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 …
populations. Our aim was to review the global burden of pathogenic and likely pathogenic …
[HTML][HTML] Connexins and the epithelial tissue barrier: a focus on connexin 26
L Garcia-Vega, EM O'Shaughnessy, A Albuloushi… - Biology, 2021 - mdpi.com
Epithelial tissue responds rapidly to environmental triggers and is constantly renewed. This
tissue is also highly accessible for therapeutic targeting. This review highlights the role of …
tissue is also highly accessible for therapeutic targeting. This review highlights the role of …
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 …
loss worldwide. The aim of this study is to determine the spectrum and frequency of GJB2 …
Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss
F Azadegan‐Dehkordi, R Ahmadi… - Annals of human …, 2019 - Wiley Online Library
Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …
condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes …
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
VG Pshennikova, NA Barashkov… - The Scientific World …, 2019 - Wiley Online Library
In silico predictive software allows assessing the effect of amino acid substitutions on the
structure or function of a protein without conducting functional studies. The accuracy of in …
structure or function of a protein without conducting functional studies. The accuracy of in …
[HTML][HTML] Mutations in GJB2 as major causes of autosomal recessive non-syndromic hearing loss: first report of c. 299-300delAT mutation in Kurdish population of Iran
F Azadegan-Dehkordi, T Bahrami… - Journal of Audiology …, 2019 - ncbi.nlm.nih.gov
Results A total of three different mutations were determined. Two of which [c. 35delG and c.-
23+ 1G> A (IVS1+ 1G> A)] were previously reported but (c. 299-300delAT) mutation was …
23+ 1G> A (IVS1+ 1G> A)] were previously reported but (c. 299-300delAT) mutation was …
Genetics of Hearing Impairment in North-Eastern Romania—A Cost-Effective Improved Diagnosis and Literature Review
Background: We have investigated the main genetic causes for non-syndromic hearing
impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania …
impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania …
High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect
MV Zytsar, MS Bady-Khoo, VY Danilchenko… - Genes, 2020 - mdpi.com
The mutations in the GJB2 gene (13q12. 11, MIM 121011) encoding transmembrane protein
connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide …
connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide …
Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare …
OL Posukh, MV Zytsar, MS Bady-Khoo… - Genes, 2019 - mdpi.com
Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive
deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic …
deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic …
Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia
MV Zytsar, NA Barashkov, MS Bady-Khoo… - BMC medical …, 2018 - Springer
Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and
prevalence are specific for various populations. The well-known mutation c. 35delG is more …
prevalence are specific for various populations. The well-known mutation c. 35delG is more …