Citations for
1GJA1, ODDD
Autosomal recessive GJA1 (Cx43) gene mutations cause oculodentodigital dysplasia by distinct mechanisms.
Huang T, Shao Q, MacDonald A, Xin L, Lorentz R, Bai D, Laird DW.
J Cell Sci 126(Pt 13):2857-66. doi: 10.1242/jcs.123315. Epub 2013 Apr 19. 2013
2GJA1, ODDD
A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.
Brice G, Ostergaard P, Jeffery S, Gordon K, Mortimer PS, Mansour S.
Clin Genet 84(4):378-81. doi: 10.1111/cge.12158. Epub 2013 Apr 26. 2013
3GJA1, ODDD
Structure and functional studies of N-terminal Cx43 mutants linked to oculodentodigital dysplasia.
Shao Q, Liu Q, Lorentz R, Gong XQ, Bai D, Shaw GS, Laird DW.
Mol Biol Cell 23(17):3312-21. doi: 10.1091/mbc.E12-02-0128. 2012
4GJA1, ODDD
A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation.
Jamsheer A, Badura-Stronka M, Sowińska A, Debicki S, Kiryluk K, Latos-Bieleńska A.
Clin Genet 78(1):94-7. No abstract available. 2010
5GJA1, ODDD
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas WA, Karczeski B, Vermeer S, Lowry RB, Delatycki M, Laurence F, Koivisto PA, Van Maldergem L, Boyadjiev SA, Bodurtha JN, Jabs EW.
Hum Mutat 30(5):724-33. Review. 2009
6GJA1, ODDD
Report of a black South African child with oculodentodigital dysplasia and a novel GJA1 gene mutation.
Feller L, Wood NH, Sluiter MD, Noffke C, Raubenheimer EJ, Lemmer J, van Rensburg EJ.
Am J Med Genet A 146A(10):1350-3. No abstract available. 2008
7GJA1, ODDD
ODDD-linked Cx43 mutants reduce endogenous Cx43 expression and function in osteoblasts and inhibit late stage differentiation.
McLachlan E, Plante I, Shao Q, Tong D, Kidder GM, Bernier SM, Laird DW.
J Bone Miner Res 23(6):928-38.PMID: 18269311 2008
8ODDD, GJA1
Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.
Lai A, Le DN, Paznekas WA, Gifford WD, Jabs EW, Charles AC.
J Cell Sci 119(Pt 3):532-41. Epub 2006 Jan 17. 2006
9GJA1, ODDD
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
Kelly SC, Ratajczak P, Keller M, Purcell SM, Griffin T, Richard G.
Eur J Dermatol 16(3):241-5. 2006
10GJA1, ODDD
Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma.
Gong XQ, Shao Q, Lounsbury CS, Bai D, Laird DW.
J Biol Chem 281(42):31801-11. Epub 2006 Aug 6. 2006
11GJA1, ODDD
A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.
Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S.
Am J Med Genet A 133(1):58-60. 2005
12ODDD, GJA1
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP.
Eur J Med Genet 48(4):377-87. 2005
13GJA1, ODDD
Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia.
Shibayama J, Paznekas W, Seki A, Taffet S, Jabs EW, Delmar M, Musa H.
Circ Res 96(10):e83-91. Epub 2005 May 5. 2005
14ODDD, GJA1
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R, Donnai D, Meire F, Dixon MJ.
J Med Genet 41(1):60-7. No abstract available. 2004
15ODDD, GJA1
Novel Connexin 43 (GJA1) mutation causes oculo-dento-digital dysplasia with curly hair.
Kjaer KW, Hansen L, Eiberg H, Leicht P, Opitz JM, Tommerup N.
Am J Med Genet 127A(2):152-7. 2004
16GJA1, ODDD
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia
Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW.
Am J Hum Genet 72(2):408-18. 2003
17ODDD
Physical map of the chromosome 6q22 region containing the oculodentodigital dysplasia locus: analysis of thirteen candidate genes and identification of novel ESTs and DNA polymorphisms.
Boyadjiev SA, Chowdry AB, Shapiro RE, Paznekas WA, Wandstrat AE, Choi JW, Kasch L, Zhang G, Wollnik B, Burgess CE, Schalling M, Lovett M, Jabs EW.
Cytogenet Genome Res 98(1):29-37. 2002
18ODDD
Linkage analysis narrows the critical region for oculodentodigital dysplasia to chromosome 6q22-q23.
Boyadjiev SA, et al.
Genomics 58(1):34-40. 1999
19GJA1,ODDD
Localization of a gene for oculodentodigital syndrome to human chromosome 6q22-q24.
Gladwin A, et al.
Hum Mol Genet 6 : 123-127. 1997