Literature DB >> 32524838

GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana.

Samuel M Adadey1,2, Kevin K Esoh, Osbourne Quaye1, Geoffrey K Amedofu, Gordon A Awandare1, Ambroise Wonkam2.   

Abstract

IMPACT STATEMENT: Although connexins are known to be the major genetic factors associated with HI, only a few studies have investigated GJB4 and GJC3 variants among hearing-impaired patients. This study is the first to report GJB4 and GJC3 variants from an African HI cohort. We have demonstrated that GJB4 and GJC3 genes may not contribute significantly to HI in Ghana, hence these genes should not be considered for routine clinical screening in Ghana. However, it is important to study a larger population to determine the association of GJB4 and GJC3 variants with HI.

Entities:  

Keywords:  GJB4; GJC3; hearing impairment; in silico; protein modeling; virtual screening

Mesh：

Substances：

Year:  2020        PMID： 32524838      PMCID： PMC7441344          DOI： 10.1177/1535370220931035

Source DB:  PubMed          Journal:  Exp Biol Med (Maywood)        ISSN： 1535-3699


  67 in total

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Journal:  Glia       Date:  2006-04-15       Impact factor: 7.452

2.  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

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Authors:  Daniz Kooshavar; Mohammad Amin Tabatabaiefar; Effat Farrokhi; Marziye Abolhasani; Mohammad-Reza Noori-Daloii; Morteza Hashemzadeh-Chaleshtori
Journal:  Int J Pediatr Otorhinolaryngol       Date:  2012-11-08       Impact factor: 1.675

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Journal:  Genet Test Mol Biomarkers       Date:  2010-08

6.  Characterization of connexin30.3-deficient mice suggests a possible role of connexin30.3 in olfaction.

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Review 7.  Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013.

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8.  Agonist-bound adenosine A2A receptor structures reveal common features of GPCR activation.

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9.  Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods.

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10.  Ranking non-synonymous single nucleotide polymorphisms based on disease concepts.

Authors:  Hashem A Shihab; Julian Gough; Matthew Mort; David N Cooper; Ian N M Day; Tom R Gaunt
Journal:  Hum Genomics       Date:  2014-06-30       Impact factor: 4.639
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  3 in total

1.  Whole exome sequencing reveals a biallelic frameshift mutation in GRXCR2 in hearing impairment in Cameroon.

Authors:  Ambroise Wonkam; Kamogelo Lebeko; Shaheen Mowla; Jean Jacques Noubiap; Mike Chong; Guillaume Pare
Journal:  Mol Genet Genomic Med       Date:  2021-02-02       Impact factor: 2.473

Review 2.  Hearing loss in Africa: current genetic profile.

Authors:  Samuel Mawuli Adadey; Edmond Wonkam-Tingang; Elvis Twumasi Aboagye; Osbourne Quaye; Gordon A Awandare; Ambroise Wonkam
Journal:  Hum Genet       Date:  2021-10-05       Impact factor: 5.881

Review 3.  Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.

Authors:  Samuel Mawuli Adadey; Edmond Wonkam-Tingang; Elvis Twumasi Aboagye; Daniel Wonder Nayo-Gyan; Maame Boatemaa Ansong; Osbourne Quaye; Gordon A Awandare; Ambroise Wonkam
Journal:  Life (Basel)       Date:  2020-10-28
  3 in total

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