Gjb2

Summary

Gene Symbol: Gjb2
Description: gap junction protein, beta 2
Alias: AI325222, Cnx26, Cx26, Gjb-2, gap junction beta-2 protein, connexin-26, gap junction membrane channel protein beta 2
Species: mouse
Products:     Gjb2

Top Publications

  1. Ahmad S, Chen S, Sun J, Lin X. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun. 2003;307:362-8 pubmed
    ..Two of these connexins (Cx26 and Cx30), both belonging to the beta-group, were investigated for their molecular assemblies in the cochlea...
  2. Monaghan P, Moss D. Connexin expression and gap junctions in the mammary gland. Cell Biol Int. 1996;20:121-5 pubmed
    ..Analysis of connexin expression at the molecular level is now bringing new insights into the structure and function of gap junctions in a range of normal and pathological cell systems. ..
  3. Cohen Salmon M, Ott T, Michel V, Hardelin J, Perfettini I, Eybalin M, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol. 2002;12:1106-11 pubmed
    Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated deafness, DFNB1, which accounts for half of the cases of prelingual profound hereditary deafness in Caucasian ..
  4. Crispino G, Di Pasquale G, Scimemi P, Rodriguez L, Galindo Ramirez F, De Siati R, et al. BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice. PLoS ONE. 2011;6:e23279 pubmed publisher
    ..the expression and function of connexin26 and connexin30 from postnatal day 5 to adult age in double transgenic Cx26(Sox10Cre) mice, which we obtained by crossing connexin26 floxed mice with a deleter Sox10-Cre line...
  5. Kelsell D, Dunlop J, Stevens H, Lench N, Liang J, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997;387:80-3 pubmed
    ..of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family...
  6. Zhang Y, Tang W, Ahmad S, Sipp J, Chen P, Lin X. Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci U S A. 2005;102:15201-6 pubmed
    Dysfunction of gap junctions (GJs) caused by mutations in connexin26 (Cx26) and Cx30 accounts for nearly half of all cases of hereditary nonsyndromic deafness cases...
  7. Butterweck A, Elfgang C, Willecke K, Traub O. Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin. Eur J Cell Biol. 1994;65:152-63 pubmed
    ..In the epidermis of adult mice Cx43 and -31 were located similarly as in embryonic tissue, but Cx45 as well as Cx26 were not detected and in addition Cx40 was weakly expressed in the stratum basale...
  8. Bry C, Maass K, Miyoshi K, Willecke K, Ott T, Robinson G, et al. Loss of connexin 26 in mammary epithelium during early but not during late pregnancy results in unscheduled apoptosis and impaired development. Dev Biol. 2004;267:418-29 pubmed
    ..Gap junctions are intercellular channels that are formed by the protein family of connexins (Cxs). In mammary tissue, Cx26 and Cx32 are present in the secretory epithelium and Cx43 is localized in the myoepithelium...
  9. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  10. Davis N, Phillips A, Becker D. Connexin dynamics in the privileged wound healing of the buccal mucosa. Wound Repair Regen. 2013;21:571-8 pubmed publisher
    ..This rapid down-regulation of all three connexins may in part underlie the rapid healing of the buccal mucosa. ..

Detail Information

Publications94

  1. Ahmad S, Chen S, Sun J, Lin X. Connexins 26 and 30 are co-assembled to form gap junctions in the cochlea of mice. Biochem Biophys Res Commun. 2003;307:362-8 pubmed
    ..Two of these connexins (Cx26 and Cx30), both belonging to the beta-group, were investigated for their molecular assemblies in the cochlea...
  2. Monaghan P, Moss D. Connexin expression and gap junctions in the mammary gland. Cell Biol Int. 1996;20:121-5 pubmed
    ..Analysis of connexin expression at the molecular level is now bringing new insights into the structure and function of gap junctions in a range of normal and pathological cell systems. ..
  3. Cohen Salmon M, Ott T, Michel V, Hardelin J, Perfettini I, Eybalin M, et al. Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death. Curr Biol. 2002;12:1106-11 pubmed
    Mutations in the gene encoding the gap junction protein connexin26 (Cx26) are responsible for the autosomal recessive isolated deafness, DFNB1, which accounts for half of the cases of prelingual profound hereditary deafness in Caucasian ..
  4. Crispino G, Di Pasquale G, Scimemi P, Rodriguez L, Galindo Ramirez F, De Siati R, et al. BAAV mediated GJB2 gene transfer restores gap junction coupling in cochlear organotypic cultures from deaf Cx26Sox10Cre mice. PLoS ONE. 2011;6:e23279 pubmed publisher
    ..the expression and function of connexin26 and connexin30 from postnatal day 5 to adult age in double transgenic Cx26(Sox10Cre) mice, which we obtained by crossing connexin26 floxed mice with a deleter Sox10-Cre line...
