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