2014
Review
2014
CLC channel function and dysfunction in health and disease
Gabriel Stölting
,
M. Fischer
,
C. Fahlke
Frontiers in Physiology
2014
Corpus ID: 12408775
CLC channels and transporters are expressed in most tissues and fulfill diverse functions. There are four human CLC channels, ClC…
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Highly Cited
2013
Highly Cited
2013
Variable selection for BART: An application to gene regulation
J. Bleich
,
A. Kapelner
,
E. George
,
S. Jensen
2013
Corpus ID: 51994484
We consider the task of discovering gene regulatory networks, which are defined as sets of genes and the corresponding…
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Highly Cited
2009
Highly Cited
2009
Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.
S. Riazuddin
,
Saima Anwar
,
+11 authors
C. Fahlke
American Journal of Human Genetics
2009
Corpus ID: 23901052
Review
2008
Review
2008
CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology
T. Jentsch
Critical reviews in biochemistry and molecular…
2008
Corpus ID: 1292192
ABSTRACT CLC genes are expressed in species from bacteria to human and encode Cl−-channels or Cl−/H+-exchangers. CLC proteins…
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Review
2008
Review
2008
Genetic causes of hypercalciuric nephrolithiasis
M. Stechman
,
N. Loh
,
R. Thakker
Pediatric nephrology (Berlin, West)
2008
Corpus ID: 14572216
Renal stone disease (nephrolithiasis) affects 3–5% of the population and is often associated with hypercalciuria. Hypercalciuric…
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Review
2006
Review
2006
Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential
P. Wangemann
Journal of Physiology
2006
Corpus ID: 14239988
The exquisite sensitivity of the cochlea, which mediates the transduction of sound waves into nerve impulses, depends on the…
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Highly Cited
2006
Highly Cited
2006
Barttin modulates trafficking and function of ClC-K channels.
U. Scholl
,
S. Hebeisen
,
Audrey G H Janssen
,
G. Müller-Newen
,
Alexi K. Alekov
,
C. Fahlke
Proceedings of the National Academy of Sciences…
2006
Corpus ID: 281522
Barttin is an accessory subunit of a subgroup of ClC-type chloride channels expressed in renal and inner ear epithelia. In this…
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Highly Cited
2003
Highly Cited
2003
Updated Epstein-Barr virus (EBV) DNA sequence and analysis of a promoter for the BART (CST, BARF0) RNAs of EBV.
Orlando de Jesus
,
PaulR . Smith
,
+4 authors
P. Farrell
Journal of General Virology
2003
Corpus ID: 22762051
Two sequences required for activity of the Epstein-Barr virus BART RNA promoter in transfection assays have been identified by…
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Highly Cited
2002
Highly Cited
2002
Barttin increases surface expression and changes current properties of ClC-K channels
S. Waldegger
,
N. Jeck
,
+6 authors
H. Seyberth
Pflügers Archiv
2002
Corpus ID: 8546107
Abstract. The term Bartter syndrome encompasses a heterogeneous group of autosomal recessive salt-losing nephropathies that are…
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Highly Cited
2001
Highly Cited
2001
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure
R. Birkenhäger
,
E. Otto
,
+16 authors
F. Hildebrandt
Nature Genetics
2001
Corpus ID: 5892001
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification…
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