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0 (hodnocen0 x )

EB

EB

ONLINE

Cham : Springer International Publishing : Imprint: Springer, 2017

1 online zdroj

ISBN 978-3-319-43287-8 (e-kniha)

ISBN 9783319432854 (print)

Printed edition: ISBN 9783319432854

Pendrin and the Pendrin Consortium -- Pendrin role in the inner ear -- Pendrin role in the thyroid and Pendred syndrome -- Pendrin role in the kidney and hypertension -- Interplay between Pendrin and other renal transport molecules -- Pendrin role in the airways: links with asthma and COPD -- Pendrin expression and function in non-conventional sites -- Transcriptional regulation and epigenetics of Pendrin -- Models for Pendrin structure -- Genetic diagnosis of deafness -- Functional and molecular properties of Pendrin allelic variants -- Potential pharmacological interventions for Pendrin dysfunction.

This book reviews the current state of knowledge on the genetics, molecular biology and physiology of pendrin, with a particular focus on pendrin dysfunction and the consequences for human health.  Pendrin is a membrane transport protein expressed in the thyroid, inner ear, kidney and airways, and was recently found in a variety of other tissues and organs. Pendrin malfunction may cause a genetic disease called Pendred syndrome or non-syndromic deafness. The book provides a thorough description of the multifaceted role of pendrin in human health and disease. As such, it offers an invaluable tool for physiology and pathology researchers, while also providing essential guidance for otorhinolaryngologists and endocrinologists in the diagnosis of Pendred syndrome and pendrin-related deafness..

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