Zobrazeno 1 - 10
of 612
pro vyhledávání: '"Progressive hearing loss"'
Publikováno v:
Journal of Medical Case Reports, Vol 18, Iss 1, Pp 1-5 (2024)
Abstract Background Mutations in the GJB2 gene, which encodes the protein connexin 26 and is involved in inner ear homeostasis, are identified in approximately 50% of patients with autosomal recessive nonsyndromic hearing loss, making it one of the p
Externí odkaz:
https://doaj.org/article/326290c3c54941beb850730f152f5e10
Autor:
Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-10 (2024)
Abstract Background Mutations in MPZL2, the characteristic genetic etiology of autosomal recessive deafness loci 111 (DFNB111), cause non-syndromic and moderate sensorineural hearing loss. Methods In this study, we analyzed the phenotype and genotype
Externí odkaz:
https://doaj.org/article/9056a91342b84ef7b12cc530b53a6390
Publikováno v:
JK Science, Vol 26, Iss 2 (2024)
Autoimmune inner ear disease (AIED) is a rare rheumatological cause of sensorineural hearing loss, accounting for less than 1% of worldwide hearing loss. It presents with rapidly progressive, unilateral or bilateral SNHL, often fluctuating. The progr
Externí odkaz:
https://doaj.org/article/9b73418cb96243ebb4a9be8a11ac108e
Publikováno v:
Current Issues in Molecular Biology, Vol 45, Iss 12, Pp 9413-9421 (2023)
This study aimed to investigate the transduction efficiency of triple adeno-associated virus (AAV) vectors in the cochleae of adult mice, focusing on large-gene-associated hearing loss (HL). Additionally, we sought to evaluate the feasibility of coch
Externí odkaz:
https://doaj.org/article/29cf7c29268d475ab23ea5801e185d32
Autor:
Vicky W. Zhang, Sanna Hou, Angela Wong, Christopher Flynn, Jane Oliver, Michelle Weiss, Stacey Milner, Teresa Y. C. Ching
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
ObjectivesThe aims of this study were to report the audiological characteristics of children with congenital unilateral hearing loss (UHL), examine the age at which the first reliable behavioural audiograms can be obtained, and investigate hearing ch
Externí odkaz:
https://doaj.org/article/ff57d38c8c344a23bf10e7eb50e4d306
Autor:
Mohamed Mohamed Elmoursy
Publikováno v:
The Egyptian Journal of Otolaryngology, Vol 38, Iss 1, Pp 1-9 (2022)
Abstract Background The most common radiologically detectable congenital inner ear anomaly is an enlarged vestibular aqueduct (EVA), which is associated with varying degrees of hearing loss and vestibular disorders. The purpose of this study was to a
Externí odkaz:
https://doaj.org/article/464635f896794495940f326829dced38
Autor:
María Lachgar-Ruiz, Matías Morín, Elisa Martelletti, Neil J. Ingham, Lorenzo Preite, Morag A. Lewis, Luciana Santos Serrão de Castro, Karen P. Steel, Miguel Ángel Moreno-Pelayo
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 8 (2023)
Externí odkaz:
https://doaj.org/article/c6c51b6550434d268a2800313a33a8f2
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Publikováno v:
Laryngoscope Investigative Otolaryngology, Vol 7, Iss 3, Pp 870-876 (2022)
Abstract Objective The aim of this study was to identify genetic etiology in two unrelated Chinese probands with progressive sensorineural hearing loss. Methods Two unrelated Chinese families were recruited. Genetic etiology was identified by targete
Externí odkaz:
https://doaj.org/article/b4be0febfb85433aa5787800a3d3b4df
Autor:
Morag A. Lewis, Neil J. Ingham, Jing Chen, Selina Pearson, Francesca Di Domenico, Sohinder Rekhi, Rochelle Allen, Matthew Drake, Annelore Willaert, Victoria Rook, Johanna Pass, Thomas Keane, David J. Adams, Abigail S. Tucker, Jacqueline K. White, Karen P. Steel
Publikováno v:
BMC Biology, Vol 20, Iss 1, Pp 1-27 (2022)
Abstract Background Mice carrying targeted mutations are important for investigating gene function and the role of genes in disease, but off-target mutagenic effects associated with the processes of generating targeted alleles, for instance using Cri
Externí odkaz:
https://doaj.org/article/65098ed95b304c7e91044004c6edaebd