Associated Papers
A Connexin Gene (GJB3) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update.
Gao Y et al.
Frontiers in Genetics, 2022
Gjb3 Gene Mutations in Non-Syndromic Hearing Loss of Bloch, Kurd, and Turkmen Ethnicities in Iran.
Aliazami F et al.
Iranian Journal of Public Health, 2020
Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden.
Adadey SM et al.
Life (basel, Switzerland), 2020
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency.
Rim JH et al.
Scientific Reports, 2019
GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K et al.
Journal of Clinical Laboratory Analysis, 2018
Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.
Azaiez H et al.
American Journal of Human Genetics, 2018
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
Abou Tayoun AN et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.
Vona B et al.
Bmc Medical Genetics, 2014
Experience of targeted Usher exome sequencing as a clinical test.
Besnard T et al.
Molecular Genetics & Genomic Medicine, 2014
Connexin mutations in Brazilian patients with skin disorders with or without hearing loss.
Alexandrino F et al.
American Journal of Medical Genetics. Part A, 2009
Mutation analysis of the Cx26, Cx30, and Cx31 genes in autosomal recessive nonsyndromic hearing impairment.
Gürtler N et al.
Acta Oto-laryngologica, 2008
Coincidence of mutations in different connexin genes in Hungarian patients.
Tóth T et al.
International Journal of Molecular Medicine, 2007
Differentiation of organotypic epidermis in the presence of skin disease-linked dominant-negative Cx26 mutants and knockdown Cx26.
Thomas T et al.
The Journal of Membrane Biology, 2007
[Congenital hearing loss. Molecular genetic diagnosis of connexin genes and genetic counselling].
Kunstmann E et al.
Hno, 2005
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria.
Frei K et al.
Hearing Research, 2004
Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.
Feldmann D et al.
European Journal of Human Genetics : Ejhg, 2004
Screening for mutations in the GJB3 gene in Brazilian patients with nonsyndromic deafness.
Alexandrino F et al.
Journal of Applied Genetics, 2004
Specific amino-acid residues in the N-terminus and TM3 implicated in channel function and oligomerization compatibility of connexin43.
Lagree V et al.
Journal of Cell Science, 2003
Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations.
Richard G et al.
The Journal of Investigative Dermatology, 2003
Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro.
Rouan F et al.
Experimental Dermatology, 2003
Mutation analysis of Connexin 31 (GJB3) in sporadic non-syndromic hearing impairment.
Mhatre AN et al.
Clinical Genetics, 2003
Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
Di WL et al.
Human Molecular Genetics, 2002
[Study on mutations in the connexin 26 gene among Chinese with nonsyndromic hearing loss].
Ke X et al.
Zhonghua Er Bi Yan Hou Ke Za Zhi, 2001
R32W variant in Connexin 31: mutation or polymorphism for deafness and skin disease?
López-Bigas N et al.
European Journal of Human Genetics : Ejhg, 2001
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell DP et al.
European Journal of Human Genetics : Ejhg, 2000
Identification of seven novel SNPS (five nucleotide and two amino acid substitutions) in the connexin31 (GJB3) gene.
López-Bigas N et al.
Human Mutation, 2000
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.
Kelsell DP et al.
European Journal of Human Genetics : Ejhg, 2000
Cellular mechanisms of mutant connexins in skin disease and hearing loss.
Common JE et al.
Cell Communication & Adhesion, 0
Etiology of unilateral hearing loss in a national hereditary deafness repository.
Dodson KM et al.
American Journal of Otolaryngology, 0