BSND: Difference between revisions
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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]].<ref name="entrez">{{cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = }}</ref> | '''Bartter syndrome, infantile, with sensorineural deafness (Barttin)''', also known as '''BSND''', is a human [[gene]] which is associated with [[Bartter syndrome]].<ref name="entrez">{{cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = }}</ref> | ||
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| 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.<ref name="entrez">{{cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = }}</ref> | | 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]].<ref name="entrez">{{cite web | title = Entrez Gene: BSND Bartter syndrome, infantile, with sensorineural deafness (Barttin)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=7809| accessdate = }}</ref> | ||
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*{{cite journal | vauthors=Birkenhäger R, Otto E, Schürmann MJ |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 |display-authors=etal}} | *{{cite journal | vauthors=Birkenhäger R, Otto E, Schürmann MJ |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 |display-authors=etal}} | ||
*{{cite journal | vauthors=Estévez R, Boettger T, Stein V |title=Barttin is a Cl<sup>−</sup> channel beta-subunit crucial for renal Cl<sup>−</sup> reabsorption and inner ear K<sup>+</sup> secretion. |journal=Nature |volume=414 |issue= 6863 |pages= 558–61 |year= 2001 |pmid= 11734858 |doi= 10.1038/35107099 |display-authors=etal}} | *{{cite journal | vauthors=Estévez R, Boettger T, Stein V |title=Barttin is a Cl<sup>−</sup> channel beta-subunit crucial for renal Cl<sup>−</sup> reabsorption and inner ear K<sup>+</sup> secretion. |journal=Nature |volume=414 |issue= 6863 |pages= 558–61 |year= 2001 |pmid= 11734858 |doi= 10.1038/35107099 |display-authors=etal}} | ||
*{{cite journal | vauthors=Waldegger S, Jeck N, Barth P |title=Barttin increases surface expression and changes current properties of ClC-K channels. |journal= | *{{cite journal | vauthors=Waldegger S, Jeck N, Barth P |title=Barttin increases surface expression and changes current properties of ClC-K channels. |journal=Pflügers Arch. |volume=444 |issue= 3 |pages= 411–8 |year= 2003 |pmid= 12111250 |doi= 10.1007/s00424-002-0819-8 |display-authors=etal}} | ||
*{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |display-authors=etal}} | *{{cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |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 | pmc=139241 |display-authors=etal}} | ||
*{{cite journal | vauthors=Miyamura N, Matsumoto K, Taguchi T |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=10.1210/jc.2002-021398 |display-authors=etal}} | *{{cite journal | vauthors=Miyamura N, Matsumoto K, Taguchi T |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=10.1210/jc.2002-021398 |display-authors=etal}} | ||
Latest revision as of 15:59, 29 June 2018
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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
- 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". Pflügers 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.
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