| 1 | 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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| 2 | 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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| 3 | 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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| 4 | GJB3, EKV, PNHI, DFNAC
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| Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth.
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| Unsworth HC, Aasen T, McElwaine S, Kelsell DP.
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| Hum Mol Genet 16(2):165-72. Epub 2006 Dec 1. 2007
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| 5 | GJB3
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| Properties of human connexin 31, which is implicated in hereditary dermatological disease and deafness.
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| Abrams CK, Freidin MM, Verselis VK, Bargiello TA, Kelsell DP, Richard G, Bennett MV, Bukauskas FF.
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| Proc Natl Acad Sci U S A 103(13):5213-8. Epub 2006 Mar 20. 2006
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| 6 | GJB3
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| Clinical and genetic heterogeneity of erythrokeratoderma variabilis.
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| Common JE, O'Toole EA, Leigh IM, Thomas A, Griffiths WA, Venning V, Grabczynska S, Peris Z, Kansky A, Kelsell DP.
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| J Invest Dermatol 125(5):920-7. 2005
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| 7 | GJB3, GJB4, EKV
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| A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilis.
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| Morley SM, White MI, Rogers M, Wasserman D, Ratajczak P, McLean WH, Richard G.
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| Br J Dermatol 152(6):1143-8. 2005
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| 8 | DFNAC, EKV, GJB3
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| A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein.
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| Gottfried I, Landau M, Glaser F, Di WL, Ophir J, Mevorah B, Ben-Tal N, Kelsell DP, Avraham KB.
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| Hum Mol Genet 11(11):1311-6. 2002
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| 9 | GJB3
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| Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations.
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| Di WL, Monypenny J, Common JE, Kennedy CT, Holland KA, Leigh IM, Rugg EL, Zicha D, Kelsell DP.
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| Hum Mol Genet 11(17):2005-14. 2002
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| 10 | GJB3, PNHI
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| Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment.
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| Lopez-Bigas N, Olive M, Rabionet R, Ben-David O, Martinez-Matos JA, Bravo O, Banchs I, Volpini V, Gasparini P, Avraham KB, Ferrer I, Arbones ML, Estivill X.
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| Hum Mol Genet 10(9):947-52. 2001
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| 11 | DFNAC, GJB3
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| Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.
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| Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE.
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| Hum Mol Genet 9(1):63-7 2000
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| 12 | EKV, GJB3
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| The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3.
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| Richard G, Brown N, Smith LE, Terrinoni A, Melino G, Mackie RM, Bale SJ, Uitto J.
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| Hum Genet 106(3):321-9. 2000
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| 13 | EKV, GJB3
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| Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis.
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| Wilgoss A, Leigh IM, Barnes MR, Dopping-Hepenstal P, Eady RA, Walter JM, Kennedy CT, Kelsell DP.
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| J Invest Dermatol 113(6):1119-22. 1999
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| 14 | DFNAC, GJB3
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| Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
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| Xia JH, et al.
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| Nat Genet 20 : 370-373. 1998
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| 15 | EKV, GJB3, GJB5
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| Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis.
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| Richard G, et al.
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| Nat Genet 20(4):366-9. 1998
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| 16 | GJB3
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| Characterization and mapping of two novel human connexins to the candidate region for erythrokeratodermia variabilis (EKV) on chromosome 1p. (abstr)
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| Richard G, et al.
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| Am J Hum Genet 61 : A181. 1997
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