| 1 | BSND3, CLCNKB
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| Carboxyl-terminal Truncations of ClC-Kb Abolish Channel Activation by Barttin Via Modified Common Gating and Trafficking.
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| Stölting G, Bungert-Plümke S, Franzen A, Fahlke C.
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| J Biol Chem 290(51):30406-16. doi: 10.1074/jbc.M115.675827.
2015
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| 2 | BSND3, CLCNKB
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| Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
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| Lopez HU, Haverfield E, Chung WK.
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| Pediatr Dev Pathol 18(4):324-6. doi: 10.2350/14-08-1543-CR.1.
2015
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| 3 | BSND3, CLCNKB
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| Novel CLCNKB mutations causing Bartter syndrome affect channel surface expression.
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| Keck M, Andrini O, Lahuna O, Burgos J, Cid LP, Sepúlveda FV, L'hoste S, Blanchard A, Vargas-Poussou R, Lourdel S, Teulon J.
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| Hum Mutat 34(9):1269-78. doi: 10.1002/humu.22361.
2013
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| 4 | BSND3, CLCNKB
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| Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome.
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| Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K.
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| Endocr J 53(5):647-52. Epub 2006 Aug 11.
2006
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| 5 | BSND3, BSND4D, CLCNKB, GTMS1, SLC12A3
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| Simultaneous mutations in the CLCNKB and SLC12A3 genes in two siblings with phenotypic heterogeneity in classic Bartter syndrome.
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| Bettinelli A, Borsa N, Syren ML, Mattiello C, Coviello D, Edefonti A, Giani M, Travi M, Tedeschi S.
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| Pediatr Res 58(6):1269-73. 2005
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| 6 | BSND3, BSND4D, CLCNKA, CLCNKB
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| Salt wasting and deafness resulting from mutations in two chloride channels.
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| Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S.
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| N Engl J Med 350(13):1314-9. No abstract available. 2004
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| 7 | BSND3
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| Genotype/phenotype observations in African Americans with Bartter syndrome.
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| Schurman SJ, Perlman SA, Sutphen R, Campos A, Garin EH, Cruz DN, Shoemaker LR.
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| J Pediatr 139(1):105-10. 2001
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| 8 | CLCNKB, KCNJ1, SLC12A1, BSND3
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| Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.
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| 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.
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| J Am Soc Nephrol 11(8):1449-59. 2000
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| 9 | CLCNKB, BSND3
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| Mutations in the chloride channel gene, CLCNKB, leading to a mixed Bartter-Gitelman phenotype.
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| Jeck N, Konrad M, Peters M, Weber S, Bonzel KE, Seyberth HW.
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| Pediatr Res 48(6):754-8. 2000
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| 10 | BSND3, BSND4, BSND4D
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| Linkage of infantile Bartter syndrome with sensorineural deafness to chromosome 1p.
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| Brennan TM, Landau D, Shalev H, Lamb F, Schutte BC, Walder RY, Mark AL, Carmi R, Sheffield VC.
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| Am J Hum Genet 62(2):355-61. 1998
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| 11 | CLCNKB, BSND3
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| Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III.
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| 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.
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| Nat Genet 17(2):171-8. 1997
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