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Pendrin-Linked Deafness in Humans

2017
Hearing loss is a well-known clinical sign in the context of pendrin malfunction. Pendred syndrome (PS) and nonsyndromic hearing loss (DFNB4) with enlarged vestibular aqueduct (EVA) are two distinct, genetically determined clinical entities of which hearing loss is the main feature.
Sebastian Roesch   +2 more
openaire   +1 more source

Transcriptional Regulation and Epigenetics of Pendrin

2017
The SLC26A4 gene’s 21 exons on chromosome 7q31.1 encode the pendrin (SLC26A4) Cl−/anion exchanger. SLC26A4 is highly expressed in the epithelial cells of kidney, thyroid, inner ear and airways, in which the pendrin polypeptide is essential for normal chloride reabsorption, bicarbonate secretion and iodide accumulation.
Julia Rozenfeld   +4 more
openaire   +1 more source

Pendrin as a regulator of ECF and blood pressure

Current Opinion in Nephrology and Hypertension, 2009
Abnormal renal sodium handling plays a pivotal role in the pathophysiology of arterial hypertension. Though sodium is present in the diet as a chloride salt, most studies have focused on the renal mechanisms of sodium transport and their regulation, and very few have investigated the impact of chloride.
Eladari, Dominique   +4 more
openaire   +3 more sources

Pendrin and sodium channels: relevance to hypertension.

Journal of nephrology, 2011
Renal intercalated cells mediate the secretion or the absorption of OH-/H+ equivalents and Cl- in the distal convoluted tubule (DCT), the connecting tubule (CNT) and the cortical collecting duct (CCD). In so doing, they regulate acid-base balance, vascular volume and blood pressure. In type B and non-A, non-B intercalated cells, Cl- absorption and HCO3-
Susan M, Wall, Vladimir, Pech
openaire   +1 more source

[Pendrin: physiology, molecular biology and clinical importance].

Giornale italiano di nefrologia : organo ufficiale della Societa italiana di nefrologia, 2007
Pendrin, first identified in 1997, belongs to a superfamily of anion transporters localized in the thyroid gland, inner ear and kidney. Immunohistochemical studies have shown that pendrin is expressed at the apical surface of follicular thyroid cells, where it acts as a Cl-/I- exchanger regulating the chloride transport from the cytoplasm to the ...
R, Grimaldi   +4 more
openaire   +1 more source

Pendrin Expression In Staphylococcus Aureus Pneumonia

B67. ION TRANSPORT IN LUNG CELLS: IMPACT ON LUNG FUNCTION AND DISEASE, 2012
Kelly M. Adams   +5 more
openaire   +1 more source

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