| A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia. | A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
Zhan Y, Luo S, Pi Z, Zhang G., Free PMC Article | 07/31/2021 |
| GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort. | GJB2 and GJB6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort.
Buonfiglio P, Bruque CD, Luce L, Giliberto F, Lotersztein V, Menazzi S, Paoli B, Elgoyhen AB, Dalamón V., Free PMC Article | 07/17/2021 |
| Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis. | Dysregulation of Connexin Expression Plays a Pivotal Role in Psoriasis.
O'Shaughnessy EM, Duffy W, Garcia-Vega L, Hussey K, Burden AD, Zamiri M, Martin PE., Free PMC Article | 07/17/2021 |
| Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews. | Role of GJB2 and GJB6 in Iranian Nonsyndromic Hearing Impairment: From Molecular Analysis to Literature Reviews.
Falah M, Houshmand M, Balali M, Asghari A, Bagher Z, Alizadeh R, Farhadi M. | 11/21/2020 |
| None of the patients had targeted deletions in the GJB6 gene. | Frequency of GJB2 mutations, GJB6-D13S1830 and GJB6-D13S1854 deletions among patients with non-syndromic hearing loss from the central region of Iran.
Naddafnia H, Noormohammadi Z, Irani S, Salahshoorifar I., Free PMC Article | 07/18/2020 |
| Study shows that Cx30 expression localized onto oligodendrocytes cells and myelinated fibers is decreased in deep cortical layers of the anterior cingulate cortex in male-depressed suicides. | Evidence of decreased gap junction coupling between astrocytes and oligodendrocytes in the anterior cingulate cortex of depressed suicides.
Tanti A, Lutz PE, Kim J, O'Leary L, Théroux JF, Turecki G, Mechawar N., Free PMC Article | 07/11/2020 |
| No deletion of GJB6 was detected in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions. | The spectrum of GJB2 gene mutations in Algerian families with nonsyndromic hearing loss from Sahara and Kabylie regions.
Talbi S, Bonnet C, Boudjenah F, Mansouri MT, Petit C, Ammar Khodja F. | 11/30/2019 |
| results showed the A88V and G11R mutants of GJB6 may activate the downstream execution factor, caspase-3, through the extrinsic apoptotic pathway mediated by caspase-8 and the intrinsic apoptotic pathway mediated by caspase-9; study provides further clarification on mechanisms underlying the effect of mutant variants A88V and G11R of the GJB6 gene on the induction of HaCaT cell apoptosis | Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.
Lu Y, Zhang R, Wang Z, Zhou S, Song Y, Chen L, Chen N, Liu W, Ji C, Wu W, Zhang L., Free PMC Article | 10/20/2018 |
| Investigation of stemness-related CD133 and cMyc in human samples and rat xenografts exhibited a reciprocal relationship between Cx30 and IGF-1R in the low and high grades (HG) of glioma. Cx30 was completely abolished in HG; levels of IGF-1R, CD133 and cMyc expression were positively correlated with HG. Cx30 transfection could attenuate the malignant burden of glioma in rat xenografts. | Implication of connexin30 on the stemness of glioma: connexin30 reverses the malignant phenotype of glioma by modulating IGF-1R, CD133 and cMyc.
Arun S, Ravisankar S, Vanisree AJ. | 07/14/2018 |
| Genotype may affect deafness severity, but environmental and other genetic factors may also modulate the severity and evolution of GJB2-GJB6 deafness. | GJB2 mutations: Genotypic and phenotypic correlation in a cohort of 690 hearing-impaired patients, toward a new mutation?
Leclère JC, Le Gac MS, Le Maréchal C, Ferec C, Marianowski R. | 12/2/2017 |
| data reveals that a recurrent mutation p.A88V in GJB6 played a pathogenic role in a large Chinese family and emphasizes the importance of gene test in this congenital disorder | A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Yang R, Hu Z, Kong Q, Li W, Zhang L, Du X, Huang S, Xia X, Sang H. | 05/7/2017 |
| Cx26 and Cx30 proteins thus seem not to be co-expressed but to form closely associated assemblies of gap junction plaques. | Super-resolution structured illumination fluorescence microscopy of the lateral wall of the cochlea: the Connexin26/30 proteins are separately expressed in man.
Liu W, Edin F, Blom H, Magnusson P, Schrott-Fischer A, Glueckert R, Santi PA, Li H, Laurell G, Rask-Andersen H. | 05/6/2017 |
| del(GJB6-D13S1854) was highly prevalent in this sample of deaf Syrian families. | First report of prevalence c.IVS1+1G>A and del (GJB6-13S1854) mutations in Syrian families with non-syndromic sensorineural hearing loss.
