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The Role of Pendrin in Health and Disease

Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

  • Book
  • © 2017

Overview

Editors:
  1. Silvia Dossena

    1. Paracelsus Medical University Institute of Pharmacology and Toxicology, Salzburg, Austria

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    You can also search for this editor in PubMed   Google Scholar

  2. Markus Paulmichl

    1. Paracelsus Medical University Institut of Pharmacology and Toxicology, Salzburg, Austria

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Written by experts in pendrin research

  • Provides readers with detailed knowledge about pendrin genetics, structure and pharmacology

  • Helps in understanding the molecular mechanisms of pendrin related disorders

  • Combines in the best way cutting-edge research with clinical aspects of pendrin function

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About this book

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.

Keywords

Table of contents (11 chapters)

  1. Front Matter

    Pages i-x
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  2. Introduction

    • Silvia Dossena, Markus Paulmichl
    Pages 1-4

  3. The Role of Pendrin in the Inner Ear

    1. Front Matter

      Pages 5-5
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    2. Mouse Models Reveal the Role of Pendrin in the Inner Ear

      • Philine Wangemann, Andrew J. Griffith
      Pages 7-22

    3. The Slc26a4 loop Mouse Model for Pendred’s Syndrome and Nonsyndromic Deafness

      • Amiel A. Dror, Karen B. Avraham
      Pages 23-36

    4. Pendrin-Linked Deafness in Humans

      • Sebastian Roesch, Miklós Tóth, Gerd Rasp
      Pages 37-60

    5. Genetic Diagnosis of Deafness

      • Sueli Matilde da Silva Costa, Priscila Zonzini Ramos, Fábio Tadeu Arrojo Martins, Edi Lúcia Sartorato
      Pages 61-81

  4. The Role of Pendrin in the Thyroid

    1. Front Matter

      Pages 83-83
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    2. Hypothyroidism, Subclinical Hypothyroidism and Related Diagnostic Tools

      • Gregor Schweighofer Zwink, Christian Pirich
      Pages 85-105

    3. The Controversial Role of Pendrin in Thyroid Cell Function and in the Thyroid Phenotype in Pendred Syndrome

      • Peter Kopp, Aigerim Bizhanova, Liuska Pesce
      Pages 107-118

  5. The Role of Pendrin in the Kidney

    1. Front Matter

      Pages 119-119
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    2. Pendrin and Its Partners in the Kidney: Roles in Vascular Volume and Acid Base Regulation

      • Manoocher Soleimani, Giovanna Valenti
      Pages 121-137

  6. The Role of Pendrin in the Airways

    1. Front Matter

      Pages 139-139
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    2. The Role of Pendrin in the Airways: Links with Asthma and COPD

      • Kenji Izuhara, Shoichi Suzuki, Charity Nofziger, Masahiro Ogawa, Shoichiro Ohta, Yasuhiro Nanri et al.
      Pages 141-154

  7. The Pendrin Gene and Protein

    1. Front Matter

      Pages 155-155
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    2. Transcriptional Regulation and Epigenetics of Pendrin

      • Julia Rozenfeld, Charity Nofziger, Orly Kladnitsky, Seth L. Alper, Israel Zelikovic
      Pages 157-185

    3. The Pendrin Polypeptide

      • Silvia Dossena, Emanuele Bernardinelli, Alok K. Sharma, Seth L. Alper, Markus Paulmichl
      Pages 187-220

  8. Back Matter

    Pages 221-226
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Reviews

“The purpose is to summarize the current knowledge about the role of pendrin in normal physiology and disease pathology. The intended audience is predominantly researchers and physicians interested in a detailed description of the multifaceted function of pendrin. However, the book also could serve as a good source for undergraduate and graduate students and postgraduate trainees interested in thyroid physiology and pathology as well as physiology, pathology, and diagnosis of deafness in general.” (Partha Kasturi, Doody’s Book Reviews, June, 2017) 

Editors and Affiliations

  • Paracelsus Medical University Institute of Pharmacology and Toxicology, Salzburg, Austria

    Silvia Dossena

  • Paracelsus Medical University Institut of Pharmacology and Toxicology, Salzburg, Austria

    Markus Paulmichl

About the editors

Prof. Dr. Markus Paulmichl Institute of Pharmacology and Toxicology of the Paracelsus Medical University Salzburg, Austria

Silvia Dossena, PhD Institute of Pharmacology and Toxicology of the Paracelsus Medical University Salzburg, Austria

Bibliographic Information

  • Book Title: The Role of Pendrin in Health and Disease

  • Book Subtitle: Molecular and Functional Aspects of the SLC26A4 Anion Exchanger

  • Editors: Silvia Dossena, Markus Paulmichl

  • DOI: https://doi.org/10.1007/978-3-319-43287-8

  • Publisher: Springer Cham

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer International Publishing Switzerland 2017

  • Hardcover ISBN: 978-3-319-43285-4Published: 10 March 2017

  • Softcover ISBN: 978-3-319-82780-3Published: 20 July 2018

  • eBook ISBN: 978-3-319-43287-8Published: 02 March 2017

  • Edition Number: 1

  • Number of Pages: X, 226

  • Number of Illustrations: 10 b/w illustrations, 26 illustrations in colour

  • Topics: Molecular Medicine, Otorhinolaryngology, Endocrinology, Human Genetics

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