نتایج جستجو برای: dfna
تعداد نتایج: 14 فیلتر نتایج به سال:
The controlled release of diclofenac sodium (DFNa) from a chitosan-oxidized konjac glucomannan (CTS-OKG) polymer film was studied. Konjac glucomannan (KGM) was initially oxidized by sodium periodate and then cross-linked to CTS via imine bonds (-C=N-) to form the new CTS-OKG copolymer. The DFNa loaded CTS-OKG polymers were characterized by Fourier transformed infrared spectroscopy (FT-IR) and X...
TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA) or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS), we screened 42 genes known to be responsible for huma...
ناشنوایی یک اختلال رایج حسی – عصبی در تمامی سنین می باشد که توسط عوامل محیطی ، ژنتیکی یا هر دو ایجاد می شود.از آنجا که این اختلال بسیار هتروژن بوده ،اساس ژنتیکی آن بسیار پیچیده است.تقریبا 70 درصد موارد ناشنوایی ارثی ، غیر سندرومی می باشد. این دسته از ناشنوایی بر اساس الگوی وراثتی ، به چهار نوع تقسیم می گردد: اتوزومی مغلوب(75-85%) ، اتوزومی غالب (15-25% )، وابسته به جنس و میتو- کندریایی( <1%). ...
Hearing impairment (HI) is the most frequent sensory defect with wide genetic heterogeneity. Approximately 80% of genetic hearing loss is non-syndromic and 15-25% of exhibit autosomal dominant inheritance. We analysed an Italian three generation family in which non-syndromic hearing impairment is transmitted as an autosomal dominant trait. Onset of HI in all affected subjects occurred in the se...
P rogressive hearing loss is a significant problem in all ageing populations. By the age of 80 years, nearly 50% of individuals have hearing loss that impairs their ability to communicate easily, leading to increasing social isolation. Progressive hearing loss in middle and late adulthood is considered multifactorial, with involvement of both genetic and environmental factors. In contrast, chil...
A pproximately 1 in 1000 children is born with a serious permanent hearing impairment (pre-lingual deafness), and it is estimated that more than half of these cases in developed countries are due to genetic factors. The prevalence of hearing loss increases dramatically with age; it is estimated that approximately 5% of people under 45 years of age have a significant loss of hearing, increasing ...
Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on ...
In this study, a five-generation Chinese family (family F013) with progressive autosomal dominant hearing loss was mapped to a critical region spanning 28.54 Mb on chromosome 9q31.3-q34.3 by linkage analysis, which was a novel DFNA locus, assigned as DFNA56. In this interval, there were 398 annotated genes. Then, whole exome sequencing was applied in three patients and one normal individual fro...
A pproximately 1 in 1000 children is born with a serious permanent hearing impairment (pre-lingual deafness), and it is estimated that more than half of these cases in developed countries are due to genetic factors. The prevalence of hearing loss increases dramatically with age; it is estimated that approximately 5% of people under 45 years of age have a significant loss of hearing, increasing ...
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