| Impairment of alpha-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion. | Impairment of α-tubulin and F-actin interactions of GJB3 induces aneuploidy in urothelial cells and promotes bladder cancer cell invasion.
Liu J, Wang X, Jiang W, Azoitei A, Eiseler T, Eckstein M, Hartmann A, Stilgenbauer S, Elati M, Hohwieler M, Kleger A, John A, Wezel F, Zengerling F, Bolenz C, Günes C., Free PMC Article | 07/25/2024 |
| Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China. | Mutation analysis of GJB2, SLC26A4, GJB3 and mtDNA12SrRNA genes in 251 non-syndromic hearing loss patients in Fujian, China.
Xiong Y, Chen M, Wang H, Chen L, Huang H, Xu L. | 01/10/2024 |
| The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China. | The mutation frequencies of GJB2, GJB3, SLC26A4 and MT-RNR1 of patients with severe to profound sensorineural hearing loss in northwest China.
Liu XW, Wang JC, Wang SY, Li SJ, Zhu YM, Ding WJ, Xu CY, Duan L, Xu BC, Guo YF. | 12/26/2020 |
| Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B. | Case of erythrokeratodermia variabilis successfully treated with narrowband ultraviolet B.
Okuda K, Nishida E, Tori K, Matubara A, Sagawa Y, Takeichi T, Akiyama M, Morita A. | 09/26/2020 |
| A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. | A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death.
Easton JA, Albuloushi AK, Kamps MAF, Brouns GHMR, Broers JLV, Coull BJ, Oji V, van Geel M, van Steensel MAM, Martin PE. | 09/12/2020 |
| Four patients were identified to carry the GJB3 mutation in a heterozygous state, including three with c.538C > T and one with c.547G > A | Mutation analysis of common deafness-causing genes among 506 patients with nonsyndromic hearing loss from Wenzhou city, China.
Xiang YB, Tang SH, Li HZ, Xu CY, Chen C, Xu YZ, Ding LR, Xu XQ. | 08/3/2019 |
| Here, we reported a novel compound heterozygous mutations of GJB3 gene in a Chinese EKPV family with autosomal recessive inheritance pattern. | Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressiva.
Deng Y, Wang H, Mou Y, Zeng Q, Xiong X., Free PMC Article | 07/6/2019 |
| GJB3 gene mutation was not involved with hearing loss in Shanghai area. | [Analysis of mutations of 4 common genes among 216 patients with non-syndromic hearing impairment].
Li C, Lu D, Chen X, Huang B, Chen K, Liu X, Hu A, Zhang Y, Xue X, Xing Y, Yan Z, Dong X. | 03/30/2019 |
| The results of this study showed that GJB3 mutants appear to account for a small proportion in double heterozygous state with autosomal recessive GJB2 mutation . | GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?
Chen K, Wu X, Zong L, Jiang H., Free PMC Article | 12/22/2018 |
| Almost half of the children with sensorineural hearing loss carried a common deafness-related mutation, and nearly one-third carried a pathogenic mutation. At least one mutated allele was detected in 48 patients and 30 patients carried pathogenic mutations. Among all the detected mutations, the most common were GJB2 c.235delC and SLC26A4 c.919-2A>G. | Prevalence of mutations in the GJB2, SLC26A4, GJB3, and MT-RNR1 genes in 103 children with sensorineural hearing loss in Shaoxing, China.
Yu H, Liu D, Yang J, Wu Z. | 12/1/2018 |
| The mutation frequencies of GJB2, SLC26A4, GJB3, and mitochondrial genes were 3.04%, 3.51%, 0.16%, and 0.88%, respectively among the Hakka population of Southern China | Analysis of mutation spectrum of common deafness-causing genes in Hakka newborns in southern China by semiconductor sequencing.
Zhao P, Lin L, Lan L., Free PMC Article | 10/6/2018 |
| GJB3 c.538C>T does not contribute to hearing loss, and this conclusion will assist with genetic counseling and risk prediction for deafness related to the GJB3 c.538C>T variant | The relationship between the GJB3 c.538C>T variant and hearing phenotype in the Chinese population.
