Building genomic capacity for precision health in Africa

A Olono, V Mitesser, A Happi, C Happi - Nature Medicine, 2024 - nature.com
The African continent is poised to have a pivotal role in the global population landscape,
with the United Nations projecting a population of 2.5 billion (more than 25% of the global …

Hereditary hearing loss; about the known and the unknown

H Kremer - Hearing research, 2019 - Elsevier
Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

AR Fetoni, V Zorzi, F Paciello, G Ziraldo, C Peres… - Redox biology, 2018 - Elsevier
Mutations in GJB2, the gene that encodes connexin 26 (Cx26), are the most common cause
of sensorineural hearing impairment. The truncating variant 35delG, which determines a …

Redox imbalance as a common pathogenic factor linking hearing loss and cognitive decline

F Paciello, C Ripoli, AR Fetoni, C Grassi - Antioxidants, 2023 - mdpi.com
Experimental and clinical data suggest a tight link between hearing and cognitive functions
under both physiological and pathological conditions. Indeed, hearing perception requires …

Oxidative stress and inflammation cause auditory system damage via glial cell activation and dysregulated expression of gap junction proteins in an experimental …

F Paciello, A Pisani, R Rolesi, R Montuoro… - Journal of …, 2024 - Springer
Background Redox imbalance and inflammation have been proposed as the principal
mechanisms of damage in the auditory system, resulting in functional alterations and …

Preservation of developmental spontaneous activity enables early auditory system maturation in deaf mice

CJ Kersbergen, TA Babola, PO Kanold… - PLoS biology, 2023 - journals.plos.org
Intrinsically generated neural activity propagates through the developing auditory system to
promote maturation and refinement of sound processing circuits prior to hearing onset. This …

Inner ear connexin channels: roles in development and maintenance of cochlear function

F Mammano - Cold Spring Harbor perspectives …, 2019 - perspectivesinmedicine.cshlp.org
Connexin 26 and connexin 30 are the prevailing isoforms in the epithelial and connective
tissue gap junction systems of the developing and mature cochlea. The most frequently …

Advances in understanding of presbycusis

KO Tawfik, K Klepper, J Saliba… - Journal of …, 2020 - Wiley Online Library
The pathophysiology of age‐related hearing loss (ARHL), or presbycusis, involves a
complex interplay between environmental and genetic factors. The fundamental …

Connexin genes variants associated with non-syndromic hearing impairment: a systematic review of the global burden

SM Adadey, E Wonkam-Tingang, E Twumasi Aboagye… - Life, 2020 - mdpi.com
Mutations in connexins are the most common causes of hearing impairment (HI) in many
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …

Molecular epidemiology of Chinese Han deaf patients with bi-allelic and mono-allelic GJB2 mutations

X Yu, Y Lin, J Xu, T Che, L Li, T Yang, H Wu - Orphanet Journal of Rare …, 2020 - Springer
Background Recessive mutations in GJB2 is the most common cause of genetic hearing
loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 …