Zobrazeno 1 - 10
of 529
pro vyhledávání: '"Hereditary hearing loss"'
Publikováno v:
BMC Research Notes, Vol 17, Iss 1, Pp 1-7 (2024)
Abstract Objectives The crystal structure of the six protomers of gap junction protein beta 2 (GJB2) enables prediction of the effect(s) of an amino acid substitution, thereby facilitating investigation of molecular pathogenesis of missense variants
Externí odkaz:
https://doaj.org/article/f1290a6c499d4b849999321a6c86750c
Publikováno v:
Journal of the Pakistan Medical Association, Vol 74, Iss 4 (2024)
Objective: To analyse the demographic and clinical variables in children having undergone cochlear implant surgery because of deafness. Method: The cross-sectional study was conducted from January to November 2022at the Centre for Research in Exper
Externí odkaz:
https://doaj.org/article/10c49b8cba8144d685ca59ab39cb0fb0
Publikováno v:
Journal of Otorhinolaryngology, Hearing and Balance Medicine, Vol 5, Iss 1, p 6 (2024)
The universal newborn hearing screening (NHS) program was implemented in Russia in 2008 to replace the high-risk newborn hearing screening. More than 95% coverage and significant improvement in early detection and intervention is achieved. Meanwhile,
Externí odkaz:
https://doaj.org/article/cc34dd528ae24c3c8da181b676d1e182
Autor:
Longlong Zhang, Hui Wang, Mengzhao Xun, Honghai Tang, Jinghan Wang, Jun Lv, Biyun Zhu, Yuxin Chen, Daqi Wang, Shaowei Hu, Ziwen Gao, Jianping Liu, Zheng-Yi Chen, Bing Chen, Huawei Li, Yilai Shu
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 31, Iss , Pp 101154- (2023)
Pathogenic mutations in the OTOF gene cause autosomal recessive hearing loss (DFNB9), one of the most common forms of auditory neuropathy. There is no biological treatment for DFNB9. Here, we designed an OTOF gene therapy agent by dual-adeno-associat
Externí odkaz:
https://doaj.org/article/9201e8bb5dec4aaeb92965f6e0ea9271
Autor:
Barbara Vona, Sabrina Regele, Aboulfazl Rad, Nicola Strenzke, Justin A. Pater, Katrin Neumann, Marc Sturm, Tobias B. Haack, Antoinette G. Am Zehnhoff-Dinnesen
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Genetic heterogeneity makes it difficult to identify the causal genes for hearing loss. Studies from previous decades have mapped numerous genetic loci, providing critical supporting evidence for gene discovery studies. Despite widespread sequencing
Externí odkaz:
https://doaj.org/article/4ddb5e946428434ea3e9e48d7fcebbaf
Autor:
Yaşar Kemal Duymaz, Ahmet M. Tekin, Patrick D’Haese, Şamil Şahin, Burak Erkmen, Ahmet Adnan Cırık, Vedat Topsakal
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
IntroductionThe present study aimed at investigating the readability of online sources on hereditary hearing impairment (HHI).MethodsIn August 2022, the search terms “hereditary hearing impairment”, “genetic deafness”, hereditary hearing loss
Externí odkaz:
https://doaj.org/article/6fdd9cd41f0748819bb5e989db5b4ee1
Akademický článek
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Autor:
Olga L. Posukh, Ekaterina A. Maslova, Valeriia Yu. Danilchenko, Marina V. Zytsar, Konstantin E. Orishchenko
Publikováno v:
Biomolecules, Vol 13, Iss 10, p 1521 (2023)
One of the most common forms of genetic deafness has been predominantly associated with pathogenic variants in the GJB2 gene, encoding transmembrane protein connexin 26 (Cx26). The Cx26 molecule consists of an N-terminal domain (NT), four transmembra
Externí odkaz:
https://doaj.org/article/5bbd6f9521204f649ff5bb0021773879
Akademický článek
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Akademický článek
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