نتایج جستجو برای: pendrin
تعداد نتایج: 335 فیلتر نتایج به سال:
The most common syndromic form of hereditary SNHL, Pendred syndrome (PS) was described by Pendred in 1896. The condition is autosomal recessive, and affected individuals also have goiter. The prevalence of PS is estimated at 7.5 to 10 per 100,000 individuals, suggesting that the syndrome may account for 10% of hereditary deafness. The hearing loss is usually congenital and severe to profound, a...
Novel Role for Pendrin in Orchestrating Bicarbonate Secretion in Cftr-expressing Airway Serous Cells
NOVEL ROLE FOR PENDRIN IN ORCHESTRATING BICARBONATE SECRETION IN CFTR-EXPRESSING AIRWAY SEROUS CELLS James P Garnett, Emma Hickman, Rachel Burrows, Péter Hegyi, László Tiszlavicz, Alan W Cuthbert, Peying Fong and Michael A Gray Institute for Cell & Molecular Biosciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; Novartis Institutes for Biomedical Research (NIBR), Novartis Horsham...
BACKGROUND Carbonic anhydrase inhibitors (CAI) are mild diuretics, hence not widely used in fluid overloaded states. They are however the treatment of choice for certain non-kidney conditions. Thiazides, specific inhibitors of Na-Cl cotransport (NCC), are mild agents and the most widely used diuretics in the world for control of mild hypertension. HYPOTHESIS In addition to inhibiting the salt...
BACKGROUND Mutations in SLC26A4, which encodes pendrin, are a common cause of deafness. SLC26A4 mutations are responsible for Pendred syndrome and non-syndromic enlarged vestibular aqueduct (EVA). The mutation spectrum of SLC26A4 varies widely among ethnic groups. To investigate the incidence of EVA in Chinese population and to provide appropriate genetic testing and counseling to patients with...
EPITHELIAL Na CHANNELS (ENaC) are expressed in the aldosterone-sensitive distal nephron, where they serve as the final site of renal Na reabsorption and participate in the regulation of extracellular fluid volume and blood pressure. ENaC gain-offunction mutations are associated with hypertension, whereas loss-of-function mutations are associated with hypotension. Appreciation of the features th...
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