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Li, V. GJB6 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5659 (accessed on 21 September 2026).
Li V. GJB6 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5659. Accessed September 21, 2026.
Li, Vivi. "GJB6 Gene" Encyclopedia, https://encyclopedia.pub/entry/5659 (accessed September 21, 2026).
Li, V. (2020, December 25). GJB6 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5659
Li, Vivi. "GJB6 Gene." Encyclopedia. Web. 25 December, 2020.
GJB6 Gene
Edit

Gap junction protein beta 6

genes

References

  1. Baris HN, Zlotogorski A, Peretz-Amit G, Doviner V, Shohat M, Reznik-Wolf H,Pras E. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2(Clouston syndrome) broadens its genotypic basis. Br J Dermatol. 2008Dec;159(6):1373-6. doi: 10.1111/j.1365-2133.2008.08796.x.
  2. Fujimoto A, Kurban M, Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M,Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlieClouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013Feb;69(2):159-66. doi: 10.1016/j.jdermsci.2012.11.005.
  3. Kibar Z, Dubé MP, Powell J, McCuaïg C, Hayflick SJ, Zonana J, Hovnanian A,Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R,Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Cloustonhidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a foundereffect in the French Canadian population and fine genetic mapping. Eur J HumGenet. 2000 May;8(5):372-80.
  4. Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaître G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, KelsellDP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C,Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia. NatGenet. 2000 Oct;26(2):142-4.
  5. Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P,Garabédian 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, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C,Denoyelle F. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7.
  6. Mellerio J, Greenblatt D. Hidrotic Ectodermal Dysplasia 2. 2005 Apr 25[updated 2020 Oct 15]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1200/
  7. Nickel R, Forge A. Gap junctions and connexins in the inner ear: their rolesin homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg. 2008Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0. Review.
  8. Smith RJH, Ranum PT. Nonsyndromic Hearing Loss and Deafness, DFNA3. 1998 Sep28 [updated 2016 Dec 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1536/
  9. Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024.
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