Andrej Kral (auth.), Andrej Kral, Arthur N. Popper, Richard's Deafness PDF

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By Andrej Kral (auth.), Andrej Kral, Arthur N. Popper, Richard R. Fay (eds.)

ISBN-10: 1461478391

ISBN-13: 9781461478393

ISBN-10: 1461478405

ISBN-13: 9781461478409

This publication considers deafness as a scientific situation, exploring the neuronal outcomes at the peripheral and the relevant anxious procedure in addition to on cognition and studying, considered from the viewpoint of genetics, neuroanatomy and neurophysiology, molecular biology, platforms neuroscience, and cognitive neuroscience.

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Extra info for Deafness

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2010b). Overall, for clinical and genetic diagnosis of HL, the deep sequencing strategy will undoubtedly enable further prediction of phenotypes and enhance rehabilitation by leading to the discovery of new deafness genes and mutations. Characterization of the proteins encoded by these genes will shed light on the biological mechanisms involved in the pathophysiology of hearing loss, which is the basis for genetic-based therapeutics. Etiology of Deafness 25 4 Genes, Mutations, and Consequences on the Inner Ear The discovery of genes involved in hearing and the detection of deafness-causing mutations have paved the way to deciphering the molecular mechanisms underlying the development and function of the auditory system.

McHugh, R. , & Friedman, R. A. (2006). Genetics of hearing loss: Allelism and modifier genes produce a phenotypic continuum. The Anatomical Record, 288(4), 370–381. Metzker, M. L. (2010). Sequencing technologies—the next generation. Nature Reviews Genetics, 11(1), 31–46. Nadol, J. , & Merchant, S. N. (2001). Histopathology and molecular genetics of hearing loss in the human. International Journal of Pediatric Otorhinolaryngology, 61(1), 1–15. , Tarantino, L. , Bailey, J. , & Moser, T. (2010). Hearing requires otoferlin-dependent efficient replenishment of synaptic vesicles in hair cells.

American Journal of Human Genetics, 86(3), 378–388. , White, T. , Smith, L. , Bailey, R. , Compton, J. , Paul, D. , & Bale, S. J. (1998). Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Human Genetics, 103(4), 393–399. Richardson, G. , de Monvel, J. , & Petit, C. (2011). How the genetics of deafness illuminates auditory physiology. Annual Review of Physiology, 73, 311–334. , Moreno-Pelayo, M. , & del Castillo, I.

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Deafness by Andrej Kral (auth.), Andrej Kral, Arthur N. Popper, Richard R. Fay (eds.)

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