  5. Kelsell D, Dunlop J, Stevens H, Lench N, Liang J, Parry G, et al. Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997;387:80-3 pubmed
    ..of autosomal dominant deafness and have identified a mutation in the gene encoding the gap-junction protein connexin 26 (Cx26) that segregates with the profound deafness in the family...
  6. Zhang Y, Tang W, Ahmad S, Sipp J, Chen P, Lin X. Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci U S A. 2005;102:15201-6 pubmed
    Dysfunction of gap junctions (GJs) caused by mutations in connexin26 (Cx26) and Cx30 accounts for nearly half of all cases of hereditary nonsyndromic deafness cases...
  7. Butterweck A, Elfgang C, Willecke K, Traub O. Differential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin. Eur J Cell Biol. 1994;65:152-63 pubmed
    ..In the epidermis of adult mice Cx43 and -31 were located similarly as in embryonic tissue, but Cx45 as well as Cx26 were not detected and in addition Cx40 was weakly expressed in the stratum basale...
  8. Bry C, Maass K, Miyoshi K, Willecke K, Ott T, Robinson G, et al. Loss of connexin 26 in mammary epithelium during early but not during late pregnancy results in unscheduled apoptosis and impaired development. Dev Biol. 2004;267:418-29 pubmed
    ..Gap junctions are intercellular channels that are formed by the protein family of connexins (Cxs). In mammary tissue, Cx26 and Cx32 are present in the secretory epithelium and Cx43 is localized in the myoepithelium...
  9. Mese G, Sellitto C, Li L, Wang H, Valiunas V, Richard G, et al. The Cx26-G45E mutation displays increased hemichannel activity in a mouse model of the lethal form of keratitis-ichthyosis-deafness syndrome. Mol Biol Cell. 2011;22:4776-86 pubmed publisher
    Mutations in the GJB2 gene (Cx26) cause deafness in humans. Most are loss-of-function mutations and cause nonsyndromic deafness...
  10. Davis N, Phillips A, Becker D. Connexin dynamics in the privileged wound healing of the buccal mucosa. Wound Repair Regen. 2013;21:571-8 pubmed publisher
    ..This rapid down-regulation of all three connexins may in part underlie the rapid healing of the buccal mucosa. ..
  11. Gabriel H, Jung D, Bützler C, Temme A, Traub O, Winterhager E, et al. Transplacental uptake of glucose is decreased in embryonic lethal connexin26-deficient mice. J Cell Biol. 1998;140:1453-61 pubmed
  12. Anselmi F, Hernandez V, Crispino G, Seydel A, Ortolano S, Roper S, et al. ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear. Proc Natl Acad Sci U S A. 2008;105:18770-5 pubmed publisher
    ..By contrast, Ca(2+) responses failed to propagate in cultures with defective expression of connexin 26 (Cx26) or Cx30...
  13. Minekawa A, Abe T, Inoshita A, Iizuka T, Kakehata S, Narui Y, et al. Cochlear outer hair cells in a dominant-negative connexin26 mutant mouse preserve non-linear capacitance in spite of impaired distortion product otoacoustic emission. Neuroscience. 2009;164:1312-9 pubmed publisher
    Mutations in the connexin26 gene (GJB2) are the most common genetic cause of congenital bilateral non-syndromic sensorineural hearing loss...
  14. Schütz M, Auth T, Gehrt A, Bosen F, Körber I, Strenzke N, et al. The connexin26 S17F mouse mutant represents a model for the human hereditary keratitis-ichthyosis-deafness syndrome. Hum Mol Genet. 2011;20:28-39 pubmed publisher
    Mutations in the GJB2 gene coding for connexin26 (Cx26) can cause a variety of deafness and hereditary hyperproliferative skin disorders in humans...
  15. Dicke N, Pielensticker N, Degen J, Hecker J, Tress O, Bald T, et al. Peripheral lymphangiogenesis in mice depends on ectodermal connexin-26 (Gjb2). J Cell Sci. 2011;124:2806-15 pubmed publisher
    In order to study the specific function of connexin-26 (Cx26, also known as gap junction beta-2 protein; Gjb2), we generated knockin mice that expressed either a floxed lacZ reporter or, after Cre-mediated deletion, connexin-32 (Cx32)-..
  16. Locke D, Stein T, Davies C, Morris J, Harris A, Evans W, et al. Altered permeability and modulatory character of connexin channels during mammary gland development. Exp Cell Res. 2004;298:643-60 pubmed
    ..Microarray study shows that the principal connexin isoform in epithelial cells during pregnancy is Cx26, up-regulated and persisting from the virgin. After parturition, there is rapid induction of Cx32...