Al-Achkar W, Al-Halabi B, Ali B, Moassass F. | 03/25/2017 |
| identification and functional characterization of a new Cx30 mutation in a family with hearing impairment in association with previously unreported skin anomalies | Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
Pandey N, Xavier DF, Chatterjee A, Mani RS, Hiremagalore R, Tharakan A, Rajashekhar B, Anand A. | 06/4/2016 |
| Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment. | Screening of GJB6 gene large deletions among Syrians with congenital hearing impairment.
Zaidieh T, Habbal W, Monem F. | 05/28/2016 |
| Periostin is a robust marker of glioma malignancy and potential tumor recurrence. Abrogation of glioma stem cell tumorigenicity after periostin inhibition provides support for exploring the therapeutic impact of targeting periostin. | Connexin 30 expression inhibits growth of human malignant gliomas but protects them against radiation therapy.
Artesi M, Kroonen J, Bredel M, Nguyen-Khac M, Deprez M, Schoysman L, Poulet C, Chakravarti A, Kim H, Scholtens D, Seute T, Rogister B, Bours V, Robe PA., Free PMC Article | 03/19/2016 |
| results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans. | Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
Grillo AP, de Oliveira FM, de Carvalho GQ, Medrano RF, da Silva-Costa SM, Sartorato EL, de Oliveira CA., Free PMC Article | 03/5/2016 |
| found that connexin 26 (Cx26) and Cx30 GJs readily diffuse within the plaque structures, whereas Cx43 GJs remain persistently immobile for more than 2 min after bleaching | Connexin Type and Fluorescent Protein Fusion Tag Determine Structural Stability of Gap Junction Plaques.
Stout RF Jr, Snapp EL, Spray DC., Free PMC Article | 01/23/2016 |
| GJB6 deletions were not detected. | GJB2 and GJB6 mutations are an infrequent cause of autosomal-recessive nonsyndromic hearing loss in residents of Mexico.
Hernández-Juárez AA, Lugo-Trampe Jde J, Campos-Acevedo LD, Lugo-Trampe A, Treviño-González JL, de-la-Cruz-Ávila I, Martínez-de-Villarreal LE. | 01/2/2016 |
| An absence of GJB6 mutations and low frequency of SLC26A4 mutations suggest that additional genetic factors may contribute to nonsyndromic hearing loss in India. | Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
Adhikary B, Ghosh S, Paul S, Bankura B, Pattanayak AK, Biswas S, Maity B, Das M. | 12/19/2015 |
| Results show high mRNA and protein levels for Cx43 and Cx30 in breast cancer but they are correlated with improved and bad outcome respectively suggesting that they may serve as prognostic markers in breast cancer. | Correlations of differentially expressed gap junction connexins Cx26, Cx30, Cx32, Cx43 and Cx46 with breast cancer progression and prognosis.
Teleki I, Szasz AM, Maros ME, Gyorffy B, Kulka J, Meggyeshazi N, Kiszner G, Balla P, Samu A, Krenacs T., Free PMC Article | 12/5/2015 |
| Mutations in GJB2, GJB6 and GJA1 are not a major cause of non-syndromic deafness in black Africans | No evidence for clinical utility in investigating the connexin genes GJB2, GJB6 and GJA1 in non-syndromic hearing loss in black Africans.
Wonkam A, Bosch J, Noubiap JJ, Lebeko K, Makubalo N, Dandara C. | 06/20/2015 |
| study found A c.31G>A (p.G11R) missense mutation in GJB6 gene is the genotypic characteristic for hidrotic ectodermal dysplasia in Chinese population | Identification of a known GJB6 mutation in an autosomal dominant inherited Chinese family with hidrotic ectodermal dysplasia.
Mousumi T, Xiong Z, Lu L, Liu S, Xia K, Hu Z. | 05/9/2015 |
| A new extended deletion in the GJB2 and GJB6 gene sequences (approximately 101 kb in size; NC_000013.10:g.20,757,021_20,858,394del), detected in three unrelated Russian patients, was described and characterized. | [New recurrent extended deletion, including GJB2 and GJB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive type of inheritance].
Bliznets EA, Makienko ON, Okuneva EG, Markova TG, Poliakov AV. | 04/11/2015 |
| Mutations in GJB6 and GJA1 are not a major cause of nonsyndromic deafness in this group of Africans from Cameroon and South Africa. there is no sufficient evidence to support their testing in a clinical setting for individuals of African ancestry. | In search of genetic markers for nonsyndromic deafness in Africa: a study in Cameroonians and Black South Africans with the GJB6 and GJA1 candidate genes.
Bosch J, Lebeko K, Nziale JJ, Dandara C, Makubalo N, Wonkam A., Free PMC Article | 04/4/2015 |