Associated Papers
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.
Wojciechowski D et al.
The Journal of Biological Chemistry, 2018
Bartter syndrome: causes, diagnosis, and treatment.
Cunha TDS et al.
International Journal of Nephrology and Renovascular Disease, 2018
Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.
Nomura N et al.
Biochemical and Biophysical Research Communications, 2013
Physiology and pathophysiology of ClC-K/barttin channels.
Fahlke C et al.
Frontiers in Physiology, 2010
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
Bircan Z et al.
Pediatric Nephrology (berlin, Germany), 2009
Disease-causing dysfunctions of barttin in Bartter syndrome type IV.
Janssen AG et al.
Journal of the American Society of Nephrology : Jasn, 2009
A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.
Kitanaka S et al.
Pediatric Nephrology (berlin, Germany), 2006
Cochlear implantation in children with Bartter syndrome: A case report.
Badr KM et al.
Science Progress, 0
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