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    GJB1 gap junction protein beta 1 [ Homo sapiens (human) ]

    Gene ID: 2705, updated on 5-Mar-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.

    Connexin32 gap junction channels deliver miR155-3p to mediate pyroptosis in renal ischemia-reperfusion injury.
    Chen L, Fang H, Li X, Yu P, Guan Y, Xiao C, Deng Z, Hei Z, Chen C, Luo C., Free PMC Article

    02/20/2024
    Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.

    Role of connexin 32 in the directional differentiation of induced pluripotent stem cells into hepatocytes.
    Xu Y, Wang Y, Qi R, Li K, Wang X, Li X, Shi B., Free PMC Article

    02/16/2024
    A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.

    A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
    Li M, Yin M, Yang L, Chen Z, Du P, Sun L, Chen J., Free PMC Article

    03/17/2023
    Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.

    Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.
    Huang X, Wu X, Wu B, Mou J, Ma X., Free PMC Article

    11/26/2022
    GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.

    GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
    Yalcouyé A, Diallo SH, Cissé L, Karembé M, Diallo S, Coulibaly T, Diarra S, Coulibaly D, Keita M, Guinto CO, Fischbeck KH, Wonkam A, Landouré G, H3Africa Consortium., Free PMC Article

    09/3/2022
    Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.

    Connexin32 regulates expansion of liver cancer stem cells via the PI3K/Akt signaling pathway.
    Li H, Wang B, Qi B, Jiang G, Qin M, Yu M., Free PMC Article

    08/6/2022
    Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking.

    Cysteine residues in the C-terminal tail of connexin32 regulate its trafficking.
    Ray A, Mehta PP.

    04/9/2022
    Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke.

    Cx32 inhibits the autophagic effect of Nur77 in SH-SY5Y cells and rat brain with ischemic stroke.
    Ping F, Zhang C, Wang X, Wang Y, Zhou D, Hu J, Chen Y, Ling J, Zhou J., Free PMC Article

    02/5/2022
    Expression and Functionality of Connexin-Based Channels in Human Liver Cancer Cell Lines.

    Expression and Functionality of Connexin-Based Channels in Human Liver Cancer Cell Lines.
    Leroy K, Silva Costa CJ, Pieters A, Dos Santos Rodrigues B, Van Campenhout R, Cooreman A, Tabernilla A, Cogliati B, Vinken M., Free PMC Article

    01/22/2022
    Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma.

    Connexin32 activates necroptosis through Src-mediated inhibition of caspase 8 in hepatocellular carcinoma.
    Xiang YK, Peng FH, Guo YQ, Ge H, Cai SY, Fan LX, Peng YX, Wen H, Wang Q, Tao L., Free PMC Article

    09/18/2021
    Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.

    Connexin expression decreases during adipogenic differentiation of human adipose-derived mesenchymal stem cells.
    Mannino G, Vicario N, Parenti R, Giuffrida R, Lo Furno D.

    07/17/2021
    Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.

    Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
    Padilha JPD, Brasil CS, Hoefel AML, Winckler PB, Donis KC, Brusius-Facchin AC, Saute JAM.

    07/10/2021
    A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.

    A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
    Liu Y, Xue J, Li Z, Linpeng S, Tan H, Teng Y, Liang D, Wu L., Free PMC Article

    04/3/2021
    Connexin 32 induces pro-tumorigenic features in MCF10A normal breast cells and MDA-MB-231 metastatic breast cancer cells.

    Connexin 32 induces pro-tumorigenic features in MCF10A normal breast cells and MDA-MB-231 metastatic breast cancer cells.
    Adak A, Unal YC, Yucel S, Vural Z, Turan FB, Yalcin-Ozuysal O, Ozcivici E, Mese G.

    01/9/2021
    Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.

    Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
    Chen B, Niu S, Wang X, Yu X, Tang H, Pan H, Zhang Z.

    11/21/2020
    Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.

    Crosstalk Between Connexin32 and Mitochondrial Apoptotic Signaling Pathway Plays a Pivotal Role in Renal Ischemia Reperfusion-Induced Acute Kidney Injury.
    Chen C, Yao W, Wu S, Zhou S, Ge M, Gu Y, Li X, Chen G, Bellanti JA, Zheng SG, Yuan D, Hei Z., Free PMC Article

    08/22/2020
    The Roles of Connexin 26, 32, and 43 as Prognostic Factors for Gastric Cancer.

    The Roles of Connexin 26, 32, and 43 as Prognostic Factors for Gastric Cancer.
    Kim EY, Jun KH, Yim K.

    08/13/2020
    The unique feature of this report is the identification of two novel mutations: c.563 C > T and sc.103G > C of the GJB1 gene detected in two families

    Recurrent episodes of reversible posterior leukoencephalopathy in three Chinese families with GJB1 mutations in X-linked Charcot-Marie-tooth type 1 disease: cases report.
    Liang Y, Liu J, Cheng D, Wu Y, Mo L, Huang W., Free PMC Article

    03/21/2020
    Our studies have defined distinct roles of these motifs in regulating the endocytosis of Cx32 and its gap junction-forming ability

    Dileucine-like motifs in the C-terminal tail of connexin32 control its endocytosis and assembly into gap junctions.
    Ray A, Katoch P, Jain N, Mehta PP., Free PMC Article

    09/14/2019
    Cx32 expression may induce cisplatin resistance by modulating drug efflux transporter expression and activating the EGFRprotein kinase B signalling pathway in ovarian cancer cells.

    Cx32 mediates cisplatin resistance in human ovarian cancer cells by affecting drug efflux transporter expression and activating the EGFR‑Akt pathway.
    Zhang Y, Tao L, Fan LX, Huang K, Luo HM, Ge H, Wang X, Wang Q.

    05/25/2019
    EphB1 and EphA1 phosphorylate the Cx32CT domain residue Tyr(243) Unlike for Cx43, the tyrosine phosphorylation of the Cx32CT increased gap junction intercellular communication.

    Regulation of Connexin32 by ephrin receptors and T-cell protein-tyrosine phosphatase.
    Trease AJ, Li H, Spagnol G, Zheng L, Stauch KL, Sorgen PL., Free PMC Article

    04/13/2019
    This study showed that an An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1.

    An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
    Chen DH, Ma M, Scavina M, Blue E, Wolff J, Karna P, Dorschner MO, Raskind WH, Bird TD., Free PMC Article

    03/30/2019
    Findings support the hypothesis that paracrine signalling alteration due to Cx32 hemichannel dysfunction underlies CMTX1 pathogenesis.

    Cx32 hemichannel opening by cytosolic Ca2+ is inhibited by the R220X mutation that causes Charcot-Marie-Tooth disease.
    Carrer A, Leparulo A, Crispino G, Ciubotaru CD, Marin O, Zonta F, Bortolozzi M.

    01/5/2019
    These "periferal nervous system-only" mutations form gap junction plaques and produce levels of junctional coupling similar to those for wild-type Cx32. In contrast, mutants with central nervous system manifestations either form no morphological gap junction plaques or, if they do, produce little or no detectable junctional coupling.

    Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
    Abrams CK, Goman M, Wong S, Scherer SS, Kleopa KA, Peinado A, Freidin MM., Free PMC Article

    10/20/2018
    Results show that the GJB1 (connexin 32; Cx32) mutants R75P, R75Q and R75W display variable structural conformation and dynamic behavior compared to the native protein.

    Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
    Agrahari AK, Kumar A, R S, Zayed H, C GPD.

    07/7/2018
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