Genetics of Hearing Impairment
The inner ear is a complex machinery at the cellular and molecular levels. Many different genes and proteins play roles in the development and maintenance of its structure and function, through participating in diverse molecular networks. A defect in any of these components can result in the loss of...
保存先:
| フォーマット: | Online |
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| 言語: | 英語 |
| 出版事項: |
MDPI - Multidisciplinary Digital Publishing Institute
2022
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| 主題: | |
| オンライン･アクセス: | ONIX_20221206_9783036552231_66 |
| タグ: |
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| _version_ | 1869522002570641408 |
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| collection | Directory of Open Access Books |
| description | The inner ear is a complex machinery at the cellular and molecular levels. Many different genes and proteins play roles in the development and maintenance of its structure and function, through participating in diverse molecular networks. A defect in any of these components can result in the loss of hearing. Consequently, hearing impairment encompasses a wide variety of disorders that are clinically and genetically heterogeneous. Understanding their genetic causes and their pathophysiological mechanisms, and characterizing the resulting phenotypes, are essential for developing novel therapies that target the specific defects. The articles and reviews in this book are representative of the many research lines that are currently active in the field, including recent advances in the genes and mutations involved in hearing impairment, the mechanisms through which mutations result in different syndromic or non-syndromic disorders, and the description of the associated phenotypes in humans and in animal models. |
| format | Online |
| id | doab-20.500.12854ir-94543 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | MDPI - Multidisciplinary Digital Publishing Institute |
| publisherStr | MDPI - Multidisciplinary Digital Publishing Institute |
| record_format | ojs |
| spelling | doab-20.500.12854ir-945432024-03-28T03:31:09Z Genetics of Hearing Impairment del Castillo, Ignacio Kremer, Hannie inner ear hearing impairment gene identification disease-causing mutations genetic epidemiology genotype&ndash phenotype correlations pathophysiological mechanisms omics genome editing gene therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) The inner ear is a complex machinery at the cellular and molecular levels. Many different genes and proteins play roles in the development and maintenance of its structure and function, through participating in diverse molecular networks. A defect in any of these components can result in the loss of hearing. Consequently, hearing impairment encompasses a wide variety of disorders that are clinically and genetically heterogeneous. Understanding their genetic causes and their pathophysiological mechanisms, and characterizing the resulting phenotypes, are essential for developing novel therapies that target the specific defects. The articles and reviews in this book are representative of the many research lines that are currently active in the field, including recent advances in the genes and mutations involved in hearing impairment, the mechanisms through which mutations result in different syndromic or non-syndromic disorders, and the description of the associated phenotypes in humans and in animal models. 2022-12-06T16:10:57Z 2022-12-06T16:10:57Z 2022 book ONIX_20221206_9783036552231_66 9783036552231 9783036552248 https://directory.doabooks.org/handle/20.500.12854/94543 eng image/jpeg Attribution 4.0 International https://mdpi.com/books/pdfview/book/6378 https://mdpi.com/books/pdfview/book/6378 MDPI - Multidisciplinary Digital Publishing Institute 10.3390/books978-3-0365-5224-8 10.3390/books978-3-0365-5224-8 46cabcaa-dd94-4bfe-87b4-55023c1b36d0 9783036552231 9783036552248 314 Basel open access |
| spellingShingle | inner ear hearing impairment gene identification disease-causing mutations genetic epidemiology genotype&ndash phenotype correlations pathophysiological mechanisms omics genome editing gene therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) Genetics of Hearing Impairment |
| title | Genetics of Hearing Impairment |
| title_full | Genetics of Hearing Impairment |
| title_fullStr | Genetics of Hearing Impairment |
| title_full_unstemmed | Genetics of Hearing Impairment |
| title_short | Genetics of Hearing Impairment |
| title_sort | genetics of hearing impairment |
| topic | inner ear hearing impairment gene identification disease-causing mutations genetic epidemiology genotype&ndash phenotype correlations pathophysiological mechanisms omics genome editing gene therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| topic_facet | inner ear hearing impairment gene identification disease-causing mutations genetic epidemiology genotype&ndash phenotype correlations pathophysiological mechanisms omics genome editing gene therapy thema EDItEUR::G Reference, Information and Interdisciplinary subjects::GP Research and information: general thema EDItEUR::P Mathematics and Science::PS Biology, life sciences thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical) |
| url | ONIX_20221206_9783036552231_66 |