| 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 | 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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| 3 | 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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| 4 | 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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| 5 | DNM2, GJB2
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| Dynamin 2 interacts with connexin 26 to regulate its degradation and function in gap junction formation.
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| Xiao D, Chen S, Shao Q, Chen J, Bijian K, Laird DW, Alaoui-Jamali MA.
|
| Int J Biochem Cell Biol 55:288-97. doi: 10.1016/j.biocel.2014.09.021.
2014
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| 6 | DFNB1, GJB2
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| Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.
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| Riahi Z, Hammami H, Ouragini H, Messai H, Zainine R, Bouyacoub Y, Romdhane L, Essaid D, Kefi R, Rhimi M, Bedoui M, Dhaouadi A, Feldmann D, Jonard L, Besbes G, Abdelhak S.
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| Gene 525(1):1-4. doi: 10.1016/j.gene.2013.04.078. Epub 2013 May 13.
2013
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| 7 | 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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| 8 | GJB2
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| Permeation of calcium through purified connexin 26 hemichannels.
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| Fiori MC, Figueroa V, Zoghbi ME, Saéz JC, Reuss L, Altenberg GA.
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| J Biol Chem 287(48):40826-34. doi: 10.1074/jbc.M112.383281. Epub 2012 Oct 9.
2012
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| 9 | GJB2, KHM2
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| D66H mutation in GJB2 gene in a Chinese family with classical Vohwinkel syndrome.
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| Qiu Y, Wang Z, Chen N, Song Y, Wang Z, Zhang L.
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| Indian J Dermatol Venereol Leprol 78(5):640-2. doi: 10.4103/0378-6323.100595. No abstract available.
2012
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| 10 | GJB2
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| Critical role of the first transmembrane domain of Cx26 in regulating oligomerization and function.
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| Jara O, Acuña R, García IE, Maripillán J, Figueroa V, Sáez JC, Araya-Secchi R, Lagos CF, Pérez-Acle T, Berthoud VM, Beyer EC, Martínez AD.
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| Mol Biol Cell 23(17):3299-311. Epub 2012 Jul 11.
2012
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| 11 | GJB2
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| pH-dependent channel gating in connexin26 hemichannels involves conformational changes in N-terminus.
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| Wang X, Xu X, Ma M, Zhou W, Wang Y, Yang L.
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| Biochim Biophys Acta 1818(5):1148-57. doi: 10.1016/j.bbamem.2011.12.027. Epub 2012 Jan 5.
2012
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| 12 | 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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| 13 | GJB2, KID
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| Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.
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| Levit NA, Mese G, Basaly MG, White TW.
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| Biochim Biophys Acta 1818(8):2014-9. doi: 10.1016/j.bbamem.2011.09.003. Epub 2011 Sep 10. Review.
2012
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| 14 | EGFR, GJA1, GJB1, GJB2
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| Epidermal growth factor regulates connexin 43 in the human epididymis: role of gap junctions in azoospermia.
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| Dubé E, Dufresne J, Chan PT, Cyr DG.
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| Hum Reprod 27(8):2285-96. doi: 10.1093/humrep/des164. Epub 2012 May 17. 2012
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| 15 | CDH1, GJA1, GJB2, TCF12
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| TCF12 protein functions as transcriptional repressor of E-cadherin, and its overexpression is correlated with metastasis of colorectal cancer.
|
| Lee CC, Chen WS, Chen CC, Chen LL, Lin YS, Fan CS, Huang TS.
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| J Biol Chem 287(4):2798-809. doi: 10.1074/jbc.M111.258947. Epub 2011 Nov 30.
2012
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| 16 | GJB2, PTK2
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| Focal adhesion kinase modulates radial glia-dependent neuronal migration through connexin-26.
|
| Valiente M, Ciceri G, Rico B, Marín O.
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| J Neurosci 31(32):11678-91. doi: 10.1523/JNEUROSCI.2678-11.2011.
2011
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| 17 | 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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| 18 | DFNB1, GJB2
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| Vestibular dysfunction in DFNB1 deafness.
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| Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS.
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| Am J Med Genet A 155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4.
2011
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| 19 | DFNB1, GJB2
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| Temporal bone abnormalities in children with GJB2 mutations.
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| Kenna MA, Rehm HL, Frangulov A, Feldman HA, Robson CD.
