Genetics of Hearing Impairment

• অন্যান্য লেখক: del Castillo, Ignacio (সম্পাদক), Kremer, Hannie (সম্পাদক)
• বিন্যাস: বৈদ্যুতিক গ্রন্থের অধ্যায়
• ভাষা: ইংরেজি
• প্রকাশিত: Basel MDPI - Multidisciplinary Digital Publishing Institute 2022
• বিষয়গুলি: Research & information: general; Biology, life sciences; Genetics (non-medical); inner ear; hearing impairment; gene identification; disease-causing mutations; genetic epidemiology; genotype– phenotype correlations; pathophysiological mechanisms; omics; genome editing; gene therapy
• অনলাইন ব্যবহার করুন: DOAB: download the publication; DOAB: description of the publication

সংক্ষিপ্ত

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.

দৈহিক বর্ননা

1 electronic resource (314 p.)

আইসবিএন

books978-3-0365-5224-8
9783036552231
9783036552248

প্রবেশাধিকার

Open Access