  17. Forge A, Becker D, Casalotti S, Edwards J, Marziano N, Nevill G. Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals. J Comp Neurol. 2003;467:207-31 pubmed
    ..in the mammalian inner ear by RT-PCR, Western blotting, and immunohistochemistry revealed four connexin isotypes, cx26, cx30, cx31, and cx43, in the cochlea and three, cx26, cx30, and cx43, in the vestibular organs...
  18. Liang C, Zhu Y, Zong L, Lu G, Zhao H. Cell degeneration is not a primary causer for Connexin26 (GJB2) deficiency associated hearing loss. Neurosci Lett. 2012;528:36-41 pubmed publisher
    Connexin26 (Cx26, GJB2) mutations can induce congenital deafness and are responsible for ?50% of nonsyndromic hearing loss in children...
  19. White T, Paul D. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol. 1999;61:283-310 pubmed
    ..In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity. ..
  20. Simon A, Goodenough D. Diverse functions of vertebrate gap junctions. Trends Cell Biol. 1998;8:477-83 pubmed
  21. Sun Y, Tang W, Chang Q, Wang Y, Kong W, Lin X. Connexin30 null and conditional connexin26 null mice display distinct pattern and time course of cellular degeneration in the cochlea. J Comp Neurol. 2009;516:569-79 pubmed publisher
    Mutations in connexin26 (Cx26) and Cx30 are the most common cause of nonsyndromic inherited deafness in humans...
  22. Wang Y, Chang Q, Tang W, Sun Y, Zhou B, Li H, et al. Targeted connexin26 ablation arrests postnatal development of the organ of Corti. Biochem Biophys Res Commun. 2009;385:33-7 pubmed publisher
    Mutations in the gene coding for connexin26 (Cx26) is the most common cause of human nonsyndromic hereditary deafness...
  23. Hennemann H, Kozjek G, Dahl E, Nicholson B, Willecke K. Molecular cloning of mouse connexins26 and -32: similar genomic organization but distinct promoter sequences of two gap junction genes. Eur J Cell Biol. 1992;58:81-9 pubmed
    ..The first exon of each gene is preceded by a TATA-less promoter region. The promoter of the mouse Cx26 gene has at least two transcription start sites and is located in a very GC-rich region which is reminiscent of ..
  24. Inoshita A, Iizuka T, Okamura H, Minekawa A, Kojima K, Furukawa M, et al. Postnatal development of the organ of Corti in dominant-negative Gjb2 transgenic mice. Neuroscience. 2008;156:1039-47 pubmed publisher
    ..50%) of congenital bilateral nonsyndromic sensorineural deafness cases have been linked to mutations in the GJB2 coding for the connexin26...
  25. Ortolano S, Di Pasquale G, Crispino G, Anselmi F, Mammano F, Chiorini J. Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear. Proc Natl Acad Sci U S A. 2008;105:18776-81 pubmed publisher
    b>Connexin 26 (Cx26) and connexin 30 (Cx30) are encoded by two genes (GJB2 and GJB6, respectively) that are found within 50 kb in the same complex deafness locus, DFNB1...
  26. Grummer R, Reuss B, Winterhager E. Expression pattern of different gap junction connexins is related to embryo implantation. Int J Dev Biol. 1996;40:361-7 pubmed
    ..b>cx26 is locally expressed in the uterine epithelium of the implantation chamber, cx43 in the surrounding decidua prior ..
  27. Zheng Fischhöfer Q, Kibschull M, Schnichels M, Kretz M, Petrasch Parwez E, Strotmann J, et al. Characterization of connexin31.1-deficient mice reveals impaired placental development. Dev Biol. 2007;312:258-71 pubmed
    ..We conclude that Connexin31.1 is critical for normal placental development but appears to be functionally compensated by other connexin isoforms in the embryo proper and adult mouse. ..
  28. Dupressoir A, Vernochet C, Bawa O, Harper F, Pierron G, Opolon P, et al. Syncytin-A knockout mice demonstrate the critical role in placentation of a fusogenic, endogenous retrovirus-derived, envelope gene. Proc Natl Acad Sci U S A. 2009;106:12127-32 pubmed publisher
  29. Mutai H, Nagashima R, Sugitani Y, Noda T, Fujii M, Matsunaga T. Expression of Pou3f3/Brn-1 and its genomic methylation in developing auditory epithelium. Dev Neurobiol. 2009;69:913-30 pubmed publisher
    ..This is the first report to study involvement of an epigenetic regulatory mechanism in the developing mammalian auditory epithelium. ..
  30. Kibschull M, Magin T, Traub O, Winterhager E. Cx31 and Cx43 double-deficient mice reveal independent functions in murine placental and skin development. Dev Dyn. 2005;233:853-63 pubmed
    ..Therefore, in epidermal and preimplantation development, gap junctional communication can probably be compensated by other isoforms coexpressed with Cx31 and Cx43. ..
