| 1 | GJB2, GJB6
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| Tricellular adherens junctions provide a cell surface delivery platform for connexin 26/30 oligomers in the cochlea.
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| Defourny J, Thiry M.
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| Hear Res. Feb;400:108137. doi: 10.1016/j.heares.2020.108137. Epub 2020 Nov 30. 2021
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| 2 | GJB6
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| Neuronal Activity Drives Astroglial Connexin 30 in Perisynaptic Processes and Shapes Its Functions
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| Ghézali G, Vasile F, Curry N, Fantham M, Cheung G, Ezan P, Cohen-Salmon M, Kaminski C, Rouach N.
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| Cereb Cortex. Mar 21;30(2):753-766. doi: 10.1093/cercor/bhz123. 2020
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| 3 | ED2, GJB6
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| GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.
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| Shi X, Li D, Chen M, Liu Y, Yan Q, Yu X, Zhu Y, Li Y.
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| Int J Dermatol. Dec;58(12):1462-1465. doi: 10.1111/ijd.14341. Epub 2019 Jan 8. 2019
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| 4 | GJB2, GJB6
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| Cochlear connexin 30 homomeric and heteromeric channels exhibit distinct assembly mechanisms
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| Defourny J, Thelen N, Thiry M.
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| Mech Dev. Feb;155:8-14. doi: 10.1016/j.mod.2018.10.001. Epub 2018 Oct 5. 2019
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| 5 | GJB6
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| Astroglial Cx30 sustains neuronal population bursts independently of gap-junction mediated biochemical coupling
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| Pannasch U, Dossi E, Ezan P, Rouach N.
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| Glia Jun;67(6):1104-1112. doi: 10.1002/glia.23591. Epub 2019 Feb 22. 2019
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| 6 | ED2, GJB6
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| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
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| Yang R, Hu Z, Kong Q, Li W, Zhang L, Du X, Huang S, Xia X, Sang H.
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| J Eur Acad Dermatol Venereol. Aug;30(8):1362-5. doi: 10.1111/jdv.13600. Epub 2016 May 3 2016
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| 7 | GJB2, GJB6, KID, KID2
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| From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome
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| García IE, Bosen F, Mujica P, Pupo A, Flores-Muñoz C, Jara O, González C, Willecke K, Martínez AD.
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| J Invest Dermatol. Mar;136(3):574-583. doi: 10.1016/j.jid.2015.11.017. Epub 2016 Jan 8. 2016
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| 8 | GJB6, SGCG
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| The Sarcoglycan complex is expressed in the cerebrovascular system and is specifically regulated by astroglial Cx30 channels
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| Boulay AC, Saubaméa B, Cisternino S, Mignon V, Mazeraud A, Jourdren L, Blugeon C, Cohen-Salmon M.
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| Front Cell Neurosci. Feb 2;9:9. doi: 10.3389/fncel.2015.00009. 2015
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| 9 | GJB6, KID2
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| Mutations in GJB6 causing phenotype resembling pachyonychia congenita.
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| Hale GI, Wilson NJ, Smith FJ, Wylie G, Schwartz ME, Zamiri M.
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| Br J Dermatol. 172(5):1447-9. doi: 10.1111/bjd.13520. Epub 2015 Mar 13 2015
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| 10 | GJB2, GJB6
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| Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling.
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| Jagger DJ, Forge A.
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| Cell Tissue Res. Jun;360(3):633-44. doi: 10.1007/s00441-014-2029-z. Epub 2014 Nov 9. 2015
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| 11 | GJB6
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| Cx30 exhibits unique characteristics including a long half-life when assembled into gap junctions
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| Kelly JJ, Shao Q, Jagger DJ, Laird DW.
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| J Cell Sci. Nov 1;128(21):3947-60. doi: 10.1242/jcs.174698. Epub 2015 Sep 10. 2015
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| 12 | GJB6
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| Connexin 30 sets synaptic strength by controlling astroglial synapse invasion.
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| Pannasch U, Freche D, Dallérac G, Ghézali G, Escartin C, Ezan P, Cohen-Salmon M, Benchenane K, Abudara V, Dufour A, Lübke JH, Déglon N, Knott G, Holcman D, Rouach N.
