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References

These sources were used to develop the Genetics Home Reference gene summary on the GJB2 gene.

Entrez Gene
Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. PubMed citation
Friedman TB, Griffith AJ. Human nonsyndromic sensorineural deafness. Annu Rev Genomics Hum Genet. 2003;4:341-402. Review. PubMed citation
Gerido DA, White TW. Connexin disorders of the ear, skin, and lens. Biochim Biophys Acta. 2004 Mar 23;1662(1-2):159-70. Review. PubMed citation
Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review. PubMed citation
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. PubMed citation
OMIM: GAP JUNCTION PROTEIN, BETA-2
Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. Review. PubMed citation
Sabag AD, Dagan O, Avraham KB. Connexins in hearing loss: a comprehensive overview. J Basic Clin Physiol Pharmacol. 2005;16(2-3):101-16. Review. PubMed citation
Snoeckx RL, Hassan DM, Kamal NM, Van Den Bogaert K, Van Camp G. Mutation analysis of the GJB2 (connexin 26) gene in Egypt. Hum Mutat. 2005 Jul;26(1):60-1. PubMed citation
Thönnissen E, Rabionet R, Arbonès ML, Estivill X, Willecke K, Ott T. Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression. Hum Genet. 2002 Aug;111(2):190-7. Epub 2002 Jun 22. PubMed citation
van Steensel MA. Gap junction diseases of the skin. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):12-9. Review. Erratum in: Am J Med Genet C Semin Med Genet. 2006 Feb 15;142(1):58. PubMed citation
Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Review. PubMed citation


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