BSND
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome.[3]
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.[3]
References
Further reading
- Birkenhäger R, Otto E, Schürmann MJ, et al. (2001). "Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.". Nat. Genet. 29 (3): 310–4. doi:10.1038/ng752. PMID 11687798.
- Estévez R, Boettger T, Stein V, et al. (2001). "Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion.". Nature. 414 (6863): 558–61. doi:10.1038/35107099. PMID 11734858.
- Waldegger S, Jeck N, Barth P, et al. (2003). "Barttin increases surface expression and changes current properties of ClC-K channels.". Pflugers Arch. 444 (3): 411–8. doi:10.1007/s00424-002-0819-8. PMID 12111250.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241
. PMID 12477932.
- Miyamura N, Matsumoto K, Taguchi T, et al. (2003). "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. doi:10.1210/jc.2002-021398. PMID 12574213.
- Hayama A, Rai T, Sasaki S, Uchida S (2004). "Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.". Histochem. Cell Biol. 119 (6): 485–93. doi:10.1007/s00418-003-0535-2. PMID 12761627.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Embark HM, Böhmer C, Palmada M, et al. (2005). "Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases.". Kidney Int. 66 (5): 1918–25. doi:10.1111/j.1523-1755.2004.00966.x. PMID 15496163.
- García-Nieto V, Flores C, Luis-Yanes MI, et al. (2006). "Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.". Pediatr. Nephrol. 21 (5): 643–8. doi:10.1007/s00467-006-0062-1. PMID 16572343.
- Ozlu F, Yapicioğlu H, Satar M, et al. (2006). "Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.". Pediatr. Nephrol. 21 (7): 1056–7. doi:10.1007/s00467-006-0108-4. PMID 16773427.
- Scholl U, Hebeisen S, Janssen AG, et al. (2006). "Barttin modulates trafficking and function of ClC-K channels.". Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411–6. doi:10.1073/pnas.0601631103. PMC 1544099. PMID 16849430.