Genes > BSND >

References

These sources were used to develop the Genetics Home Reference gene summary on the BSND gene.

Birkenhäger R, Otto E, Schürmann MJ, Vollmer M, Ruf EM, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford DV, Jeck N, Konrad M, Landau D, Knoers NV, Antignac C, Sudbrak R, Kispert A, Hildebrandt F. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure. Nat Genet. 2001 Nov;29(3):310-4. PubMed citation
Entrez Gene
Estévez R, Boettger T, Stein V, Birkenhäger R, Otto E, Hildebrandt F, Jentsch TJ. Barttin is a Cl- channel beta-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion. Nature. 2001 Nov 29;414(6863):558-61. PubMed citation
Hayama A, Rai T, Sasaki S, Uchida S. Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene. Histochem Cell Biol. 2003 Jun;119(6):485-93. Epub 2003 May 22. PubMed citation
Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C. Disease-causing dysfunctions of barttin in Bartter syndrome type IV. J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub 2008 Sep 5. PubMed citation
Krämer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. Review. PubMed citation
Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E. 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. 2003 Feb;88(2):781-6. PubMed citation
Riazuddin S, Anwar S, Fischer M, Ahmed ZM, Khan SY, Janssen AG, Zafar AU, Scholl U, Husnain T, Belyantseva IA, Friedman PL, Riazuddin S, Friedman TB, Fahlke C. Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30. PubMed citation
Scholl U, Hebeisen S, Janssen AG, Müller-Newen G, Alekov A, Fahlke C. Barttin modulates trafficking and function of ClC-K channels. Proc Natl Acad Sci U S A. 2006 Jul 25;103(30):11411-6. Epub 2006 Jul 18. PubMed citation


		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources