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References

These sources were used to develop the Genetics Home Reference gene summary on the GJA1 gene.

Danesh-Meyer HV, Green CR. Focus on molecules: connexin 43--mind the gap. Exp Eye Res. 2008 Dec;87(6):494-5. doi: 10.1016/j.exer.2008.01.021. Epub 2008 Feb 6. Review. PubMed citation
Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86. PubMed citation
Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. PubMed citation
Entrez Gene
Hossain MZ, Boynton AL. Regulation of Cx43 gap junctions: the gatekeeper and the password. Sci STKE. 2000 Oct 17;2000(54):pe1. Review. PubMed citation
Laird DW. Closing the gap on autosomal dominant connexin-26 and connexin-43 mutants linked to human disease. J Biol Chem. 2008 Feb 8;283(6):2997-3001. Epub 2007 Dec 18. Review. PubMed citation
Laird DW. Life cycle of connexins in health and disease. Biochem J. 2006 Mar 15;394(Pt 3):527-43. Review. PubMed citation
Liu XZ, Xia XJ, Adams J, Chen ZY, Welch KO, Tekin M, Ouyang XM, Kristiansen A, Pandya A, Balkany T, Arnos KS, Nance WE. Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet. 2001 Dec 1;10(25):2945-51. PubMed citation
OMIM: GAP JUNCTION PROTEIN, ALPHA-1
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. Epub 2002 Nov 27. PubMed citation
Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H. Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circ Res. 2005 May 27;96(10):e83-91. Epub 2005 May 5. PubMed citation
van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. PubMed citation
Vreeburg M, de Zwart-Storm EA, Schouten MI, Nellen RG, Marcus-Soekarman D, Devies M, van Geel M, van Steensel MA. Skin changes in oculo-dento-digital dysplasia are correlated with C-terminal truncations of connexin 43. Am J Med Genet A. 2007 Feb 15;143(4):360-3. PubMed citation


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