| 1 | CLCNKB
|
| Effects of adenosine stimulation on the mRNA expression of CLCNKB in the basolateral medullary thick ascending limb of the rat kidney.
|
| Luan H, Wu P, Wang M, Sui H, Fan L, Gu R.
|
| Mol Med Rep 14(5):4391-4398. doi: 10.3892/mmr.2016.5781.
2016
|
| 2 | BSND3, CLCNKB
|
| Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
|
| Stölting G, Bungert-Plümke S, Franzen A, Fahlke C.
|
| J Biol Chem 290(51):30406-16. doi: 10.1074/jbc.M115.675827.
2015
|
| 3 | BSND3, CLCNKB
|
| Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
|
| Lopez HU, Haverfield E, Chung WK.
|
| Pediatr Dev Pathol 18(4):324-6. doi: 10.2350/14-08-1543-CR.1.
2015
|
| 4 | CLCNKB
|
| Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.
|
| Wojciechowski D, Fischer M, Fahlke C.
|
| J Biol Chem 290(30):18732-43. doi: 10.1074/jbc.M114.625376.
2015
|
| 5 | CLCNKB
|
| CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels.
|
| Andrini O, Keck M, L'Hoste S, Briones R, Mansour-Hendili L, Grand T, Sepúlveda FV, Blanchard A, Lourdel S, Vargas-Poussou R, Teulon J.
|
| Pflugers Arch 466(9):1713-23. doi: 10.1007/s00424-013-1401-2.
2014
|
| 6 | BSND3, CLCNKB
|
| Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
|
| Keck M, Andrini O, Lahuna O, Burgos J, Cid LP, Sepúlveda FV, L'hoste S, Blanchard A, Vargas-Poussou R, Lourdel S, Teulon J.
|
| Hum Mutat 34(9):1269-78. doi: 10.1002/humu.22361.
2013
|
| 7 | BSND4D, CLCNKB
|
| Bartter syndrome in two sisters with a novel mutation of the CLCNKB gene, one with deafness.
|
| Robitaille P, Merouani A, He N, Pei Y.
|
| Eur J Pediatr 170(9):1209-11. doi: 10.1007/s00431-011-1464-z.
2011
|
| 8 | CLCNKA, CLCNKB
|
| A regulatory calcium-binding site at the subunit interface of CLC-K kidney chloride channels.
|
| Gradogna A, Babini E, Picollo A, Pusch M.
|
| J Gen Physiol 136(3):311-23.
2010
|
| 9 | CLCNKA, CLCNKB
|
| 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 4(1):38-46. Review.
2008
|
| 10 | CLCNKB
|
| A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane.
|
| Martinez GQ, Maduke M.
|
| PLoS One 3(7):e2746. doi: 10.1371/journal.pone.0002746.
2008
|
| 11 | BSND, BSND4, BSND4D, CLCNKA, CLCNKB
|
| Barttin modulates trafficking and function of ClC-K channels.
|
| Scholl U, Hebeisen S, Janssen AG, Muller-Newen G, Alekov A, Fahlke C.
|
| Proc Natl Acad Sci U S A 103(30):11411-6. Epub 2006 Jul 18. 2006
|
| 12 | BSND3, CLCNKB
|
| Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
|
| Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K.
|
| Endocr J 53(5):647-52. Epub 2006 Aug 11.
2006
|
| 13 | BSND3, BSND4D, CLCNKB, GTMS1, SLC12A3
|
| Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
|
| Bettinelli A, Borsa N, Syren ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S.
|
| Pediatr Res 58(6):1269-73. 2005
|
| 14 | BSND3, BSND4D, CLCNKA, CLCNKB
|
| Salt wasting and deafness resulting from mutations in two chloride channels.
|
| Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.
|
| N Engl J Med 350(13):1314-9. No abstract available. 2004
|
| 15 | CLCNKB, KCNJ1, SLC12A1, BSND3
|
| 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, Deschenes G, Antignac C, Guay-Woodford L, Knoers NV, Seyberth HW, Feldmann D, Hildebrandt F.
|
| J Am Soc Nephrol 11(8):1449-59. 2000
|
| 16 | CLCNKB, BSND3
|
| Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
|
| Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW.
|
| Pediatr Res 48(6):754-8. 2000
|
| 17 | CLCNKB, BSND3
|
| Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
|
| Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP.
|
| Nat Genet 17(2):171-8. 1997
|
| 18 | CLCN3, CLCNKA, CLCNKB
|
| Assignment of the genes encoding the human chloride channels, CLCNKA and CLCNKB, to 1p36 and of CLCN3 to 4q32-q33 by in situ hybridization.
|
| Saito-Ohara F, et al.
|
| Genomics 36 : 372-374. 1996
|
| 19 | CLCNKA, CLCNKB
|
| Cloning, tissue distribution, and intrarenal localization of ClC chloride channels in human kidney.
|
| Takeuchi Y, Uchida S, Marumo F, Sasaki S.
|
| Kidney Int 48(5):1497-503. 1995
|
| 20 | GTMS1, SLC12A3, GTMS2, CLCNKB
|
| Familial hypokalemia-hypomagnesemia or Gitelman's syndrome: a further case.
|
| Zarraga Larrondo S, Vallo A, Gainza J, Muniz R, Garcia Erauzkin G, Lampreabe I.
|
| Nephron 62(3):340-4. Erratum in: Nephron 1993 May;64(1):168. 1992
|