Abstract:
:Hearing impairment is one of the most common sensory disease, of which more than 50% is attributed to a genetic etiology. The goal of this research is to explore the genetic cause of a Chinese deafness pedigree who was excluded of GJB2, SLC26A4, or MtDNA12SrRNA variants. Three variants, c.3971C>A (p.A1324D), c.4011insA (p.Q1337Qfs∗22), and c.9690+1G>A, in the MYO15A gene were identified by targeted capture sequencing and Sanger sequencing, and the first two of them were novel. These variants were cosegregated with the disease in this family and absent in 200 normal hearing persons. They were concluded to be pathogenic mutations by phylogenetic analysis and structure modeling. Thus, the combined use of SNPScan assay and targeted capture sequencing is a high-efficiency and cost-effective screening procedure for hereditary hearing loss. Genetic counseling would be important for this family, and our finding would be a great supplement to the mutation spectrum of MYO15A.
journal_name
Neural Plastjournal_title
Neural plasticityauthors
Zhang F,Xu L,Xiao Y,Li J,Bai X,Wang Hdoi
10.1155/2018/5898025subject
Has Abstractpub_date
2018-04-05 00:00:00pages
5898025eissn
2090-5904issn
1687-5443journal_volume
2018pub_type
杂志文章abstract::Although quantitative analysis of the sleep electroencephalogram (EEG) has uncovered important aspects of brain activity during sleep in adolescents and adults, similar findings from preschool-age children remain scarce. This study utilized our time-frequency method to examine sleep oscillations as characteristic feat...
journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2017/6160959
更新日期:2017-01-01 00:00:00
abstract::Traumatic brain injury (TBI) is a serious medical and social problem worldwide. Because of the complex pathophysiological mechanisms of TBI, effective pharmacotherapy is still lacking. The microglial cells are resident tissue macrophages located in the brain and have two major polarization states, M1 phenotype and M2 ...
journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2017/5405104
更新日期:2017-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,随机对照试验
doi:10.1155/2018/9875326
更新日期:2018-03-12 00:00:00
abstract::Inhibitors of HMG-CoA reductase (statins), widely used to lower cholesterol in coronary heart and vascular disease, are effective drugs in reducing the risk of stroke and improving its outcome in the long term. After ischemic stroke, cardiac autonomic dysfunction and psychological problems are common complications rel...
journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2015/585783
更新日期:2015-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/NP.2000.179
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2017/1892612
更新日期:2017-01-01 00:00:00
abstract::Homeostatic synaptic plasticity is a negative-feedback response employed to compensate for functional disturbances in the nervous system. Typically, synaptic activity is strengthened when neuronal firing is chronically suppressed or weakened when neuronal activity is chronically elevated. At both the whole cell and en...
journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2012/825364
更新日期:2012-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2013/698528
更新日期:2013-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2015/653727
更新日期:2015-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2020/8884318
更新日期:2020-12-08 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2020/8859394
更新日期:2020-11-25 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2021/8868447
更新日期:2021-01-12 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2020/8886715
更新日期:2020-11-13 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2016/9131284
更新日期:2016-01-01 00:00:00
abstract::Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by expansion of the CGG trinucleotide repeat affecting the fmr1 gene on X chromosome, resulting in silence of the fmr1 gene and failed expression of FMRP. Patients with FXS suffer from cognitive impairment, sensory integration deficits, learn...
journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2016/9353929
更新日期:2016-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2018/8525706
更新日期:2018-12-06 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2016/6029241
更新日期:2016-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2015/434127
更新日期:2015-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2020/1859431
更新日期:2020-02-07 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2019/2357107
更新日期:2019-07-28 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/NP.2001.83
更新日期:2001-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2020/8823111
更新日期:2020-11-09 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2011/286073
更新日期:2011-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2018/4960869
更新日期:2018-05-22 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/NP.2003.247
更新日期:2003-01-01 00:00:00
abstract:Background:Parkinson's disease (PD) patients experience cognitive impairment which has been related to reduced quality of life and functional disability. These symptoms usually progress until dementia occurs. Some studies have been published assessing the efficacy of cognitive treatments on improving cognition, functio...
journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2018/2651918
更新日期:2018-05-06 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2016/1478684
更新日期:2016-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2017/5181925
更新日期:2017-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章
doi:10.1155/2012/687659
更新日期:2012-01-01 00:00:00
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journal_title:Neural plasticity
pub_type: 杂志文章,评审
doi:10.1155/2017/7219461
更新日期:2017-01-01 00:00:00