Diferencia entre revisiones de «BSND»
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== Otras lecturas == |
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*{{cite journal | authors=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 |s2cid=5892001 |display-authors=etal}} |
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*{{cite journal | authors=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 |bibcode=2001Natur.414..558E |s2cid=4407807 |display-authors=etal}} |
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*{{cite journal | authors=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 |s2cid=8546107 |display-authors=etal}} |
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*{{cite journal | authors=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 |bibcode=2002PNAS...9916899M |display-authors=etal}} |
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*{{cite journal | authors=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|doi-access= |s2cid=28041186 }} |
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*{{cite journal | authors=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 |s2cid=24080298 }} |
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*{{cite journal | authors=Gerhard DS, Wagner L, Feingold EA |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 | pmc=528928 |display-authors=etal}} |
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*{{cite journal | authors=Embark HM, Böhmer C, Palmada M |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 |display-authors=etal}} |
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*{{cite journal | authors=García-Nieto V, Flores C, Luis-Yanes MI |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 |s2cid=24786634 |display-authors=etal}} |
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*{{cite journal | authors=Ozlu F, Yapicioğlu H, Satar M |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 |s2cid=13158377 |url=https://boris.unibe.ch/20925/ |display-authors=etal}} |
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*{{cite journal | authors=Scholl U, Hebeisen S, Janssen AG |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.0601631103 | pmc=1544099 |bibcode=2006PNAS..10311411S |display-authors=etal}} |
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[[Categoría:Genes del cromosoma 1]] |
[[Categoría:Genes del cromosoma 1]] |
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Revisión actual - 03:01 24 abr 2024
| BSND | ||
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| Identificadores | ||
El síndrome de Bartter infantil con sordera neurosensorial (Barttin), también conocido como BSND, es un gen humano que se asocia con el síndrome de Bartter. [1]
Este gen codifica una subunidad beta esencial para los canales de cloruro de CLC. Estos canales heteroméricos se localizan en las membranas basolaterales de los túbulos renales y en los epitelios secretores de potasio del oído interno. Las mutaciones en este gen se han asociado con el síndrome de Bartter con sordera neurosensorial. [1]
Referencias[editar]
Otras lecturas[editar]
- Birkenhäger R, Otto E, Schürmann MJ (2001). «Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.». Nat. Genet. 29 (3): 310-4. PMID 11687798. S2CID 5892001. doi:10.1038/ng752.
- Estévez R, Boettger T, Stein V (2001). «Barttin is a Cl− channel beta-subunit crucial for renal Cl− reabsorption and inner ear K+ secretion.». Nature 414 (6863): 558-61. Bibcode:2001Natur.414..558E. PMID 11734858. S2CID 4407807. doi:10.1038/35107099.
- Waldegger S, Jeck N, Barth P (2003). «Barttin increases surface expression and changes current properties of ClC-K channels.». Pflügers Arch. 444 (3): 411-8. PMID 12111250. S2CID 8546107. doi:10.1007/s00424-002-0819-8.
- Strausberg RL, Feingold EA, Grouse LH (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. Bibcode:2002PNAS...9916899M. PMC 139241. PMID 12477932. doi:10.1073/pnas.242603899.
- Miyamura N, Matsumoto K, Taguchi T (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. PMID 12574213. S2CID 28041186. doi:10.1210/jc.2002-021398.
- 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. PMID 12761627. S2CID 24080298. doi:10.1007/s00418-003-0535-2.
- Gerhard DS, Wagner L, Feingold EA (2004). «The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).». Genome Res. 14 (10B): 2121-7. PMC 528928. PMID 15489334. doi:10.1101/gr.2596504.
- Embark HM, Böhmer C, Palmada M (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. PMID 15496163. doi:10.1111/j.1523-1755.2004.00966.x.
- García-Nieto V, Flores C, Luis-Yanes MI (2006). «Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.». Pediatr. Nephrol. 21 (5): 643-8. PMID 16572343. S2CID 24786634. doi:10.1007/s00467-006-0062-1.
- Ozlu F, Yapicioğlu H, Satar M (2006). «Barttin mutations in antenatal Bartter syndrome with sensorineural deafness.». Pediatr. Nephrol. 21 (7): 1056-7. PMID 16773427. S2CID 13158377. doi:10.1007/s00467-006-0108-4.
- Scholl U, Hebeisen S, Janssen AG (2006). «Barttin modulates trafficking and function of ClC-K channels.». Proc. Natl. Acad. Sci. U.S.A. 103 (30): 11411-6. Bibcode:2006PNAS..10311411S. PMC 1544099. PMID 16849430. doi:10.1073/pnas.0601631103.
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Datos: Q18032616