The Role of Pendrin in Health and Disease Molecular and Functional Aspects of the SLC26A4 Anion Exchanger /

• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Άλλοι συγγραφείς: Dossena, Silvia (Επιμελητής έκδοσης), Paulmichl, Markus (Επιμελητής έκδοσης)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Cham : Springer International Publishing : Imprint: Springer, 2017.
• Θέματα: Medicine.; Human genetics.; Molecular biology.; Endocrinology.; Otorhinolaryngology.; Biomedicine.; Molecular Medicine.; Human Genetics.

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 w...

Πίνακας περιεχομένων:

• 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.