Opitz G/BBB syndrome in Xp22: mutations in the MID1 gene cluster in the carboxyl-terminal domain

Article Abstract:

Opitz G/BBB syndrome is associated with mutations in the MID1 protein's carboxyl-terminal domain. This domain appears to play a significant role in midline development during blastogenesis. The MID1 gene is located on Xp22. The complete structure of the MID1 gene has been determined and mutational analysis performed for all nine exons in 40 unrelated patients with Opitz G/BBB syndrome. Six new mutations have been identified in addition to three previously known ones.

Gene mutations, Gene mutation, Birth defects

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RNA interference-mediated suppression and replacement of human rhodopsin in vivo

Article Abstract:

The investigation of therapeutics comprising of gene suppression in conjunction with gene replacement is presented. The results have shown that suppression and replacement can provide a therapeutic solution for dominantly inherited disorders such as rhodopsin gene (RHO)-linked retinitis pigmentosa (RP) and can be used to circumvent mutational heterogeneity.

United States, Science & research, Gene therapy, Suppression, Genetic, Rhodopsin, RNA interference, Suppressor mutation

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