Hearing loss and congenital CMV infection: a systematic review

J Goderis, E De Leenheer, K Smets, H Van Hoecke… - …, 2014 - publications.aap.org
BACKGROUND AND OBJECTIVE: Hearing loss caused by congenital cytomegalovirus
(cCMV) infection was first observed in 1964. Today cCMV is the most common cause of …

[HTML][HTML] Optimal scheduling of demand side load management of smart grid considering energy efficiency

S Balouch, M Abrar, H Abdul Muqeet… - Frontiers in Energy …, 2022 - frontiersin.org
The purpose of this research is to provide power grid energy efficiency solutions. In this
paper, a comprehensive review and its optimal solution is proposed considering the various …

Whole-exome sequencing and its impact in hereditary hearing loss

T Atik, G Bademci, O Diaz-Horta, SH Blanton… - Genetics …, 2015 - cambridge.org
Next-generation sequencing (NGS) technologies have played a central role in the genetic
revolution. These technologies, especially whole-exome sequencing, have become the …

[HTML][HTML] In-depth genetic and molecular characterization of diaphanous related formin 2 (DIAPH2) and its role in the inner ear

C Chiereghin, M Robusto, MA Lewis, S Caetano… - Plos one, 2023 - journals.plos.org
Diaphanous related formins are regulatory cytoskeletal protein involved in actin elongation
and microtubule stabilization. In humans, defects in two of the three diaphanous genes …

Mutations in TOP2B cause autosomal‐dominant hereditary hearing loss via inhibition of the PI3K‐Akt signalling pathway

W Xia, J Hu, J Ma, J Huang, T Jing, L Deng… - FEBS …, 2019 - Wiley Online Library
Hereditary hearing impairment is a clinically and genetically heterogeneous disease. Whole‐
exome sequencing was performed on seven affected and six unaffected members in a large …

[HTML][HTML] Genetic etiology of nonsyndromic hearing loss in Hungarian patients

M Pál, D Nagy, A Neller, K Farkas… - International Journal of …, 2023 - mdpi.com
Hearing loss is the most prevalent sensory disorder worldwide. The majority of congenital
nonsyndromic hearing loss (NSHL) cases are caused by hereditary factors. Previously, the …

Applying a new adaptive genetic algorithm to study the layout of drilling equipment in semisubmersible drilling platforms

W Xiao, L Wu, X Tian, J Wang - Mathematical Problems in …, 2015 - Wiley Online Library
This study proposes a new selection method called trisection population for genetic
algorithm selection operations. In this new algorithm, the highest fitness of 2N/3 parent …

[HTML][HTML] Whole Exome Sequencing of Non-Syndromic Hearing Loss Patients

H Naddafnia, Z Noormohammadi, S Irani… - Iranian Journal of …, 2024 - ncbi.nlm.nih.gov
Background: Hearing loss is the second most common disease after mental retardation in
Iran. Autosomal recessive non-syndromic hearing loss (ARNSHL) is an extreme and highly …

Анализ спектра и частоты GJB2-мутаций у пациентов с врождёнными нарушениями слуха в Республике Саха (Якутия)

ВГ Пшенникова, НА Барашков, ФМ Терютин… - Медицинская …, 2015 - elibrary.ru
Мутации в гене GJB2, кодирующем белок коннексин 26 (Сх26), признаны основной
причиной врождённых нарушений слуха. В гене GJB2 известно более 300 различных …

Abnormal mRNA splicing but normal auditory brainstem response (ABR) in mice with the prestin (SLC26A5) IVS2-2A> G mutation

J Zhang, Z Liu, A Chang, J Fang, Y Men, Y Tian… - Mutation Research …, 2016 - Elsevier
Prestin is critical to OHC somatic motility and hearing sensitivity in mammals. Several
mutations of the human SLC26A5 gene have been associated with deafness. However …