Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.

@article{Lai2006OculodentodigitalDC,
  title={Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells.},
  author={Albert M. Lai and D Le and William A. Paznekas and Wes D. Gifford and Ethylin Wang Jabs and Andrew Charles},
  journal={Journal of cell science},
  year={2006},
  volume={119 Pt 3},
  pages={532-41}
}
Oculodentodigital dysplasia (ODDD) is a rare developmental disorder characterized by craniofacial and limb abnormalities. Over 35 separate mutations in human connexin43 (Cx43) causing ODDD have been identified. Several mutations are also associated with central nervous system involvement, including white-matter changes detected by magnetic resonance imaging. As Cx43 is abundantly expressed in astrocytes, we hypothesized that the mutant Cx43 proteins that produce neurological dysfunction have… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 40 extracted citations

Mutations in cardiovascular connexin genes.

View 13 Excerpts
Highly Influenced

Connexin-caused genetic diseases and corresponding mouse models.

Antioxidants & redox signaling • 2009
View 7 Excerpts
Highly Influenced

Similar Papers

Loading similar papers…