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 …

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

N Hernandez, G Bucciol, L Moens, J Le Pen… - Journal of Experimental …, 2019 - rupress.org
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 …

[HTML][HTML] Human inherited complete STAT2 deficiency underlies inflammatory viral diseases

G Bucciol, L Moens, M Ogishi… - The Journal of …, 2023 - Am Soc Clin Investig
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 …

[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 …

[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 …

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 …

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 …

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 …

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 …

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 …