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| Laryngoscope 121(3):630-5. doi: 10.1002/lary.21414. Epub 2011 Feb 4.
2011
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| 20 | GJB2, KID
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| Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss.
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| Terrinoni A, Codispoti A, Serra V, Bruno E, Didona B, Paradisi M, Nisticò S, Campione E, Napolitano B, Diluvio L, Melino G.
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| Biochem Biophys Res Commun 395(1):25-30. Epub 2010 Mar 20.
2010
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| 21 | GJB2
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| Are GJB2 mutations an aggravating factor in the phenotypic expression of mitochondrial non-syndromic deafness?
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| Kokotas H, Grigoriadou M, Korres GS, Ferekidou E, Giannoulia-Karantana A, Kandiloros D, Korres S, Petersen MB.
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| J Hum Genet 55(5):265-9. Epub 2010 Mar 19. Review.PMID: 20300122 2010
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| 22 | GJB2, KHM2, KID
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| Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene.
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| Birkenhäger R, Lüblinghoff N, Prera E, Schild C, Aschendorff A, Arndt S.
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| Am J Med Genet A 152A(7):1798-802.PMID: 20583176 2010
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| 23 | 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.
|
| 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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| 24 | 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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| 25 | DFNAC, DFNB1, GJB2, GJB3
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| Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31.
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| Liu XZ, Yuan Y, Yan D, Ding EH, Ouyang XM, Fei Y, Tang W, Yuan H, Chang Q, Du LL, Zhang X, Wang G, Ahmad S, Kang DY, Lin X, Dai P.
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| Hum Genet 125(1):53-62. Epub 2008 Dec 3.
2009
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| 26 | DFNB1, GJB2
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| Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
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| Hilgert N, Huentelman MJ, Thorburn AQ, Fransen E, Dieltjens N, Mueller-Malesinska M, Pollak A, Skorka A, Waligora J, Ploski R, Castorina P, Primignani P, Ambrosetti U, Murgia A, Orzan E, Pandya A, Arnos K, Norris V, Seeman P, Janousek P, Feldmann D, Marlin S, Denoyelle F, Nishimura CJ, Janecke A, Nekahm-Heis D, Martini A, Mennucci E, Tóth T, Sziklai I, Del Castillo I, Moreno F, Petersen MB, Iliadou V, Tekin M, Incesulu A, Nowakowska E, Bal J, Van de Heyning P, Roux AF, Blanchet C, Goizet C, Lancelot G, Fialho G, Caria H, Liu XZ, Xiaomei O, Govaerts P, Grønskov K, Hostmark K, Frei K, Dhooge I, Vlaeminck S, Kunstmann E, Van Laer L, Smith RJ, Van Camp G.
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| Eur J Hum Genet 17(4):517-24. Epub 2008 Nov 5.
2009
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| 27 | CLDN14, DFNB1, GJB2, GJB3, GJB6
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| 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.
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| Biochem Biophys Res Commun 385(1):1-5. Epub 2009 Feb 28. 2009
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| 28 | 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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| 29 | GJB2, GJA1
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| Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease.
|
| Laird DW.
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| J Biol Chem 283(6):2997-3001. Epub 2007 Dec 18. 2008
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| 30 | GJB2, HID, KHM2, KID
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| A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
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| de Zwart-Storm EA, Hamm H, Stoevesandt J, Steijlen PM, Martin PE, van Geel M, van Steensel MA.
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| J Med Genet 45(3):161-6. Epub 2007 Nov 9. 2008
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| 31 | DFNB1, GJB2
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| The analysis of three markers flanking GJB2 gene suggests a single origin of the most common 35delG mutation in the Moroccan population.
|
| Abidi O, Boulouiz R, Nahili H, Imken L, Rouba H, Chafik A, Barakat A.
|
| Biochem Biophys Res Commun 377(3):971-4. Epub 2008 Oct 24.
2008
|
| 32 | 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.
|
| 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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| 33 | GJB2, GJB6
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| 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
|
| 34 | DFNB1, GJB2
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| Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population.
|
| Han SH, Park HJ, Kang EJ, Ryu JS, Lee A, Yang YH, Lee KR.
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| J Hum Genet 53(11-12):1022-8. Epub 2008 Dec 2.
