Gene Review:
GJB6 - gap junction protein, beta 6, 30kDa
Homo sapiens
Synonyms:
CX30, Connexin-30, Cx30, DFNA3, DFNA3B, ...
- Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. Kelley, P.M., Abe, S., Askew, J.W., Smith, S.D., Usami, S., Kimberling, W.J. Genomics (1999)
- Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. Jan, A.Y., Amin, S., Ratajczak, P., Richard, G., Sybert, V.P. J. Invest. Dermatol. (2004)
- Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis. Di, W.L., Gu, Y., Common, J.E., Aasen, T., O'Toole, E.A., Kelsell, D.P., Zicha, D. J. Cell. Sci. (2005)
- Connexins 26, 30, and 43: differences among spontaneous, chronic, and accelerated human wound healing. Brandner, J.M., Houdek, P., Hüsing, B., Kaiser, C., Moll, I. J. Invest. Dermatol. (2004)
- The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Feldmann, D., Denoyelle, F., Blons, H., Lyonnet, S., Loundon, N., Rouillon, I., Hadj-Rabia, S., Petit, C., Couderc, R., Garabédian, E.N., Marlin, S. Am. J. Med. Genet. A (2005)
- Mutations in GJB6 cause hidrotic ectodermal dysplasia. Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaître, G., Hand, C., Hayflick, S.J., Zonana, J., Antonarakis, S., Radhakrishna, U., Kelsell, D.P., Christianson, A.L., Pitaval, A., Der Kaloustian, V., Fraser, C., Blanchet-Bardon, C., Rouleau, G.A., Waksman, G. Nat. Genet. (2000)
- Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Ahmad, S., Tang, W., Chang, Q., Qu, Y., Hibshman, J., Li, Y., Söhl, G., Willecke, K., Chen, P., Lin, X. Proc. Natl. Acad. Sci. U.S.A. (2007)
- Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele. Wilch, E., Zhu, M., Burkhart, K.B., Regier, M., Elfenbein, J.L., Fisher, R.A., Friderici, K.H. Am. J. Hum. Genet. (2006)
- Rat gap junction connexin-30 inhibits proliferation of glioma cell lines. Princen, F., Robe, P., Gros, D., Jarry-Guichard, T., Gielen, J., Merville, M.P., Bours, V. Carcinogenesis (2001)
- 1alpha,25-Dihydroxy-2beta(3-hydroxypropoxy)vitamin D(3) (ED-71) suppressed callus remodeling but did not interfere with fracture healing in rat femora. Cao, Y., Mori, S., Mashiba, T., Kaji, Y., Manabe, T., Iwata, K., Miyamoto, K., Komatsubara, S., Yamamoto, T. Bone (2007)
- Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands. Pandya, A., Arnos, K.S., Xia, X.J., Welch, K.O., Blanton, S.H., Friedman, T.B., Garcia Sanchez, G., Liu MD, X.Z., Morell, R., Nance, W.E. Genet. Med. (2003)
- Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment. Samanich, J., Lowes, C., Burk, R., Shanske, S., Lu, J., Shanske, A., Morrow, B.E. Am. J. Med. Genet. A (2007)
- A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. del Castillo, I., Villamar, M., Moreno-Pelayo, M.A., del Castillo, F.J., Alvarez, A., Tellería, D., Menéndez, I., Moreno, F. N. Engl. J. Med. (2002)
- Targeted epidermal expression of mutant Connexin 26(D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Bakirtzis, G., Choudhry, R., Aasen, T., Shore, L., Brown, K., Bryson, S., Forrow, S., Tetley, L., Finbow, M., Greenhalgh, D., Hodgins, M. Hum. Mol. Genet. (2003)
- Modulation of connexin expression and gap junction communication in astrocytes by the gram-positive bacterium S. aureus. Esen, N., Shuffield, D., Syed, M.M., Kielian, T. Glia (2007)
- Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Palmada, M., Schmalisch, K., Böhmer, C., Schug, N., Pfister, M., Lang, F., Blin, N. Neurobiol. Dis. (2006)
- Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Common, J.E., Becker, D., Di, W.L., Leigh, I.M., O'Toole, E.A., Kelsell, D.P. Biochem. Biophys. Res. Commun. (2002)
- Serum placental protein 14 (PP14) reflects endometrial status during hormone replacement therapy. Byrjalsen, I., Thormann, L., Meinecke, B., Riis, B.J., Christiansen, C. Hum. Reprod. (1992)
- Myositis ossificans progressiva. Clinical features of eight patients and their response to treatment. Smith, R., Russell, R.G., Woods, C.G. The Journal of bone and joint surgery. British volume. (1976)
- The role of Kupffer cells in the surveillance of tumor growth in the liver. Zhang, W., Arii, S., Sasaoki, T., Adachi, Y., Funaki, N., Higashitsuji, H., Fujita, S., Furutani, M., Mise, M., Ishiguro, S. J. Surg. Res. (1993)
- The rat macrophage scavenger receptor CD163: Expression, regulation and role in inflammatory mediator production. Polfliet, M.M., Fabriek, B.O., Daniëls, W.P., Dijkstra, C.D., van den Berg, T.K. Immunobiology (2006)
- K+ cycling and the endocochlear potential. Wangemann, P. Hear. Res. (2002)
- Direct regulation of the Xenopus engrailed-2 promoter by the Wnt signaling pathway, and a molecular screen for Wnt-responsive genes, confirm a role for Wnt signaling during neural patterning in Xenopus. McGrew, L.L., Takemaru, K., Bates, R., Moon, R.T. Mech. Dev. (1999)
- Ethnicity and mutations in GJB2 (connexin 26) and GJB6 (connexin 30) in a multi-cultural Canadian paediatric Cochlear Implant Program. Propst, E.J., Stockley, T.L., Gordon, K.A., Harrison, R.V., Papsin, B.C. Int. J. Pediatr. Otorhinolaryngol. (2006)
- Connexin-associated deafness and speech perception outcome of cochlear implantation. Taitelbaum-Swead, R., Brownstein, Z., Muchnik, C., Kishon-Rabin, L., Kronenberg, J., Megirov, L., Frydman, M., Hildesheimer, M., Avraham, K.B. Arch. Otolaryngol. Head Neck Surg. (2006)
- Expression of gap junction proteins (connexin 26, 30, 32, 43) in normal mucosa, hyperkeratosis and carcinoma of the human larynx. Schneider, B., Teschner, M., Sudermann, T., Pikula, B., Lautermann, J. ORL J. Otorhinolaryngol. Relat. Spec. (2002)