The role of pendrin in health and disease : molecular and functional aspects of the SLC26A4 anion exchanger /: molecular and functional aspects of the SLC26A4 anion exchanger. (2017)

• Record Type: Book
• Further Information: Note: Silvia Dossena, Markus Paulmichl, editors.
• Editors: Dossena, Silvia; Paulmichl, Markus
• Contents: Preface; Contents; 1: Introduction; 1.1 Historical Background; 1.2 Perspectives and Open Questions; References; Part I: The Role of Pendrin in the Inner Ear; 2: Mouse Models Reveal the Role of Pendrin in the Inner Ear; 2.1 Introduction ; 2.2 Synopsis of the Development of the Murine Inner Ear; 2.3 Pendrin Expression in the Inner Ear; 2.4 Mouse Models That Lack Pendrin Expression; 2.4.1 Development of the Cochlea Without Pendrin; 2.4.2 Development of the Vestibular Labyrinth Without Pendrin; 2.5 Mouse Models That Express Hypomorphic Pendrin. 2.6 Mouse Models with Spatially Limited Pendrin Expression2.6.1 Inner Ears Without Pendrin Expression in the Endolymphatic Sac; 2.6.2 Inner Ear Without Pendrin Expression in the Cochlea and Vestibular Labyrinth; 2.7 Mouse Models with Temporally Limited Pendrin Expression; 2.7.1 Pendrin Expression Is Required During a Critical Time Period During Development; 2.7.2 Pendrin Deficiency During Development Leads to Degeneration of Stria Vascularis and Causes Fluctuating and Progressive Hearing Loss; 2.7.3 Reinstatement of Pendrin Expression Alleviates Fluctuating Hearing Loss; References. 3: The Slc26a4loop Mouse Model for Pendred's Syndrome and Nonsyndromic Deafness3.1 Introduction; 3.2 The Slc26a4loop Mouse Is a Model for Pendred's Syndrome; 3.3 Slc26a4loop Is Informative for the Variable Vestibular Phenotype of Pendred's Syndrome; 3.4 Slc26a4loop Is Informative for the Variable Thyroid Phenotype of Pendred's Syndrome; 3.5 Summary; References; 4: Pendrin-Linked Deafness in Humans; 4.1 Introduction; 4.2 Hearing in Humans; 4.2.1 Embryology; 4.2.2 Anatomy; 4.2.3 Physiology; 4.3 Impaired Hearing; 4.3.1 Hearing Loss in General. 4.3.2 Hearing Loss in Case of Pendrin Dysfunction4.3.2.1 Diagnosis; 4.3.2.2 Clinical Course; 4.4 Treatment of Hearing Loss; 4.4.1 Treatment of Hearing Loss in General; 4.4.2 Treatment of Hearing Loss in Case of Pendrin Dysfunction; References; 5: Genetic Diagnosis of Deafness; 5.1 Causes of Hearing Loss; 5.1.1 Environmental Causes; 5.1.2 Genetic Causes; 5.2 Hereditary Hearing Loss; 5.2.1 Syndromic Hearing Loss; 5.2.1.1 Autosomal Recessive Syndromic Hearing Loss; 5.2.1.2 Autosomal Dominant Syndromic Hearing Loss; 5.2.1.3 X-Linked Syndromic Hearing Loss. 5.2.1.4 Mitochondrial Syndromic Hearing Impairment5.2.2 Nonsyndromic Hearing Impairment; 5.2.2.1 Autosomal Recessive Nonsyndromic Hearing Loss; 5.2.2.2 Autosomal Dominant Nonsyndromic Hearing Loss; 5.2.2.3 X-Linked Nonsyndromic Hearing Loss; 5.2.2.4 Mitochondrial Nonsyndromic Hearing Loss; 5.3 Molecular Genetic Testing; 5.3.1 Newborn Hearing Screening; 5.3.2 Conventional and New Molecular Tools; 5.4 Conclusions and Perspectives; References; Part II: The Role of Pendrin in the Thyroid; 6: Hypothyroidism, Subclinical Hypothyroidism and Related Diagnostic Tools.
• Publisher Details: Cham, Switzerland : Springer
• Publication Date: 2017
• Extent: 1 online resource (x, 226 pages), illustrations (some color)
• Subjects: 572/.696; Medicine; Membrane proteins; Cell membranes; SCIENCE -- Life Sciences -- Biochemistry; Cell membranes; Membrane proteins; Membrane Transport Proteins -- metabolism; Membrane Transport Proteins -- genetics; Antiporters -- metabolism; Goiter, Nodular; Hearing Loss, Sensorineural; Biomedicine; Molecular Medicine; Otorhinolaryngology; Endocrinology; Human Genetics; Medical -- Otorhinolaryngology; Medical -- Endocrinology & Metabolism; Medical -- Genetics; Otorhinolaryngology (ENT); Endocrinology; Medical genetics; Otorhinolaryngology; Endocrinology; Human genetics; Science -- Life Sciences -- Biology -- Molecular Biology; Medical research; Electronic books; Electronic book
• Languages: English
• ISBNs: 9783319432878; 3319432877
• Related ISBNs: 9783319432854; 3319432850
• Notes: Note: Includes bibliographical references and index.; Note: Online resource; title from PDF title page (SpringerLink, viewed March 9, 2017).
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.