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| Nat Neurosci. Apr;17(4):549-58. doi: 10.1038/nn.3662. Epub 2014 Mar 2. 2014
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| 13 | GJB2, GJB6
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| Hearing is normal without connexin30
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| Boulay AC, del Castillo FJ, Giraudet F, Hamard G, Giaume C, Petit C, Avan P, Cohen-Salmon M.
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| J Neurosci. Jan 9;33(2):430-4. doi: 10.1523/JNEUROSCI.4240-12.2013. 2013
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| 14 | GJB2, GJB6
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| Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.
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| Qu Y, Tang W, Zhou B, Ahmad S, Chang Q, Li X, Lin X.
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| Biochem Biophys Res Commun 417(1):245-50. doi: 10.1016/j.bbrc.2011.11.093. Epub 2011 Nov 28.
2012
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| 15 | GJB6, GJC2
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| Panglial gap junctional communication is essential for maintenance of myelin in the CNS.
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| Tress O, Maglione M, May D, Pivneva T, Richter N, Seyfarth J, Binder S, Zlomuzica A, Seifert G, Theis M, Dere E, Kettenmann H, Willecke K.
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| J Neurosci 32(22):7499-518. doi: 10.1523/JNEUROSCI.0392-12.2012.
2012
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| 16 | GJB2, GJB6
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| Allele-specific impairment of GJB2 expression by GJB6 deletion del(GJB6-D13S1854).
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| Rodriguez-Paris J, Tamayo ML, Gelvez N, Schrijver I.
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| PLoS One 6(6):e21665. doi: 10.1371/journal.pone.0021665. Epub 2011 Jun 29.
2011
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| 17 | DFNA3, GJB2, GJB6
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| Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.
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| Su CC, Li SY, Su MC, Chen WC, Yang JJ.
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| Eur J Hum Genet 18(9):1061-4. Epub 2010 May 5. 2010
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| 18 | DFNB1, GJB2, GJB6
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| A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.
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| Wilch E, Azaiez H, Fisher RA, Elfenbein J, Murgia A, Birkenhäger R, Bolz H, Da Silva-Costa SM, Del Castillo I, Haaf T, Hoefsloot L, Kremer H, Kubisch C, Le Marechal C, Pandya A, Sartorato EL, Schneider E, Van Camp G, Wuyts W, Smith RJ, Friderici KH.
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| Clin Genet 78(3):267-74.
2010
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| 19 | CLDN14, DFNB1, GJB2, GJB3, GJB6
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| Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
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| Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
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| Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28. 2009
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| 20 | CLDN14, GJB2, GJB3, GJB6
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| Mutation in gap and tight junctions in patients with non-syndromic hearing loss.
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| Belguith H, Tlili A, Dhouib H, Ben Rebeh I, Lahmar I, Charfeddine I, Driss N, Ghorbel A, Ayadi H, Masmoudi S.
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| Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28.PMID: 19254696 2009
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| 21 | GJB2, GJB6, P2RX7
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| ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear.
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| Anselmi F, Hernandez VH, Crispino G, Seydel A, Ortolano S, Roper SD, Kessaris N, Richardson W, Rickheit G, Filippov MA, Monyer H, Mammano F.
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| Proc Natl Acad Sci U S A 105(48):18770-5. Epub 2008 Dec 1.
2008
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| 22 | GJB2, GJB6
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| Coordinated control of connexin 26 and connexin 30 at the regulatory and functional level in the inner ear.
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| Ortolano S, Di Pasquale G, Crispino G, Anselmi F, Mammano F, Chiorini JA.
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| Proc Natl Acad Sci U S A 105(48):18776-81. Epub 2008 Dec 1.
2008
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| 23 | DFNB1, GJB2, GJB6
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| Expression of GJB2 and GJB6 Is Reduced in a Novel DFNB1 Allele.
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| Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH.
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| Am J Hum Genet 79(1):174-9. Epub 2006 May 17. 2006
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| 24 | DFNB1, GJB2, GJB6
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| A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness.
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| Gonzalez JR, Wang W, Ballana E, Estivill X.
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| Hum Mutat 27(11):1135-42. 2006
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| 25 | GJB6, MT-TS1
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| Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.
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| Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F.