  31. Iizuka T, Kamiya K, Gotoh S, Sugitani Y, Suzuki M, Noda T, et al. Perinatal Gjb2 gene transfer rescues hearing in a mouse model of hereditary deafness. Hum Mol Genet. 2015;24:3651-61 pubmed publisher
    ..caused by recessive mutations in the gene gap junction protein, beta 2, 26 kDa (GJB2), which is also known as connexin 26 (Cx26). Despite this knowledge, existing treatment strategies do not completely recover speech perception...
  32. Dahl E, Winterhager E, Reuss B, Traub O, Butterweck A, Willecke K. Expression of the gap junction proteins connexin31 and connexin43 correlates with communication compartments in extraembryonic tissues and in the gastrulating mouse embryo, respectively. J Cell Sci. 1996;109 ( Pt 1):191-7 pubmed
    ..The communication boundary between those compartments may be due to incompatibility of connexin31 and connexin43 hemichannels, which do not communicate with each other in cell culture. ..
  33. Joswig A, Gabriel H, Kibschull M, Winterhager E. Apoptosis in uterine epithelium and decidua in response to implantation: evidence for two different pathways. Reprod Biol Endocrinol. 2003;1:44 pubmed
  34. Coghill E, Hugill A, Parkinson N, Davison C, Glenister P, Clements S, et al. A gene-driven approach to the identification of ENU mutants in the mouse. Nat Genet. 2002;30:255-6 pubmed
    ..We provide support for this approach and report the identification of mutations in the gene (Gjb2) encoding connexin 26, using archives established from the UK ENU mutagenesis program.
  35. Lynn B, Tress O, May D, Willecke K, Nagy J. Ablation of connexin30 in transgenic mice alters expression patterns of connexin26 and connexin32 in glial cells and leptomeninges. Eur J Neurosci. 2011;34:1783-93 pubmed publisher
    Expression of connexin26 (Cx26), Cx30 and Cx43 in astrocytes and expression of Cx29, Cx32 and Cx47 in oligodendrocytes of adult rodent brain has been well documented, as has the interdependence of connexin expression patterns of ..
  36. Yamasaki H, Krutovskikh V, Mesnil M, Tanaka T, Zaidan Dagli M, Omori Y. Role of connexin (gap junction) genes in cell growth control and carcinogenesis. C R Acad Sci III. 1999;322:151-9 pubmed
    ..We have produced various dominant-negative mutants of Cx26, Cx32 and Cx43 and showed that some of them prevent the growth control exerted by the corresponding wild-type genes...
  37. Trowe M, Maier H, Petry M, Schweizer M, Schuster Gossler K, Kispert A. Impaired stria vascularis integrity upon loss of E-cadherin in basal cells. Dev Biol. 2011;359:95-107 pubmed publisher
  38. Locke D. Gap junctions in normal and neoplastic mammary gland. J Pathol. 1998;186:343-9 pubmed
  39. Charollais A, Serre V, Mock C, Cogne F, Bosco D, Meda P. Loss of alpha 1 connexin does not alter the prenatal differentiation of pancreatic beta cells and leads to the identification of another islet cell connexin. Dev Genet. 1999;24:13-26 pubmed
    ..They further provide evidence that normal and tumoral insulin-producing cells natively coexpress connexins alpha 1 and alpha 6. ..
  40. Kamata T, Subleski M, Hara Y, Yuhki N, Kung H, Copeland N, et al. Isolation and characterization of a bovine neural specific protein (CRMP-2) cDNA homologous to unc-33, a C. elegans gene implicated in axonal outgrowth and guidance. Brain Res Mol Brain Res. 1998;54:219-36 pubmed
    ..Taken together, these data suggest multi-functional roles for CRMP-2 in developing and adult nervous systems, and the biological activity of CRMP-2 could be regulated by phosphorylation reaction. ..
  41. Rash J, Olson C, Davidson K, Yasumura T, Kamasawa N, Nagy J. Identification of connexin36 in gap junctions between neurons in rodent locus coeruleus. Neuroscience. 2007;147:938-56 pubmed
    ..these neurons are linked by extraordinarily abundant gap junctions consisting of connexin32 (Cx32) and connexin26 (Cx26), and that those same connexins abundantly link neurons to astrocytes...
  42. Zong L, Chen J, Zhu Y, Zhao H. Progressive age-dependence and frequency difference in the effect of gap junctions on active cochlear amplification and hearing. Biochem Biophys Res Commun. 2017;489:223-227 pubmed publisher
    Mutations of Connexin 26 (Cx26, GJB2), which is a predominant gap junction isoform in the cochlea, can induce high incidence of nonsyndromic hearing loss...
