Biology:BSND
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Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[1]
This gene encodes an essential beta subunit for CLC chloride channels. These heteromeric channels localize to basolateral membranes of renal tubules and of potassium-secreting epithelia of the inner ear. Mutations in this gene have been associated with Bartter syndrome with sensorineural deafness.[1]
References
External links
- Human BSND genome location and BSND gene details page in the UCSC Genome Browser.
Further reading
- "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.". Nat. Genet. 29 (3): 310–4. 2001. doi:10.1038/ng752. PMID 11687798.
- "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion.". Nature 414 (6863): 558–61. 2001. doi:10.1038/35107099. PMID 11734858.
- "Barttin increases surface expression and changes current properties of ClC-K channels.". Pflügers Arch. 444 (3): 411–8. 2003. doi:10.1007/s00424-002-0819-8. PMID 12111250.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932.
- "Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.". J. Clin. Endocrinol. Metab. 88 (2): 781–6. 2003. doi:10.1210/jc.2002-021398. PMID 12574213.
- "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.". Histochem. Cell Biol. 119 (6): 485–93. 2004. doi:10.1007/s00418-003-0535-2. PMID 12761627.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.". Kidney Int. 66 (5): 1918–25. 2005. doi:10.1111/j.1523-1755.2004.00966.x. PMID 15496163.
- "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.". Pediatr. Nephrol. 21 (5): 643–8. 2006. doi:10.1007/s00467-006-0062-1. PMID 16572343.
- "Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.". Pediatr. Nephrol. 21 (7): 1056–7. 2006. doi:10.1007/s00467-006-0108-4. PMID 16773427.
- "Barttin modulates trafficking and function of ClC-K channels.". Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411–6. 2006. doi:10.1073/pnas.0601631103. PMID 16849430. Bibcode: 2006PNAS..10311411S.
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