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| Biochem Biophys Res Commun 340(4):1251-8. Epub 2006 Jan 5. 2006
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| 26 | DFNB1, GJB1, GJB6
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| A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.
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| del Castillo FJ, Rodriguez-Ballesteros M, Alvarez A, Hutchin T, Leonardi E, de Oliveira CA, Azaiez H, Brownstein Z, Avenarius MR, Marlin S, Pandya A, Shahin H, Siemering KR, Weil D, Wuyts W, Aguirre LA, Martin Y, Moreno-Pelayo MA, Villamar M, Avraham KB, Dahl HH, Kanaan M, Nance WE, Petit C, Smith RJ, Van Camp G, Sartorato EL, Murgia A, Moreno F, del Castillo I.
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| J Med Genet 42(7):588-94. No abstract available. 2005
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| 27 | GJB2, GJB6, DFNB1
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| Absent or elevated middle ear muscle reflexes in the presence of normal otoacoustic emissions: a universal finding in 136 cases of auditory neuropathy/dys-synchrony.
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| Berlin CI, Hood LJ, Morlet T, Wilensky D, St John P, Montgomery E, Thibodaux M.
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| J Am Acad Audiol 16(8):546-53. 2005
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| 28 | GJB6
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| Gene structure and promoter analysis of the human GJB6 gene encoding connexin 30.
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| Essenfelder GM, Larderet G, Waksman G, Lamartine J.
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| Gene 350(1):33-40. 2005
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| 29 | ED2, GJB6
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| Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
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| Essenfelder GM, Bruzzone R, Lamartine J, Charollais A, Blanchet-Bardon C, Barbe MT, Meda P, Waksman G.
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| Hum Mol Genet 13(16):1703-14. Epub 2004 Jun 22. 2004
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| 30 | GJB6, KID2
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| Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
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| Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP.
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| J Invest Dermatol 122(5):1108-13. 2004
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| 31 | GJB6
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| Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
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| Teubner B, Michel V, Pesch J, Lautermann J, Cohen-Salmon M, Sohl G, Jahnke K, Winterhager E, Herberhold C, Hardelin JP, Petit C, Willecke K.
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| Hum Mol Genet 12(1):13-21. 2003
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| 32 | GJB1, GJB6, DFNB1
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| Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
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| Del Castillo I, Moreno-Pelayo MA, Del Castillo FJ, Brownstein Z, Marlin S, Adina Q, Cockburn DJ, Pandya A, Siemering KR, Chamberlin GP, Ballana E, Wuyts W, Maciel-Guerra AT, Alvarez A, Villamar M, Shohat M, Abeliovich D, Dahl HH, Estivill X, Gasparini P, Hutchin T, Nance WE, Sartorato EL, Smith RJ, Van Camp G, Avraham KB, Petit C, Moreno F.
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| Am J Hum Genet 73(6):1452-8. Epub 2003 Oct 21. 2003
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| 33 | DFNA3, DFNB1, GJB6
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| A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
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| del Castillo I, Villamar M, Moreno-Pelayo MA, del Castillo FJ, Alvarez A, Telleria D, Menendez I, Moreno F.
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| N Engl J Med 346(4):243-9. 2002
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| 34 | GJB6
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| A novel connexin 30 mutation in Clouston syndrome.
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| Smith FJ, Morley SM, McLean WH.
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| J Invest Dermatol 118(3):530-2. 2002
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| 35 | GJB2, GJB6
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| A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
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| Pallares-Ruiz N, Blanchet P, Mondain M, Claustres M, Roux AF.
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| Eur J Hum Genet 10(1):72-6. 2002
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| 36 | ED2, GJB6
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| Mutations in GJB6 cause hidrotic ectodermal dysplasia.
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| Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G.
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| Nat Genet 26(2):142-4. No abstract available. 2000
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| 37 | GJB6, DFNA3
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| Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
|
| Grifa A, et al.
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| Nat Genet 23(1):16-8. No abstract available 1999
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| 38 | GJB6
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| Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12.
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| Kelley PM, Abe S, Askew JW, Smith SD, Usami Si, Kimberling WJ.
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| Genomics 62(2):172-6. 1999
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| 39 | ED2, GJB2, GJB6
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| The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
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| Kibar Z, et al.
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| Hum Mol Genet 5 : 543-547. 1996
|