  43. Takada Y, Beyer L, Swiderski D, O Neal A, Prieskorn D, Shivatzki S, et al. Connexin 26 null mice exhibit spiral ganglion degeneration that can be blocked by BDNF gene therapy. Hear Res. 2014;309:124-35 pubmed publisher
    Mutations in the connexin 26 gene (GJB2) are the most common genetic cause of deafness, leading to congenital bilateral non-syndromic sensorineural hearing loss...
  44. Kim H, Wangemann P. Epithelial cell stretching and luminal acidification lead to a retarded development of stria vascularis and deafness in mice lacking pendrin. PLoS ONE. 2011;6:e17949 pubmed publisher
  45. Yang J, Qin G, Luo M, Chen J, Zhang Q, Li L, et al. Reciprocal positive regulation between Cx26 and PI3K/Akt pathway confers acquired gefitinib resistance in NSCLC cells via GJIC-independent induction of EMT. Cell Death Dis. 2015;6:e1829 pubmed publisher
    ..The molecular mechanisms of gefitinib resistance remain still unclear. In this study, we first found that connexin 26 (Cx26) is the predominant Cx isoform expressed in various NSCLC cell lines...
  46. Kibschull M, Colaco K, Matysiak Zablocki E, Winterhager E, Lye S. Connexin31.1 (Gjb5) deficiency blocks trophoblast stem cell differentiation and delays placental development. Stem Cells Dev. 2014;23:2649-60 pubmed publisher
    ..1 and Cx31 that act in opposition to balance the fate of trophoblast cells during differentiation, with Cx31.1 promoting, and Cx31 delaying terminal differentiation. ..
  47. Stutenkemper R, Geisse S, Schwarz H, Look J, Traub O, Nicholson B, et al. The hepatocyte-specific phenotype of murine liver cells correlates with high expression of connexin32 and connexin26 but very low expression of connexin43. Exp Cell Res. 1992;201:43-54 pubmed
    ..Furthermore several dedifferentiated cell lines derived from rat or mouse liver and cultivated in serum-containing medium were found to express little connexin32 or connexin26 mRNA but relatively high levels of connexin43 mRNA. ..
  48. Decrock E, Vinken M, De Vuyst E, Krysko D, D Herde K, Vanhaecke T, et al. Connexin-related signaling in cell death: to live or let die?. Cell Death Differ. 2009;16:524-36 pubmed publisher
    ..We also briefly focus on pannexins, a novel set of connexin-like proteins that have been implicated in cellular responses to pathological insults. ..
  49. Nagashima R, Yamaguchi T, Tanaka H, Ogita K. Mechanism underlying the protective effect of tempol and N?-nitro-L-arginine methyl ester on acoustic injury: possible involvement of c-Jun N-terminal kinase pathway and connexin26 in the cochlear spiral ligament. J Pharmacol Sci. 2010;114:50-62 pubmed
    ..Taken together, our data suggest that noise-induced hearing loss is due at least in part to ROS / nitric oxide-mediated activation of the JNK pathway and down-regulation of connexin26 in the SL of mice. ..
  50. Johnson S, Ceriani F, Houston O, Polishchuk R, Polishchuk E, Crispino G, et al. Connexin-Mediated Signaling in Nonsensory Cells Is Crucial for the Development of Sensory Inner Hair Cells in the Mouse Cochlea. J Neurosci. 2017;37:258-268 pubmed publisher
    Mutations in the genes encoding for gap junction proteins connexin 26 (Cx26) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans...
  51. Valiente M, Ciceri G, Rico B, Mar n O. Focal adhesion kinase modulates radial glia-dependent neuronal migration through connexin-26. J Neurosci. 2011;31:11678-91 pubmed publisher
    ..These results indicate that FAK plays a fundamental role in the dynamic regulation of Gap-mediated adhesions during glial-guided neuronal migration in the mouse...
  52. Braunstein E, Crenshaw E, Morrow B, Adams J. Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation. J Assoc Res Otolaryngol. 2008;9:33-43 pubmed publisher
  53. Mignon C, Fromaget C, Mattei M, Gros D, Yamasaki H, Mesnil M. Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization. Cytogenet Cell Genet. 1996;72:185-6 pubmed
  54. García I, Bosen F, Mujica P, Pupo A, Flores Muñoz C, Jara O, et al. From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome. J Invest Dermatol. 2016;136:574-83 pubmed publisher
    ..KID has been linked to heterozygous dominant missense mutations in the GJB2 and GJB6 genes, encoding connexin26 and 30, respectively...
  55. Chen J, Chen J, Zhu Y, Liang C, Zhao H. Deafness induced by Connexin 26 (GJB2) deficiency is not determined by endocochlear potential (EP) reduction but is associated with cochlear developmental disorders. Biochem Biophys Res Commun. 2014;448:28-32 pubmed publisher
    b>Connexin 26 (Cx26, GJB2) mutations are the major cause of hereditary deafness and are responsible for >50% of nonsyndromic hearing loss...
