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