2008
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| 35 | GJB2
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| Connexin26 expression is associated with aggressive phenotype in human papillary and follicular thyroid cancers.
|
| Naoi Y, Miyoshi Y, Taguchi T, Kim SJ, Arai T, Maruyama N, Tamaki Y, Noguchi S.
|
| Cancer Lett 262(2):248-56. Epub 2008 Jan 10.PMID: 18191019 2008
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| 36 | DFNA3, GJB2
|
| A novel M163L mutation in connexin 26 causing cell death and associated with autosomal dominant hearing loss.
|
| Matos TD, Caria H, Simões-Teixeira H, Aasen T, Dias O, Andrea M, Kelsell DP, Fialho G.
|
| Hear Res 240(1-2):87-92. Epub 2008 Apr 3.
2008
|
| 37 | GJB2, KID
|
| Malignant proliferating pilar tumors arising in KID syndrome: A report of two patients.
|
| Nyquist GG, Mumm C, Grau R, Crowson AN, Shurman DL, Benedetto P, Allen P, Lovelace K, Smith DW, Frieden I, Hybarger CP, Richard G.
|
| Am J Med Genet A 143(7):734-41. 2007
|
| 38 | DFNB1, GJB2
|
| Additional clinical manifestations in children with sensorineural hearing loss and biallelic GJB2 mutations: who should be offered GJB2 testing?
|
| Kenna MA, Rehm HL, Robson CD, Frangulov A, McCallum J, Yaeger D, Krantz ID.
|
| Am J Med Genet A 143(14):1560-6. 2007
|
| 39 | DFNB1, GJB2
|
| Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.
|
| Welch KO, Marin RS, Pandya A, Arnos KS.
|
| Am J Med Genet A 143(14):1567-73. Review. 2007
|
| 40 | GJB2, DFNB1
|
| M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance.
|
| Pollak A, Sk—rka A, Mueller-Malesi–ska M, Kostrzewa G, Kisiel B, Walig—ra J, Krajewski P, O?dak M, Korniszewski L, Skarzy–ski H, Ploski R.
|
| Am J Med Genet A 143(21):2534-43. 2007
|
| 41 | GJB2, KHM2
|
| A novel GJB2 mutation p.Asn54His in a patient with palmoplantar keratoderma, sensorineural hearing loss and knuckle pads.
|
| Akiyama M, Sakai K, Arita K, Nomura Y, Ito K, Kodama K, McMillan JR, Kobayashi K, Sawamura D, Shimizu H.
|
| J Invest Dermatol 127(6):1540-3. Epub 2007 Jan 25. No abstract available.
2007
|
| 42 | DFNB1, 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
|
| 43 | GJB2
|
| Pathogenetic role of the deafness-related M34T mutation of Cx26.
|
| Bicego M, Beltramello M, Melchionda S, Carella M, Piazza V, Zelante L, Bukauskas FF, Arslan E, Cama E, Pantano S, Bruzzone R, D'Andrea P, Mammano F.
|
| Hum Mol Genet 15(17):2569-87. Epub 2006 Jul 18. 2006
|
| 44 | GJB2
|
| The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
|
| Dahl HH, Tobin SE, Poulakis Z, Rickards FW, Xu X, Gillam L, Williams J, Saunders K, Cone-Wesson B, Wake M.
|
| J Med Genet 43(11):850-5. Epub 2006 Jul 13. 2006
|
| 45 | DFNB1, 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
|
| 46 | GJB2, DFNB1
|
| GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.
|
| Kalay E, Caylan R, Kremer H, de Brouwer AP, Karaguzel A.
|
| Hear Res 203(1-2):88-93. 2005
|
| 47 | GJB2, HID, KID
|
| GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.
|
| Janecke AR, Hennies HC, Gunther B, Gansl G, Smolle J, Messmer EM, Utermann G, Rittinger O.
|
| Am J Med Genet A 133(2):128-31. 2005
|
| 48 | GJB2
|
| In vitro and in vivo suppression of GJB2 expression by RNA interference.
|
| Maeda Y, Fukushima K, Nishizaki K, Smith RJ.
|
| Hum Mol Genet 14(12):1641-50. Epub 2005 Apr 27. 2005
|
| 49 | GJB2, DFNA3, KHM2
|
| Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.
