Function and expression pattern of nonsyndromic deafness genes.
Function and expression pattern of nonsyndromic deafness genes.
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DOI：
10.2174/156652409788488775
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发表时间：
2009-06
影响因子：
2.5
通讯作者：
Van Camp G
中科院分区：
文献类型：
--
作者：
Hilgert N;Smith RJ;Van Camp G
Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overview of the inner ear function and expression pattern of these genes. In general, they are involved in hair bundle morphogenesis, form constituents of the extracellular matrix, play a role in cochlear ion homeostasis or serve as transcription factors. During the past few years, our knowledge of genes involved in hair bundle morphogenesis has increased substantially. We give an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in this process, highlighting proteins that interact to form macromolecular complexes. For every gene, we also summarize its expression pattern and impact on hearing at the functional level. Gene-specific cochlear expression is summarized in a unique table by structure/cell type and is illustrated on a cochlear cross-section, which is available online via the Hereditary Hearing Loss Homepage. This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.
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影响因子：
4
作者：
del Castillo, FJ;Rodríguez-Ballesteros, M;del Castillo, I
通讯作者：
del Castillo, I
DOI：
10.1007/s10162-008-0110-6
发表时间：
2008-03-01
影响因子：
2.4
作者：
Braunstein, Evan M.;Crenshaw, E. Bryan, III;Adams, Joe C.
通讯作者：
Adams, Joe C.
影响因子：
9.8
作者：
Abe, S;Katagiri, T;Nakamura, Y
通讯作者：
Nakamura, Y
DOI：
10.1073/pnas.2334417100
发表时间：
2003-11-25
影响因子：
11.1
作者：
Belyantseva, IA;Boger, ET;Friedman, TB
通讯作者：
Friedman, TB
影响因子：
3.9
作者：
Collin, Rob W. J.;Kalay, Ersan;Kremer, Hannie
通讯作者：
Kremer, Hannie