Huang S, Huang B, Wang G, Kang DY, Zhang X, Meng X, Dai P. | 12/2/2017 |
| The results of the present study indicated that combined heterozygous mutations of the SLC264 and GJB3 genes may result in severe hearing loss. These results contribute to the understanding of clinical phenotype of deaf patients carrying combined mutations in the SLC26A4 and GJB3 genes. | Genotypes and phenotypes of a family with a deaf child carrying combined heterozygous mutations in SLC26A4 and GJB3 genes.
Li Y, Zhu B. | 04/8/2017 |
| study suggests that Connexin-31 mutant proteins are un/misfolded to cause erythrokeratodermia variabilis likely via an AP-1-mediated mechanism and identifies a small molecule with therapeutic potential of the disease | Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanism.
Tang C, Chen X, Chi J, Yang D, Liu S, Liu M, Pan Q, Fan J, Wang D, Zhang Z. | 08/6/2016 |
| identified dominant pathogenic missense mutation in the M4 transmembrane domain of GJB3; mutation led to the erythrokeratodermia variabilis (EKV) phenotype in the patient's family; results, combined with literature review, suggest dominant missense mutations outside the E2 domain in GJB3 are associated with EKV, and those within the E2 domain cause ADNSHL | The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis.
Sugiura K, Arima M, Matsunaga K, Akiyama M. | 06/11/2016 |
| Mutations in 12S rRNA, SLC26A4, GJB2 and GJB3 are highly associated with deafness. | [Analysis of common mutations of deafness-related genes in 2725 newborns].
Yu H, Liu D, Yang J, Wu Z, Sun D, Ma W. | 08/15/2015 |
| The CX31 V174M mutant may have an effect on the formation and function of the gap junction, in nonsyndromic hearing loss. | Mechanism of a novel missense mutation, p.V174M, of the human connexin31 (GJB3) in causing nonsyndromic hearing loss.
Li TC, Kuan YH, Ko TY, Li C, Yang JJ. | 04/11/2015 |
| In this study, we found no mutations of GJB3 in two Progressive symmetrical erythrokeratoderma families. | Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3 and connexin 31 genes.
Guo BR, Sun LD, Cui Y, Yang S, Zhang XJ. | 07/26/2014 |
| mutations prevalent in hearing loss patients | Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G, Chen D, Wang H, Li S, Zhang J, Feng Z, Guo L, Yang Z, Yang S, Sun C, Zhang X, Ma D. | 01/25/2014 |
| We report a missense mutation p.G45E in the GJB3 gene, which was responsible for Erythrokeratodermia variabilis in a Chinese family. | A missense mutation in the GJB3 gene responsible for erythrokeratodermia variabilis in a Chinese family.
Wang W, Liu LH, Chen G, Gao M, Zhu J, Zhou FS, Cheng H, Tang HY, Wu BY, Sun LD, Yang S, Wang PG, Zhang XJ. | 05/4/2013 |
| GJB3 and GJB6 genetic variants are associated with the pathogenicity of nonsyndromic sensorineural hearing loss. | Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.
Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK. | 03/9/2013 |
| Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis. | Mutation analysis of GJB3 and GJB4 in Chinese patients with erythrokeratodermia variabilis.
Liu H, Liu H, Fu XA, Yu YX, Zhou GZ, Lu XM, Tian HQ, Yu CP, Shi ZX, Yu ML, Zhang FR. | 07/28/2012 |
| Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death | Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death.
Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z., Free PMC Article | 07/28/2012 |
| A neonatal hearing screening program in Campania, Italy did not find any incidence of GJB6 or GJB3 mutations. | Mutational analysis for GJB2, GJB6, and GJB3 genes in Campania within a universal neonatal hearing screening programme.
Chinetti V, Iossa S, Auletta G, Corvino V, De Luca M, De Falco F, Giannini P, Lilli G, Malesci R, Riccardi P, Marciano E, Franzè A. | 03/17/2012 |
| GJB3 gene mutations were not the main cause of hereditary nonsyndromic hearing loss in Uighur and Han people. | [Study of mtDNA 12S rRNA A1555G, GJB2, GJB3 gene mutation in Uighur and Han people with hereditary nonsyndromic hearing loss in Xinjiang].
Li YH, Jiang H, Yang LJ, Xu HX, Li H, Li HW, Luo YH, Wang CW, Zou GH. | 10/29/2011 |