|
| Piazza V, Beltramello M, Menniti M, Colao E, Malatesta P, Argento R, Chiarella G, Gallo LV, Catalano M, Perrotti N, Mammano F, Cassandro E.
|
| Clin Genet 68(2):161-6. 2005
|
| 50 | GJB2, DFNB1
|
| High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
|
| Alvarez A, del Castillo I, Villamar M, Aguirre LA, Gonzalez-Neira A, Lopez-Nevot A, Moreno-Pelayo MA, Moreno F.
|
| Am J Med Genet A 137(3):255-8. 2005
|
| 51 | TSG13D, LATS2, CRYL1, IFT88, GJB2
|
| Molecular genetic evidence supporting a novel human hepatocellular carcinoma tumor suppressor locus at 13q12.11.
|
| Chen CF, Yeh SH, Chen DS, Chen PJ, Jou YS.
|
| Genes Chromosomes Cancer 44(3):320-8. 2005
|
| 52 | DFNB1, GJB2
|
| GJB2 gene mutations in Slovak hearing-impaired patients of Caucasian origin: spectrum, frequencies and SNP analysis.
|
| Minarik G, Ferakova E, Ficek A, Polakova H, Kadasi L.
|
| Clin Genet 68(6):554-7. No abstract available. 2005
|
| 53 | GJB2, 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
|
| 54 | GJB2, DFNB1
|
| GJB2 mutations and degree of hearing loss: a multicenter study.
|
| Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Lopponen T, Lopponen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G.
|
| Am J Hum Genet 77(6):945-57. Epub 2005 Oct 19. 2005
|
| 55 | KID, GJB2
|
| KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.
|
| Bygum A, Betz RC, Kragballe K, Steiniche T, Peeters N, Wuyts W, Nothen MM.
|
| Acta Derm Venereol 85(2):152-5. 2005
|
| 56 | GJB2, DFNB1
|
| GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
| Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabedian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Helias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F.
|
| Arch Otolaryngol Head Neck Surg 131(6):481-7. 2005
|
| 57 | DFNA3,GJB2
|
| Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss.
|
| Melchionda S, Bicego M, Marciano E, Franze A, Morgutti M, Bortone G, Zelante L, Carella M, D'Andrea P.
|
| Biochem Biophys Res Commun 337(3):799-805. Epub 2005 Sep 28. 2005
|
| 58 | GJB2, DFNB1
|
| Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.
|
| Gazzaz B, Weil D, Rais L, Akhyat O, Azeddoug H, Nadifi S.
|
| Hear Res 210(1-2):80-4. Epub 2005 Oct 21. 2005
|
| 59 | GJB2, DFNB1
|
| The frequency of GJB2 mutations and the Delta (GJB6-D13S1830) deletion as a cause of autosomal recessive non-syndromic deafness in the Kurdish population.
|
| Mahdieh N, Nishimura C, Ali-Madadi K, Riazalhosseini Y, Yazdan H, Arzhangi S, Jalalvand K, Ebrahimi A, Kazemi S, Smith RJ, Najmabadi H.
|
| Clin Genet 65(6):506-8. No abstract available. 2004
|
| 60 | GJB2, DFNB1
|
| Further evidence for heterozygote advantage of GJB2 deafness mutations: a link with cell survival.
|
| Common JE, Di WL, Davies D, Kelsell DP.
|
| J Med Genet 41(7):573-5. No abstract available. 2004
|
| 61 | GJB2, KID
|
| A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.
|
| Montgomery JR, White TW, Martin BL, Turner ML, Holland SM.
|
| J Am Acad Dermatol 51(3):377-82. 2004
|
| 62 | CDH23, GJB2
|
| Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family
|
| de Brouwer AP, Pennings RJ, Roeters M, Van Hauwe P, Astuto LM, Hoefsloot LH, Huygen PL, van den Helm B, Deutman AF, M Bork J, Kimberling WJ, Cremers FP, Cremers CW, Kremer H.
|
| Hum Genet 112(2):156-63. 2003
|
| 63 | GJB2, KID
|
| De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome
|
| Alvarez A, Del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Moreno F, Moreno R, Tapia MC.
|
| Am J Med Genet 117A(1):89-91. No abstract available. 2003
|
| 64 | DFNA3, DFNB1, GJB2, HID, KHM2, KID
|
| Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
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