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Items: 1 to 20 of 118

1.

Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.

Park CW, Lim JH, Youn DY, Chung S, Lim MH, Kim YK, Chang YS, Lee JH.

Clin Nephrol. 2011 Feb;75 Suppl 1:69-74.

PMID:
21269598
2.

Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families.

García-Nieto V, Flores C, Luis-Yanes MI, Gallego E, Villar J, Claverie-Martín F.

Pediatr Nephrol. 2006 May;21(5):643-8. Epub 2006 Mar 29.

PMID:
16572343
3.

Disease-causing dysfunctions of barttin in Bartter syndrome type IV.

Janssen AG, Scholl U, Domeyer C, Nothmann D, Leinenweber A, Fahlke C.

J Am Soc Nephrol. 2009 Jan;20(1):145-53. doi: 10.1681/ASN.2008010102. Epub 2008 Sep 5.

4.

A compound heterozygous mutation in the BSND gene detected in Bartter syndrome type IV.

Kitanaka S, Sato U, Maruyama K, Igarashi T.

Pediatr Nephrol. 2006 Feb;21(2):190-3. Epub 2005 Dec 3.

PMID:
16328537
5.

A case of antenatal Bartter syndrome with sensorineural deafness.

Lee HS, Cheong HI, Ki CS.

J Pediatr Endocrinol Metab. 2010 Oct;23(10):1077-81.

PMID:
21158220
6.

Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.

Miyamura N, Matsumoto K, Taguchi T, Tokunaga H, Nishikawa T, Nishida K, Toyonaga T, Sakakida M, Araki E.

J Clin Endocrinol Metab. 2003 Feb;88(2):781-6.

PMID:
12574213
7.

Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.

Hayama A, Rai T, Sasaki S, Uchida S.

Histochem Cell Biol. 2003 Jun;119(6):485-93. Epub 2003 May 22.

PMID:
12761627
8.

Generation and analyses of R8L barttin knockin mouse.

Nomura N, Tajima M, Sugawara N, Morimoto T, Kondo Y, Ohno M, Uchida K, Mutig K, Bachmann S, Soleimani M, Ohta E, Ohta A, Sohara E, Okado T, Rai T, Jentsch TJ, Sasaki S, Uchida S.

Am J Physiol Renal Physiol. 2011 Aug;301(2):F297-307. doi: 10.1152/ajprenal.00604.2010. Epub 2011 May 18.

9.

Barttin increases surface expression and changes current properties of ClC-K channels.

Waldegger S, Jeck N, Barth P, Peters M, Vitzthum H, Wolf K, Kurtz A, Konrad M, Seyberth HW.

Pflugers Arch. 2002 Jun;444(3):411-8. Epub 2002 Apr 9.

PMID:
12111250
10.

Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

de Pablos AL, García-Nieto V, López-Menchero JC, Ramos-Trujillo E, González-Acosta H, Claverie-Martín F.

Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.

PMID:
23110775
11.

Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.

Konrad M, Vollmer M, Lemmink HH, van den Heuvel LP, Jeck N, Vargas-Poussou R, Lakings A, Ruf R, Deschênes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.

J Am Soc Nephrol. 2000 Aug;11(8):1449-59.

12.

Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance.

Krämer BK, Bergler T, Stoelcker B, Waldegger S.

Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. Review.

PMID:
18094726
13.

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.

Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M.

J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.

PMID:
18310267
14.

Treatment with 17-allylamino-17-demethoxygeldanamycin ameliorated symptoms of Bartter syndrome type IV caused by mutated Bsnd in mice.

Nomura N, Kamiya K, Ikeda K, Yui N, Chiga M, Sohara E, Rai T, Sakaki S, Uchida S.

Biochem Biophys Res Commun. 2013 Nov 22;441(3):544-9. doi: 10.1016/j.bbrc.2013.10.129. Epub 2013 Nov 1.

PMID:
24189473
15.

Molecular basis of DFNB73: mutations of BSND can cause nonsyndromic deafness or Bartter syndrome.

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.

Am J Hum Genet. 2009 Aug;85(2):273-80. doi: 10.1016/j.ajhg.2009.07.003. Epub 2009 Jul 30.

16.

Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.

Bircan Z, Harputluoglu F, Jeck N.

Pediatr Nephrol. 2009 Apr;24(4):841-4. doi: 10.1007/s00467-008-1008-6. Epub 2008 Oct 9.

PMID:
18843510
17.

Phenotype-genotype correlation in antenatal and neonatal variants of Bartter syndrome.

Brochard K, Boyer O, Blanchard A, Loirat C, Niaudet P, Macher MA, Deschenes G, Bensman A, Decramer S, Cochat P, Morin D, Broux F, Caillez M, Guyot C, Novo R, Jeunemaître X, Vargas-Poussou R.

Nephrol Dial Transplant. 2009 May;24(5):1455-64. doi: 10.1093/ndt/gfn689. Epub 2008 Dec 18.

PMID:
19096086
18.

Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.

Pressler CA, Heinzinger J, Jeck N, Waldegger P, Pechmann U, Reinalter S, Konrad M, Beetz R, Seyberth HW, Waldegger S.

J Am Soc Nephrol. 2006 Aug;17(8):2136-42. Epub 2006 Jun 28.

19.

A novel CLCN5 mutation in a boy with Bartter-like syndrome and partial growth hormone deficiency.

Bogdanović R, Draaken M, Toromanović A, Dordević M, Stajić N, Ludwig M.

Pediatr Nephrol. 2010 Nov;25(11):2363-8. doi: 10.1007/s00467-010-1615-x. Epub 2010 Aug 1.

PMID:
20680351
20.

Unusual adult-onset manifestation of an attenuated Bartter's syndrome type IV renal phenotype caused by a mutation in BSND.

Brum S, Rueff J, Santos JR, Calado J.

Nephrol Dial Transplant. 2007 Jan;22(1):288-9. Epub 2006 Aug 25. No abstract available.

PMID:
16935888

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