SplicePort—An interactive splice-site analysis tool

1996 CENR Initiatives

SplicePort is a web-based tool for splice-site analysis that allows the user to make splice-site predictions for submitted sequences. In addition, the user can also browse the rich catalog of features that underlies these predictions, and which we have found capable of providing high classification accuracy on human splice sites. Feature selection is optimized for human splice sites, but the se...

Identification of a Novel Splice Site Mutation in RUNX2 Gene in a Family with Rare Autosomal Dominant Cleidocranial Dysplasia

Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...

THE DESIGN, MODELING AND EVALUATION OF POTENTIAL HIV PROTEASE INHIBITORS USING BLITZ, AN INTERACTIVE COMPUTER GRAPHICS WORKING TOOL

Several nonpeptide small molecules were designed as potential inhibitors of HIV protease and their structures were constructed by computer-aided molecular modeling and docked iwo the active site of HIV protease. Models of the complexes of inhibitors and the HIV protease were refined using nonbonded and H-bonding terms. The refined energy of selected complexes showed that the designed inhib...

A Novel Splice Site Mutation in HPS1 Gene is Associated with Hermansky-Pudlak Syndrome-1 (HPS1) in an Iranian Family

P-127: Characterization of Filia, A Maternal Effect Gene, in Bovine Oocytes and Embryos

Background: Genetic analysis in mice has lead to find about maternal effect genes such as Filia. Filia knock out mice have a 50% decrease in fertility. Filia dysfunction causes disorders in pre-implantation development. Mutations in human Filia gene, cause FBHM (Familial Biparental Hydatidiform Mole) in women. Filia protein in mice is homologous to that of rat and human, so this idea has emerge...