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Bartter syndrome, infantile, with sensorineural deafness (Barttin), also known as BSND, is a human gene which is associated with Bartter syndrome. [5] This gene encodes an essential …

2024年12月24日 · BSND (Barttin CLCNK Type Accessory Subunit Beta) is a Protein Coding gene. Diseases associated with BSND include Bartter Syndrome, Type 4A, Neonatal, With …

The BSND gene provides instructions for making a protein called barttin. This protein is found primarily in the kidneys, where it attaches (binds) to two specific chloride channels: ClC-Ka …

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2001年10月22日 · We examined ten families with BSND and detected seven different mutations in BSND that probably result in loss of function. In accordance with the phenotype, BSND is …

We report here the identification by positional cloning, in a region not covered by the human genome sequencing projects, of a new gene, BSND, as the cause of BSND. We examined ten …

2009年10月15日 · The human BSND cDNA consists of 1,596 basepairs and encodes a protein, designated barttin, that contains 2 putative transmembrane alpha helices. There is 70% amino …

2024年11月26日 · BSND immunohistochemistry is a potentially useful diagnostic marker for salivary gland neoplasms, especially oncocytic and Warthin-like MECs. A threshold of ≥ 10% …

2015年6月19日 · These results suggest that BSND and ATP6V1G3 are excellent novel immunohistochemical markers for differentiating between chromophobe RCC and other …