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| 003 | ES-MaUEC | ||
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| 007 | cr cnu|||unuuu | ||
| 008 | 170306s2017 sz a ob 001 0 eng d | ||
| 020 |
_a3319432877 _q(electronic bk.) |
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| 020 |
_a9783319432878 _q(electronic bk.) |
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| 020 | _z3319432850 | ||
| 020 |
_z9783319432854 _q(print) |
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| 050 | 4 |
_aQP552.M44 _b2017 EB |
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| 245 | 0 | 4 |
_aThe role of pendrin in health and disease : _bmolecular and functional aspects of the SLC26A4 anion exchanger _cSilvia Dossena, Markus Paulmichl, editors. |
| 264 | 1 |
_aCham, Switzerland _bSpringer _c2017. |
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| 300 |
_a1 recurso en línea (x, 226 páginas) _bilustraciones (algunas a color) |
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| 336 |
_aTexto _btxt _2rdacontent |
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| 337 |
_aelectrónico _bc _2rdamedia |
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| 338 |
_arecurso electrónico _bcr _2rdacarrier |
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| 347 |
_atext file _bPDF _2rda |
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| 500 | _aIncluye índice | ||
| 500 |
_aSpringerLink _bSpringer Biomedical and Life Sciences eBooks 2017 English+International |
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| 504 | _aIncluye referencias bibliográficas e índice | ||
| 505 | 0 | _aPreface; 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. | |
| 505 | 8 | _a2.6 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. | |
| 505 | 8 | _a3: 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. | |
| 505 | 8 | _a4.3.2 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. | |
| 505 | 8 | _a5.2.1.4 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. | |
| 520 | 3 | _aThis 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 | 7 |
_aMembranas celulares _2embne _0(OCoLC)fst00850194 _0 _9142266 |
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| 700 | 1 |
_aDossena, Silvia, _eeditor literario |
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| 700 | 1 |
_aPaulmichl, Markus, _eeditor literario |
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| 856 | 4 | 0 |
_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-319-43287-8 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid) |
| 988 | _aEBOOK, asignarmaterias, EBSPRINGER_2017C | ||
| 998 |
_b02/2018 _dz _e- _zSI |
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_c95504 _d95504 _x1 |
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