02665nam 2200529z- 450 991063779300332120231214133632.03-0365-5224-3(CKB)5470000001631606(oapen)https://directory.doabooks.org/handle/20.500.12854/94543(EXLCZ)99547000000163160620202212d2022 |y 0engurmn|---annantxtrdacontentcrdamediacrrdacarrierGenetics of Hearing ImpairmentBaselMDPI - Multidisciplinary Digital Publishing Institute20221 electronic resource (314 p.)3-0365-5223-5 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.Research & information: generalbicsscBiology, life sciencesbicsscGenetics (non-medical)bicsscinner earhearing impairmentgene identificationdisease-causing mutationsgenetic epidemiologygenotype&ndashphenotype correlationspathophysiological mechanismsomicsgenome editinggene therapyResearch & information: generalBiology, life sciencesGenetics (non-medical)del Castillo Ignacioedt1331652Kremer Hannieedtdel Castillo IgnacioothKremer HannieothBOOK9910637793003321Genetics of Hearing Impairment3040534UNINA