  56. Ratchford A, Esguerra C, Moley K. Decreased oocyte-granulosa cell gap junction communication and connexin expression in a type 1 diabetic mouse model. Mol Endocrinol. 2008;22:2643-54 pubmed publisher
    ..Real-time RT-PCR analyses confirmed the presence of Cx26, Cx37, and Cx57 mRNA and revealed a significant decrease in Cx37 mRNA expression in oocytes from diabetic mice ..
  57. Terrinoni A, Serra V, Bruno E, Strasser A, Valente E, Flores E, et al. Role of p63 and the Notch pathway in cochlea development and sensorineural deafness. Proc Natl Acad Sci U S A. 2013;110:7300-5 pubmed publisher
  58. Dupressoir A, Vernochet C, Harper F, Guégan J, Dessen P, Pierron G, et al. A pair of co-opted retroviral envelope syncytin genes is required for formation of the two-layered murine placental syncytiotrophoblast. Proc Natl Acad Sci U S A. 2011;108:E1164-73 pubmed publisher
    ..Although some are absolutely required for completion of pregnancy, others are still amenable to "epigenetic" compensations, thus illustrating the complexity of the molecular machinery that developed during placental evolution. ..
  59. Nishi M, Kumar N, Gilula N. Developmental regulation of gap junction gene expression during mouse embryonic development. Dev Biol. 1991;146:117-30 pubmed
    ..4) In an ES cell culture line, alpha 1 was the only gap junction gene product detected. This is consistent with the findings of alpha 1 expression in the embryonic inner cell mass region and in undifferentiated teratocarcinoma cells. ..
  60. Nagy J, Lynn B, Tress O, Willecke K, Rash J. Connexin26 expression in brain parenchymal cells demonstrated by targeted connexin ablation in transgenic mice. Eur J Neurosci. 2011;34:263-71 pubmed publisher
    ..Cx30) and connexin43 (Cx43), but it has remained controversial whether these cells also express connexin26 (Cx26). To investigate this issue further, we examined immunofluorescence labelling of glial connexins in wild-type vs...
  61. Clotman F, Jacquemin P, Plumb Rudewiez N, Pierreux C, Van Der Smissen P, Dietz H, et al. Control of liver cell fate decision by a gradient of TGF beta signaling modulated by Onecut transcription factors. Genes Dev. 2005;19:1849-54 pubmed
    ..Thus, a gradient of activin/TGFbeta signaling modulated by Onecut factors is required to segregate the hepatocytic and the biliary lineages. ..
  62. Ayad W, Locke D, Koreen I, Harris A. Heteromeric, but not homomeric, connexin channels are selectively permeable to inositol phosphates. J Biol Chem. 2006;281:16727-39 pubmed
    Previous work has shown that channels formed by both connexin (Cx)26 and Cx32 (heteromeric Cx26/Cx32 hemichannels) are selectively permeable to cAMP and cGMP...
  63. Ott T, Jokwitz M, Lenhard D, Romualdi A, Dombrowski F, Ittrich C, et al. Ablation of gap junctional communication in hepatocytes of transgenic mice does not lead to disrupted cellular homeostasis or increased spontaneous tumourigenesis. Eur J Cell Biol. 2006;85:717-28 pubmed
    Gap junctions between murine hepatocytes are composed of two subunit proteins, connexin26 (Cx26) and connexin32 (Cx32)...
  64. Leff S, Brannan C, Reed M, Ozcelik T, Francke U, Copeland N, et al. Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet. 1992;2:259-64 pubmed
  65. Qu Y, Tang W, Dahlke I, Ding D, Salvi R, Sohl G, et al. Analysis of connexin subunits required for the survival of vestibular hair cells. J Comp Neurol. 2007;504:499-507 pubmed
    ..The most commonly found human Cx mutations are either Cx26 or Cx30 deletions...
  66. Fukunaga I, Fujimoto A, Hatakeyama K, Aoki T, Nishikawa A, Noda T, et al. In Vitro Models of GJB2-Related Hearing Loss Recapitulate Ca2+ Transients via a Gap Junction Characteristic of Developing Cochlea. Stem Cell Reports. 2016;7:1023-1036 pubmed publisher
    Mutation of the Gap Junction Beta 2 gene (GJB2) encoding connexin 26 (CX26) is the most frequent cause of hereditary deafness worldwide and accounts for up to 50% of non-syndromic sensorineural hearing loss cases in some populations...
  67. Chan D, Rouse S. Sound-Induced Intracellular Ca2+ Dynamics in the Adult Hearing Cochlea. PLoS ONE. 2016;11:e0167850 pubmed publisher
    ..Disruption of ICS activity is thought to underlie Connexin 26-associated hearing loss, the most common genetic form of deafness, and downstream sequelae of ICS wave activity,..
