Recombinant Human Barttin (BSND), partial

1. These results suggest that BSND is expressed only in normal salivary glands and oncocytic salivary gland tumors such as Warthin's tumor and oncocytoma PMID: 28470573
2. results demonstrate that the carboxyl terminus of hClC-Kb is not part of the binding site for barttin, but functionally modifies the interplay with barttin. PMID: 26453302
3. These results demonstrate that mutations in a cluster of hydrophobic residues within transmembrane domain 1 affect barttin-CLC-K interaction and impair gating modification by the accessory subunit PMID: 26063802
4. R8W and G47R, two naturally occurring barttin mutations identified in patients with Bartter syndrome type IV, reduce barttin palmitoylation and CLC-K/barttin channel activity. PMID: 26013830
5. BSND, was first modeled, and then, the identified mutation was further analyzed by using different bioinformatics tools. PMID: 21541222
6. Case Report: G47R mutation decreases barttin expression, resulting CIC-K location being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene. PMID: 21269598
7. The mislocalization of CLC-K2 was identified as the molecular pathogenesis of Bartter syndrome by mutant barttins. PMID: 12761627
8. ClC-Ka/barttin channels are regulated by SGK1 and SGK3, which may thus participate in the regulation of transport in kidney and inner ear. PMID: 15496163
9. A missense, point mutation on gene BSND exon 1, affects the function of the CLC-K/barttin chloride channel and caused Bartter syndrome with sensorineural deafness in two families from Spain. PMID: 16572343
10. Barttin mutations is associated with antenatal Bartter syndrome with sensorineural deafness PMID: 16773427
11. Barttin modulates trafficking and function of ClC-K1 and ClC-Kb channels PMID: 16849430
12. BSND-V43I, a common variant conferring partial loss of function, exhibits significant deviation from equilibrium in the Ghanaian normotensive control population PMID: 17954364
13. Disruption of the gene encoding Barttin, BSND, results in a 'double knockout' of the functions of both ClCKA and ClCKB, manifesting as Bartter syndrome type IV with sensorineural deafness and an especially severe salt-losing phenotype. PMID: 18094726
14. Bartter syndrome type IV can be caused by various derangements in the function of barttin, likely contributing to the diversity of observed phenotypes. PMID: 18776122
15. Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome. PMID: 18843510
16. In a large cohort of ante/neonatal Bartter syndrome, deafness, transient hyperkalaemia and severe hypokalaemic hypochloraemic alkalosis orientate molecular investigations to BSND, KCNJ1 and CLCNKB genes, respectively. PMID: 19096086
17. Mutations of BSND can cause nonsyndromic deafness or Bartter syndrome. PMID: 19646679
18. The molecular basis of DFNB73 autosomal recessive deafness is reported. PMID: 19646679

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HGNC: 16512

OMIM: 602522

KEGG: hsa:7809

STRING: 9606.ENSP00000360312

UniGene: Hs.151291