- BSND
Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human
gene which is associated withBartter syndrome .cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = ]PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Birkenhäger R, Otto E, Schürmann MJ, "et al." |title=Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 310-4 |year= 2001 |pmid= 11687798 |doi= 10.1038/ng752
*cite journal | author=Estévez R, Boettger T, Stein V, "et al." |title=Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. |journal=Nature |volume=414 |issue= 6863 |pages= 558-61 |year= 2002 |pmid= 11734858 |doi= 10.1038/35107099
*cite journal | author=Waldegger S, Jeck N, Barth P, "et al." |title=Barttin increases surface expression and changes current properties of ClC-K channels. |journal=Pflugers Arch. |volume=444 |issue= 3 |pages= 411-8 |year= 2003 |pmid= 12111250 |doi= 10.1007/s00424-002-0819-8
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Miyamura N, Matsumoto K, Taguchi T, "et al." |title=Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin. |journal=J. Clin. Endocrinol. Metab. |volume=88 |issue= 2 |pages= 781-6 |year= 2003 |pmid= 12574213 |doi=
*cite journal | author=Hayama A, Rai T, Sasaki S, Uchida S |title=Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. |journal=Histochem. Cell Biol. |volume=119 |issue= 6 |pages= 485-93 |year= 2004 |pmid= 12761627 |doi= 10.1007/s00418-003-0535-2
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Embark HM, Böhmer C, Palmada M, "et al." |title=Regulation of CLC-Ka/barttin by the ubiquitin ligase Nedd4-2 and the serum- and glucocorticoid-dependent kinases. |journal=Kidney Int. |volume=66 |issue= 5 |pages= 1918-25 |year= 2005 |pmid= 15496163 |doi= 10.1111/j.1523-1755.2004.00966.x
*cite journal | author=García-Nieto V, Flores C, Luis-Yanes MI, "et al." |title=Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families. |journal=Pediatr. Nephrol. |volume=21 |issue= 5 |pages= 643-8 |year= 2006 |pmid= 16572343 |doi= 10.1007/s00467-006-0062-1
*cite journal | author=Ozlu F, Yapicioğlu H, Satar M, "et al." |title=Barttin mutations in antenatal Bartter syndrome with sensorineural deafness. |journal=Pediatr. Nephrol. |volume=21 |issue= 7 |pages= 1056-7 |year= 2006 |pmid= 16773427 |doi= 10.1007/s00467-006-0108-4
*cite journal | author=Scholl U, Hebeisen S, Janssen AG, "et al." |title=Barttin modulates trafficking and function of ClC-K channels. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=103 |issue= 30 |pages= 11411-6 |year= 2006 |pmid= 16849430 |doi= 10.1073/pnas.0601631103PBB_Controls
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