  68. Hsieh Y, Zou J, Jin J, Yang H, Chen Y, Jiang C, et al. Monitoring channel activities of proteoliposomes with SecA and Cx26 gap junction in single oocytes. Anal Biochem. 2015;480:58-66 pubmed publisher
    ..In addition, inserting reconstituted gap junction Cx26 liposomes into the oocytes allowed the demonstration of intracellular/extracellular Ca(2+)-regulated hemi-channel ..
  69. Moskovitz J, Jenkins N, Gilbert D, Copeland N, Jursky F, Weissbach H, et al. Chromosomal localization of the mammalian peptide-methionine sulfoxide reductase gene and its differential expression in various tissues. Proc Natl Acad Sci U S A. 1996;93:3205-8 pubmed
    ..In addition, blood and alveolar macrophages showed high expression of the enzyme. The msrA gene was mapped to the central region of mouse chromosome 14, in a region of homology with human chromosomes 13 and 8p21. ..
  70. Stewart M, Plante I, Bechberger J, Naus C, Laird D. Mammary gland specific knockdown of the physiological surge in Cx26 during lactation retains normal mammary gland development and function. PLoS ONE. 2014;9:e101546 pubmed publisher
    Connexin26 (Cx26) is the major Cx protein expressed in the human mammary gland and is up-regulated during pregnancy while remaining elevated throughout lactation...
  71. Shibata S, Miwa T, Wu H, Levitt P, Ohyama T. Hepatocyte Growth Factor-c-MET Signaling Mediates the Development of Nonsensory Structures of the Mammalian Cochlea and Hearing. J Neurosci. 2016;36:8200-9 pubmed publisher
    ..Our findings reveal an additional example of context-dependent c-MET signaling diversity, required here for proper cellular invasion developmentally that is essential for specific aspects of auditory-related organogenesis. ..
  72. Wang Y, Lin C, He Y, Li A, Ni W, Sun S, et al. Mir-27a promotes apoptosis of cochlear sensory epithelium in Cx26 knockout mice. Front Biosci (Landmark Ed). 2016;21:364-73 pubmed
    To investigate the underlying molecular mechanism for connexin 26 (Cx26) knockout-induced apoptosis, we performed TUNEL assays to detect apoptosis in the cochlear sensory epithelium in Cx26 knockout mice...
  73. Press E, Alaga K, Barr K, Shao Q, Bosen F, Willecke K, et al. Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. Cell Death Dis. 2017;8:e2845 pubmed publisher
    ..Here we generated a novel, viable, and fertile mouse (Cx26CK14-S17F/+) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 ..
  74. Pauken C, Lo C. Nonoverlapping expression of Cx43 and Cx26 in the mouse placenta and decidua: a pattern of gap junction gene expression differing from that in the rat. Mol Reprod Dev. 1995;41:195-203 pubmed
    We characterized the expression of two gap junction genes (Cx26 and Cx43) in the mouse decidua and placenta. In the decidua, in situ hybridization analysis and immunostaining studies revealed a high level of Cx43 expression...
  75. Mei L, Chen J, Zong L, Zhu Y, Liang C, Jones R, et al. A deafness mechanism of digenic Cx26 (GJB2) and Cx30 (GJB6) mutations: Reduction of endocochlear potential by impairment of heterogeneous gap junctional function in the cochlear lateral wall. Neurobiol Dis. 2017;108:195-203 pubmed publisher
    Digenic Connexin26 (Cx26, GJB2) and Cx30 (GJB6) heterozygous mutations are the second most frequent cause of recessive deafness in humans. However, the underlying deafness mechanism remains unclear...
  76. Trowe M, Maier H, Schweizer M, Kispert A. Deafness in mice lacking the T-box transcription factor Tbx18 in otic fibrocytes. Development. 2008;135:1725-34 pubmed publisher
  77. Chen S, Sun Y, Lin X, Kong W. Down regulated connexin26 at different postnatal stage displayed different types of cellular degeneration and formation of organ of Corti. Biochem Biophys Res Commun. 2014;445:71-7 pubmed publisher
    Connexin26 (Cx26) mutation is the most common cause for non-syndromic hereditary deafness. Different congenital Cx26 null mouse models revealed a profound hearing loss pattern and developmental defect in the cochlea...
  78. Sohl G, Eiberger J, Jung Y, Kozak C, Willecke K. The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development. Biol Chem. 2001;382:973-8 pubmed
    ..Our expression data suggest that the new connexin gene is active in myelin-forming glial cells. ..
