The anion exchanger Pendrin, which is encoded by SLC26A4 (human)/Slc26a4 (mouse) gene, is localized on the apical membrane of non-acid-secreting intercalated (IC) cells in the kidney cortical collecting duct (CCD). To examine its role in the mediation of bicarbonate secretion in vivo and the apical Cl(-)/HCO(3)(-) exchanger in the kidney CCD, mice with genetic deletion of pendrin were generated...

OBJECTIVE Gene chip and gene sequencing techniques were used to detect the main pathogenic genes in pregnant women with hereditary hearing loss. PATIENTS AND METHODS From May 2015 to May 2016, 1080 pregnant in Xuzhou Maternal and Child Health Hospital were enrolled in this study. Women age range was 18 to 40 years. 4 genes and 9 mutation sites, including 4 sites (35delG, 176, 235delC and 299)...

BACKGROUND Thirty thousand infants are born every year with congenital hearing impairment in mainland China. Racial and regional factors are important in clinical diagnosis of genetic deafness. However, molecular etiology of hearing impairment in the Tibetan Chinese population living in the Tibetan Plateau has not been investigated. To provide appropriate genetic testing and counseling to Tibet...

The cellular and molecular pathways in asthma are highly complex. Increased understanding can be obtained by unbiased transcriptomic analysis (RNA-Seq). We hypothesised that the transcriptomic profile of whole human endobronchial biopsies differs between asthma patients and controls. First, we investigated the feasibility of obtaining RNA from whole endobronchial biopsies suitable for RNA-Seq. ...

Popular online social applications hosted by social platforms serve, each, millions of interconnected users. Understanding the workloads of these applications is key in improving the management of their performance and costs. In this work, we analyse traces gathered over a period of thirty-one months for hundreds of Facebook applications. We characterize the popularity of applications, which de...

HEARING IMPAIRMENT IS A HIGHLY prevalent disorder in humans, with significant hearing loss present in 278 million people worldwide (7). Each year, approximately two in every 1,000 U.S. children are born either deaf or hard-of-hearing (4). Without appropriate intervention at an early age, undetected or untreated hearing loss results in delays in language development and subsequent issues with co...

Мутации гена SLC26A4 могут приводить как к формированию аутосомно-рецессивной тугоухости 4 типа (DFNB4, OMIM #600791), так и синдрому Пендреда (PDS, #274600), при котором нейросенсорная потеря слуха сочетается с дисфункцией щитовидной железы, клинически проявляющейся во второй декаде жизни. Обе формы сопровождаться специфическими аномалиями внутреннего уха: IP-I, IP-II (Mondini) и/или EVA. В Як...

Pendrin (Slc26a4) localizes to type B and non-A, non-B intercalated cells in the distal convoluted tubule, the connecting tubule, and the cortical collecting duct (CCD), where it mediates apical Cl(-)/HCO(3)(-) exchange. The purpose of this study was to determine whether angiotensin II increases transepithelial net chloride transport, J(Cl), in mouse CCD through a pendrin-dependent mechanism. J...

This review summarizes the newly discovered molecular mechanism of secretin-stimulated urine HCO3– excretion and role cystic fibrosis transmembrane conductance regulator (CFTR) in renal excretion. The secretin receptor is functionally expressed basolateral membrane HCO3–-secreting β-intercalated cells collecting duct. Here it activates a fast efficient secretion into serving to normalize metabo...