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Items: 1 to 20 of 159

1.

A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia.

Flenniken AM, Osborne LR, Anderson N, Ciliberti N, Fleming C, Gittens JE, Gong XQ, Kelsey LB, Lounsbury C, Moreno L, Nieman BJ, Peterson K, Qu D, Roscoe W, Shao Q, Tong D, Veitch GI, Voronina I, Vukobradovic I, Wood GA, Zhu Y, Zirngibl RA, Aubin JE, Bai D, Bruneau BG, Grynpas M, Henderson JE, Henkelman RM, McKerlie C, Sled JG, Stanford WL, Laird DW, Kidder GM, Adamson SL, Rossant J.

Development. 2005 Oct;132(19):4375-86.

2.

Differential potency of dominant negative connexin43 mutants in oculodentodigital dysplasia.

Gong XQ, Shao Q, Langlois S, Bai D, Laird DW.

J Biol Chem. 2007 Jun 29;282(26):19190-202. Epub 2007 Apr 9.

3.

Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene.

van Es RJ, Wittebol-Post D, Beemer FA.

Int J Oral Maxillofac Surg. 2007 Sep;36(9):858-60. Epub 2007 May 16.

PMID:
17509830
4.

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. 2005 May 27;96(10):e83-91. Epub 2005 May 5.

5.

Some oculodentodigital dysplasia-associated Cx43 mutations cause increased hemichannel activity in addition to deficient gap junction channels.

Dobrowolski R, Sommershof A, Willecke K.

J Membr Biol. 2007 Oct;219(1-3):9-17. Epub 2007 Aug 9.

PMID:
17687502
6.

Cerebral ischemic injury is enhanced in a model of oculodentodigital dysplasia.

Kozoriz MG, Lai S, Vega JL, Sáez JC, Sin WC, Bechberger JF, Naus CC.

Neuropharmacology. 2013 Dec;75:549-56. doi: 10.1016/j.neuropharm.2013.05.003. Epub 2013 May 31.

PMID:
23727526
7.

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. 2005 Oct-Dec;48(4):377-87.

PMID:
16378922
8.

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. 2008 Jun;23(6):928-38. doi: 10.1359/jbmr.080217.

9.

Three novel GJA1 missense substitutions resulting in oculo-dento-digital dysplasia (ODDD) - further extension of the mutational spectrum.

Jamsheer A, Sowińska-Seidler A, Socha M, Stembalska A, Kiraly-Borri C, Latos-Bieleńska A.

Gene. 2014 Apr 10;539(1):157-61. doi: 10.1016/j.gene.2014.01.066. Epub 2014 Feb 6.

PMID:
24508941
10.

Ocular manifestations in oculodentodigital dysplasia resulting from a heterozygous missense mutation (L113P) in GJA1 (connexin 43).

Musa FU, Ratajczak P, Sahu J, Pentlicky S, Fryer A, Richard G, Willoughby CE.

Eye (Lond). 2009 Mar;23(3):549-55. doi: 10.1038/eye.2008.77. Epub 2008 Apr 18.

PMID:
18425059
11.

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

Dobrowolski R, Sasse P, Schrickel JW, Watkins M, Kim JS, Rackauskas M, Troatz C, Ghanem A, Tiemann K, Degen J, Bukauskas FF, Civitelli R, Lewalter T, Fleischmann BK, Willecke K.

Hum Mol Genet. 2008 Feb 15;17(4):539-54. Epub 2007 Nov 13.

12.

Decreased levels of Cx43 gap junctions result in ameloblast dysregulation and enamel hypoplasia in Gja1Jrt/+ mice.

Toth K, Shao Q, Lorentz R, Laird DW.

J Cell Physiol. 2010 Jun;223(3):601-9. doi: 10.1002/jcp.22046.

PMID:
20127707
13.

A novel GJA1 missense mutation in a Polish child with oculodentodigital dysplasia.

Jamsheer A, Wisniewska M, Szpak A, Bugaj G, Krawczynski MR, Budny B, Wawrocka A, Latos-Bieleńska A.

J Appl Genet. 2009;50(3):297-9. doi: 10.1007/BF03195687.

PMID:
19638688
14.

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. 2006 Oct 20;281(42):31801-11. Epub 2006 Aug 6.

15.

Fate of connexin43 in cardiac tissue harbouring a disease-linked connexin43 mutant.

Manias JL, Plante I, Gong XQ, Shao Q, Churko J, Bai D, Laird DW.

Cardiovasc Res. 2008 Dec 1;80(3):385-95. doi: 10.1093/cvr/cvn203. Epub 2008 Aug 4.

PMID:
18678643
16.

Ocular pathology relevant to glaucoma in a Gja1(Jrt/+) mouse model of human oculodentodigital dysplasia.

Tsui E, Hill KA, Laliberte AM, Paluzzi D, Kisilevsky I, Shao Q, Heathcote JG, Laird DW, Kidder GM, Hutnik CM.

Invest Ophthalmol Vis Sci. 2011 Jun 1;52(6):3539-47. doi: 10.1167/iovs.10-6399.

PMID:
21273537
17.

Loss of connexin43-mediated gap junctional coupling in the mesenchyme of limb buds leads to altered expression of morphogens in mice.

Dobrowolski R, Hertig G, Lechner H, Wörsdörfer P, Wulf V, Dicke N, Eckert D, Bauer R, Schorle H, Willecke K.

Hum Mol Genet. 2009 Aug 1;18(15):2899-911. doi: 10.1093/hmg/ddp227. Epub 2009 May 12.

PMID:
19439426
18.

Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia.

Tong D, Colley D, Thoo R, Li TY, Plante I, Laird DW, Bai D, Kidder GM.

Dis Model Mech. 2009 Mar-Apr;2(3-4):157-67. doi: 10.1242/dmm.000935. Epub 2009 Feb 23.

19.

Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants.

McLachlan E, Manias JL, Gong XQ, Lounsbury CS, Shao Q, Bernier SM, Bai D, Laird DW.

Cell Commun Adhes. 2005 Jul-Dec;12(5-6):279-92.

PMID:
16531323
20.

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Izumi K, Lippa AM, Wilkens A, Feret HA, McDonald-McGinn DM, Zackai EH.

Am J Med Genet A. 2013 Dec;161A(12):3150-4. doi: 10.1002/ajmg.a.36159. Epub 2013 Oct 2.

PMID:
24115525

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