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Results: 1 to 20 of 138

1.

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. 2013 Jul 1;126(Pt 13):2857-66. doi: 10.1242/jcs.123315. Epub 2013 Apr 19.

PMID:
23606748
[PubMed - indexed for MEDLINE]
Free Article
2.

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. 2012 Sep;23(17):3312-21. doi: 10.1091/mbc.E12-02-0128. Epub 2012 Jul 18.

PMID:
22809623
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The severity of mammary gland developmental defects is linked to the overall functional status of Cx43 as revealed by genetically modified mice.

Stewart MK, Gong XQ, Barr KJ, Bai D, Fishman GI, Laird DW.

Biochem J. 2013 Jan 15;449(2):401-13. doi: 10.1042/BJ20121070.

PMID:
23075222
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Myogenic bladder defects in mouse models of human oculodentodigital dysplasia.

Huang T, Shao Q, Barr K, Simek J, Fishman GI, Laird DW.

Biochem J. 2014 Feb 1;457(3):441-9. doi: 10.1042/BJ20130810.

PMID:
24228978
[PubMed - indexed for MEDLINE]
5.

Syndromic and non-syndromic disease-linked Cx43 mutations.

Laird DW.

FEBS Lett. 2014 Apr 17;588(8):1339-48. doi: 10.1016/j.febslet.2013.12.022. Epub 2014 Jan 14. Review.

PMID:
24434540
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
7.

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ.

PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.

PMID:
23951358
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
15879313
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
17420259
[PubMed - indexed for MEDLINE]
Free Article
11.

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.

PMID:
16891658
[PubMed - indexed for MEDLINE]
Free Article
12.

Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

Roscoe W, Veitch GI, Gong XQ, Pellegrino E, Bai D, McLachlan E, Shao Q, Kidder GM, Laird DW.

J Biol Chem. 2005 Mar 25;280(12):11458-66. Epub 2005 Jan 10.

PMID:
15644317
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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. 2006 Feb 1;119(Pt 3):532-41. Epub 2006 Jan 17.

PMID:
16418219
[PubMed - indexed for MEDLINE]
Free Article
15.

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.

PMID:
18003637
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Gap junctions and hemichannels in signal transmission, function and development of bone.

Batra N, Kar R, Jiang JX.

Biochim Biophys Acta. 2012 Aug;1818(8):1909-18. doi: 10.1016/j.bbamem.2011.09.018. Epub 2011 Sep 22. Review.

PMID:
21963408
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
16155213
[PubMed - indexed for MEDLINE]
Free Article
19.

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
[PubMed - indexed for MEDLINE]
Free Article
20.

Characterization of gap junction proteins in the bladder of Cx43 mutant mouse models of oculodentodigital dysplasia.

Lorentz R, Shao Q, Huang T, Fishman GI, Laird DW.

J Membr Biol. 2012 Jun;245(5-6):345-55. doi: 10.1007/s00232-012-9455-1. Epub 2012 Jul 3.

PMID:
22752022
[PubMed - indexed for MEDLINE]
Free PMC Article

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