Autosomal dominant non-syndromic hearing loss (DFNA): a comprehensive narrative review
M Aldè, G Cantarella, D Zanetti, L Pignataro… - Biomedicines, 2023 - mdpi.com
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …
Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines
Vaccination against measles, mumps, and rubella (MMR) and yellow fever (YF) with live
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
attenuated viruses can rarely cause life-threatening disease. Severe illness by MMR …
[HTML][HTML] Human inherited complete STAT2 deficiency underlies inflammatory viral diseases
Type I IFNs, a family of cytokines that signal through a single receptor and signaling
mechanism, were originally named for their ability to interfere with viral replication. While …
mechanism, were originally named for their ability to interfere with viral replication. While …
[HTML][HTML] Small fish, big prospects: using zebrafish to unravel the mechanisms of hereditary hearing loss
B Vona, J Doll, MAH Hofrichter, T Haaf, GK Varshney - Hearing research, 2020 - Elsevier
Over the past decade, advancements in high-throughput sequencing have greatly enhanced
our knowledge of the mutational signatures responsible for hereditary hearing loss. In its …
our knowledge of the mutational signatures responsible for hereditary hearing loss. In its …
[HTML][HTML] Genetic hearing loss and gene therapy
NT Carpena, MY Lee - Genomics & informatics, 2018 - ncbi.nlm.nih.gov
Genetic hearing loss crosses almost all the categories of hearing loss which includes the
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
following: conductive, sensory, and neural; syndromic and nonsyndromic; congenital …
Genetics of postlingual sensorineural hearing loss
S Ahmadmehrabi, J Brant, DJ Epstein… - The …, 2021 - Wiley Online Library
Literature and clinical practice around adult‐onset hearing loss (HL) has traditionally
focused on environmental risk factors, including noise exposure, ototoxic drug exposure …
focused on environmental risk factors, including noise exposure, ototoxic drug exposure …
A novel PLS1 c. 981+ 1G> A variant causes autosomal‐dominant hereditary hearing loss in a family
L Xu, X Wang, J Li, L Chen, H Wang, S Xu… - Clinical …, 2023 - Wiley Online Library
The fimbrin protein family contains a variety of proteins, among which Plastin1 (PLS1) is an
important member. According to recent studies, variations in the coding region of the PLS1 …
important member. According to recent studies, variations in the coding region of the PLS1 …
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss
TY Cui, X Gao, SS Huang, YY Sun, SQ Zhang… - Neural …, 2020 - Wiley Online Library
Hereditary hearing loss is one of the most common sensory disabilities worldwide. Mutation
of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause …
of POU domain class 4 transcription factor 3 (POU4F3) is considered the pathogenic cause …
Gene therapy development in hearing research in China
Z Zhang, J Wang, C Li, W Xue, Y Xing, F Liu - Gene Therapy, 2020 - nature.com
Sensorineural hearing loss, the most common form of hearing impairment, is mainly
attributable to genetic mutations or acquired factors, such as aging, noise exposure, and …
attributable to genetic mutations or acquired factors, such as aging, noise exposure, and …
Gene4HL: an integrated genetic database for hearing loss
S Huang, G Zhao, J Wu, K Li, Q Wang, Y Fu… - Frontiers in …, 2021 - frontiersin.org
Hearing loss (HL) is one of the most common disabilities in the world. In industrialized
countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by …
countries, HL occurs in 1–2/1,000 newborns, and approximately 60% of HL is caused by …