By Jochen Schacht, Richard R. Fay
The previous decade has introduced nice advances in our knowing of the mechanisms underlying auditory pathologies. This quantity provides fresh advancements in examine and their capability translation to the medical surroundings. It brings jointly the fundamental and scientific sciences very well in that whereas such a lot chapters are written by means of simple scientists, each one subject has direct medical software or implication.
Read Online or Download Auditory Trauma, Protection, and Repair (Springer Handbook of Auditory Research) PDF
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Extra info for Auditory Trauma, Protection, and Repair (Springer Handbook of Auditory Research)
An explanation of why certain mutations in PCDH15 cause NSHL, while others bring on a set of additional symptoms and cause SHL, was suggested (Ahmed et al. 2003b). 1) mutations render the phenotype into NSHL (DFNB23) only. Clues regarding the function of protocadherin 15 in the hearing process emerged from the study of wild type and Ames waltzer mice. Normal expression of protocadherin 15 was seen at embryonic day 16, overlapping the period during which stereocilia begin their formation. On the other hand, the stereocilia of Ames waltzer were remarkably disoriented, and displayed degeneration.
N Engl J Med 331:425–431. Coucke PJ, Van Hauwe P, Kelley PM, Kunst H, Schatteman I, Van Velzen D, Meyers J, Ensink RJ, Verstreken M, Declau F, Marres H, Kastury K, Bhasin S, McGuirt WT, Smith RJ, Cremers CW, Van de Heyning P, Willems PJ, Smith SD, Van Camp G (1999) Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet 8:1321–1328. del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F (2002) A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
Courtesy of Adi Sabag and Karen Avraham; Fleishman et al. ) 36 E. B. Avraham although it leads to normal gap junction localization, it also leads to abnormal gating (Skerrett et al. 2004). The espin actin-bundling proteins are involved in deafness in both jerker mice and DFNB36 (Zheng et al. 2000; Naz et al. 2004). A new function for this protein, the ability to assemble a large actin bundle when targeted to a specific subcellular location, was revealed by transfection into neuronal and other cells (Loomis et al.