國立高雄大學圖資館 |

Language: English

Back

The role of pendrin in health and di...

Dossena, Silvia.

The role of pendrin in health and diseasemolecular and functional aspects of the SLC26A4 anion exchanger /

Record Type:	Electronic resources : Monograph/item
Title/Author:	The role of pendrin in health and diseaseedited by Silvia Dossena, Markus Paulmichl.
Reminder of title:	molecular and functional aspects of the SLC26A4 anion exchanger /
other author:	Dossena, Silvia.
Published:	Cham :Springer International Publishing :2017.
Description:	x, 226 p. :ill. (some col.), digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Membrane proteins.
Online resource:	http://dx.doi.org/10.1007/978-3-319-43287-8
ISBN:	9783319432878$q(electronic bk.)

The role of pendrin in health and diseasemolecular and functional aspects of the SLC26A4 anion exchanger /
The role of pendrin in health and diseasemolecular and functional aspects of the SLC26A4 anion exchanger /[electronic resource] :edited by Silvia Dossena, Markus Paulmichl. - Cham :Springer International Publishing :2017. - x, 226 p. :ill. (some col.), digital ;24 cm.

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.

ISBN: 9783319432878$q(electronic bk.)

Standard No.: 10.1007/978-3-319-43287-8doiSubjects--Topical Terms:

221311
Membrane proteins.

LC Class. No.: QP552.M44

Dewey Class. No.: 572.696

The role of pendrin in health and diseasemolecular and functional aspects of the SLC26A4 anion exchanger /
LDR:02500nmm a2200337 a 4500 001 508764
003 DE-He213
005 20170310142106.0
006 m d
007 cr nn 008maaau
008 171121s2017 gw s 0 eng d
020 $a 9783319432878$q(electronic bk.)
020 $a 9783319432854$q(paper)
024 7 $a 10.1007/978-3-319-43287-8 $2 doi
035 $a 978-3-319-43287-8
040 $a GP $c GP
041 0 $a eng
050 4 $a QP552.M44
072 7 $a MBGR $2 bicssc
072 7 $a PSD $2 bicssc
072 7 $a SCI049000 $2 bisacsh
072 7 $a MED067000 $2 bisacsh
082 0 4 $a 572.696 $2 23
090 $a QP552.M44 $b R745 2017
245 0 4 $a The role of pendrin in health and disease $h [electronic resource] : $b molecular and functional aspects of the SLC26A4 anion exchanger / $c edited by Silvia Dossena, Markus Paulmichl.
260 $a Cham : $b Springer International Publishing : $b Imprint: Springer, $c 2017.
300 $a x, 226 p. : $b ill. (some col.), digital ; $c 24 cm.
505 0 $a 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.
520 $a 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.
650 0 $a Membrane proteins. $3 221311
650 0 $a Cell membranes. $3 194572
650 1 4 $a Biomedicine. $3 273648
650 2 4 $a Molecular Medicine. $3 273932
650 2 4 $a Otorhinolaryngology. $3 274151
650 2 4 $a Endocrinology. $3 196517
650 2 4 $a Human Genetics. $3 273658
700 1 $a Dossena, Silvia. $3 775145
700 1 $a Paulmichl, Markus. $3 775146
710 2 $a SpringerLink (Online service) $3 273601
773 0 $t Springer eBooks
856 4 0 $u http://dx.doi.org/10.1007/978-3-319-43287-8
950 $a Biomedical and Life Sciences (Springer-11642)