UScholar Works
 
Filters: Department: "Human Genetics" Collection: "ir_uspace"
1 - 25 of 9
Number of results to display per page
CreatorTitleDescriptionSubjectDate
1 Gesteland, Raymond F.; Wills, Norma M.; Atkins, John F.Comparative studies of frameshifting and nonframeshifting RNA pseudoknots: a mutational and NMR investigation of pseudoknots derived from the bacteriophage T2 gene 32 mRNA and the retroviral gag-pro frameshift siteMutational and NMR methods were used to investigate features of sequence, structure, and dynamics that are associated with the ability of a pseudoknot to stimulate a "1 frameshift. In vitro frameshift assays were performed on retroviral gag-pro frameshift-stimulating pseudoknots and their derivati...Frameshifting; NMR; Pseudoknot; Retrovirus2002
2 Bernstein, Paul S.; Leppert, Mark F.Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblingsPURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli...DNA Mutational Analysis; Nuclear Family; Phenotype2002
3 Gesteland, Raymond F.; Atkins, John F.Influence of the stacking potential of the base 3' of tandem shift codons on -1 ribosomal frameshifting used for gene expressionTranslating ribosomes can shift reading frame at specific sites with high efficiency for gene expression purposes. The most common type of shift to the 1 frame involves a tandem realignment of two anticodons from pairing with mRNA sequence of the form X XXY YYZ to XXX YYY Z where the spaces indicate...1 frameshifting; 39 context effect; Codon anticodon interaction; Escherichia coli ; Recoding; tRNALys; XXXY YYZ frameshift motifs2002
4 Capecchi, Mario R.Developmental defects of the ear, cranial nerves and hindbrain resulting from targeted disruption of the mouse homeobox gene Hox-1.6.Gene targeting in mouse embryo-derived stem cells has been used to generate mice with a disruption in the homeobox gene Hox-1.6. Mice heterozygous at the Hox-1.6 locus appear normal, whereas Hox-1.6-/Hox-1.6- mice die at or shortly after birth. These homozygotes exhibit profound defects in the forma...Chromosome Mapping; Genetic Vectors; Mice, Inbred C57BL2002-06-27
5 Capecchi, Mario R.Duplication of the Hoxd11 gene causes alterations in the axial and appendicular skeleton of the mouse.The Hox genes encode a group of transcription factors essential for proper development of the mouse. Targeted mutation of the Hoxd11 gene causes reduced male fertility, vertebral transformation, carpal bone fusions, and reductions in digit length. A duplication of the Hoxd11 gene was created with th...Animals; Bone Development; Forelimb; Gene Expression Regulation, Developmental2002-09-01
6 Capecchi, Mario R.Housekeeping gene xanthine oxidoreductase is necessary for milk fat droplet enveloping and secretion: gene sharing in the lactating mammary gland.Xanthine oxidoreductase (XOR) is the rate-limiting enzyme in purine catabolism occurring in most cell types. However, this housekeeping gene is expressed at very high levels in a number of mammalian tissues including the lactating mammary epithelium, suggesting additional roles for XOR in these tiss...Body Weight; Cell Differentiation; Cell Membrane; Epithelium2002-12-15
7 Capecchi, Mario R.Hox11 paralogous genes are essential for metanephric kidney inductionThe mammalian Hox complex is divided into four linkage groups containing 13 sets of paralogous genes. These paralogous genes have retained functional redundancy during evolution. For this reason, loss of only one or two Hox genes within a paralogous group often results in incompletely penetrant phen...Metanephric; Six2; Wt12002-06-01
8 Capecchi, Mario R.Hoxb8 is required for normal grooming behavior in mice.Repertoires of grooming behaviors critical to survival are exhibited by most animal species, including humans. Genes that influence this complex behavior are unknown. We report that mice with disruptions of Hoxb8 show, with 100% penetrance, excessive grooming leading to hair removal and lesions. Add...Aging; Alleles; Animals, Newborn; Behavior, Animal; Bone and Bones; Disease Models, Animal; Mice, Knockout Nerve Net2002-01-03
9 Capecchi, Mario R.Removing the vertebrate-specific TBP N terminus disrupts placental beta2m-dependent interactions with the maternal immune systemMammalian TBP consists of a 180 amino acid core that is common to all eukaryotes, fused to a vertebrate-specific N-terminal domain. We generated mice having a modified tbp allele, tbp(DeltaN), that produces a version of TBP lacking 111 of the 135 vertebrate-specific amino acids. Most tbp(DeltaN/Delt...Alleles; Animals, Genetically Modified; Binding Sites; Embryonic and Fetal Development; Evolution, Molecular; Female; Fetus; Immune Tolerance; Male; Mice; Mutation; ATA-Box Binding Protein2002-07-12
1 - 25 of 9