  79. Rukstalis J, Kowalik A, Zhu L, Lidington D, Pin C, Konieczny S. Exocrine specific expression of Connexin32 is dependent on the basic helix-loop-helix transcription factor Mist1. J Cell Sci. 2003;116:3315-25 pubmed
    ..In pancreatic acini, the connexin26 (Cx26) and connexin32 (Cx32) proteins form functional channels that coordinate the secretion of digestive enzymes...
  80. Esen N, Shuffield D, Syed M, Kielian T. Modulation of connexin expression and gap junction communication in astrocytes by the gram-positive bacterium S. aureus. Glia. 2007;55:104-17 pubmed
    ..Here we investigated the effects of S. aureus and its cell wall product peptidoglycan (PGN) on Cx43, Cx30, and Cx26 expression, the main Cx isoforms found in astrocytes...
  81. Frenz C, Van De Water T. Immunolocalization of connexin 26 in the developing mouse cochlea. Brain Res Brain Res Rev. 2000;32:172-80 pubmed
    ..In this study, we demonstrate the temporal-spatial distribution of connexin 26 in the embryonic and early postnatal mouse cochlea...
  82. Sohl G, Willecke K. An update on connexin genes and their nomenclature in mouse and man. Cell Commun Adhes. 2003;10:173-80 pubmed
    ..Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes. ..
  83. Filippov M, Hormuzdi S, Fuchs E, Monyer H. A reporter allele for investigating connexin 26 gene expression in the mouse brain. Eur J Neurosci. 2003;18:3183-92 pubmed
    ..In order to define the cellular distribution of connexin 26 (Cx26) in the mouse we have generated a reporter allele (Cx26lacZ) by genetically manipulating the locus so ..
  84. Quwailid M, Hugill A, Dear N, Vizor L, Wells S, Horner E, et al. A gene-driven ENU-based approach to generating an allelic series in any gene. Mamm Genome. 2004;15:585-91 pubmed
    ..It is now available to academic collaborators as a community resource. ..
  85. Plante I, Wallis A, Shao Q, Laird D. Milk secretion and ejection are impaired in the mammary gland of mice harboring a Cx43 mutant while expression and localization of tight and adherens junction proteins remain unchanged. Biol Reprod. 2010;82:837-47 pubmed publisher
    ..Surprisingly, the levels and/or localization of Cx26 (Gjb2), Cx30 (Gjb6), Cx32 (Gjb1), E-cadherin, P-cadherin, beta-catenin, claudin-1, and occludin were all unaffected ..
  86. Schwarz H, Chang Y, Hennemann H, Dahl E, Lalley P, Willecke K. Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridization. Somat Cell Mol Genet. 1992;18:351-9 pubmed
    ..In addition, our results confirm the recent assignment of mouse connexin genes Cx26, Cx32, Cx37, Cx40, Cx43, and Cx46 to mouse chromosomes 14, X, 4, 3, 10, and 14, respectively, by analysis of ..
  87. Ahmad S, Tang W, Chang Q, Qu Y, Hibshman J, Li Y, et al. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc Natl Acad Sci U S A. 2007;104:1337-41 pubmed
    Mutations in genes coding for connexin26 (Cx26) and/or Cx30 are linked to approximately half of all cases of human autosomal nonsyndromic prelingual deafness...
  88. Langlois S, Maher A, Manias J, Shao Q, Kidder G, Laird D. Connexin levels regulate keratinocyte differentiation in the epidermis. J Biol Chem. 2007;282:30171-80 pubmed
    ..When Cx43 expression was knocked down by 50-75%, there was a coordinate 55-65% reduction in Cx26 level, gap junction-based dye coupling was reduced by 60%, and transepithelial resistance decreased...
  89. Kojima T, Morikawa Y, Copeland N, Gilbert D, Jenkins N, Senba E, et al. TROY, a newly identified member of the tumor necrosis factor receptor superfamily, exhibits a homology with Edar and is expressed in embryonic skin and hair follicles. J Biol Chem. 2000;275:20742-7 pubmed
    ..The Troy gene is located near the waved coat (Wc) locus, a mutant related to abnormalities in skin and hair. ..
  90. Vasioukhin V, Bowers E, Bauer C, Degenstein L, Fuchs E. Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol. 2001;3:1076-85 pubmed
    ..DP is therefore required for assembly of functional desmosomes, maintaining cytoskeletal architecture and reinforcing membrane attachments essential for stable intercellular adhesion. ..
  91. Chen J, Zhu Y, Liang C, Chen J, Zhao H. Pannexin1 channels dominate ATP release in the cochlea ensuring endocochlear potential and auditory receptor potential generation and hearing. Sci Rep. 2015;5:10762 pubmed publisher
    ..Moreover, defect of connexin hemichannels by deletion of connexin26 (Cx26) and Cx30, which are predominant connexin isoforms in the cochlea, did not reduce ATP release under physiological ..