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1 Lopansri, Bert; Stoddard, Gregory J.; Hobbs, Maurine R.; Granger, Donald LeeElevated plasma phenylalanine in severe malaria and implications for pathophysiology of neurological complications.Cerebral malaria is associated with decreased production of nitric oxide and decreased levels of its precursor, l-arginine. Abnormal amino acid metabolism may thus be an important factor in malaria pathogenesis. We sought to determine if other amino acid abnormalities are associated with disease sev...Dystonia; Phenylalanine Hydroxylase; Tyrosine2006-06-01
2 Gesteland, Raymond F.; Baranov, Pavel V.; Atkins, John F.; Hammer, Andrew W.Transcriptional slippage in bacteria: distribution in sequenced genomes and utilization in IS element gene expressionABSTRACT: Background: Transcription slippage occurs on certain patterns of repeat mononucleotides, resulting in synthesis of a heterogeneous population of mRNAs. Individual mRNA molecules within this population differ in the number of nucleotides they contain that are not specified by the templat...Transcription slippage; Bacterial genomes; IS element genes2005
3 Jorde, Lynn B.Clinical and biochemical function of polymorphic NR0B1 GGAA-microsatellites in Ewing sarcoma: A report from the Childrens Oncology GroupBackground: The genetics involved in Ewing sarcoma susceptibility and prognosis are poorly understood. EWS/FLI and related EWS/ETS chimeras upregulate numerous gene targets via promoter-based GGAA-microsatellite response elements. These microsatellites are highly polymorphic in humans, and prelimina...2014-01-01
4 Digre, Kathleen B.; Gouw, Launce G.; Harris, Catherine P.; Haines, John H.; Ptacek, L.J.Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred.The autosomal dominant cerebellar ataxias (ADCA) comprise a heterogeneous group of neurologic disorders characterized by degeneration of the cerebellum, spinal cord, and brainstem. Genetic analysis has revealed two loci, SCA1 on chromosome 6p, and SCA2 on chromosome 12q, responsible for some ADCA. W...Retinal Degeneration; Cerebellar Ataxia; Genetic Analysis1994-08
5 Gouw, Launce G.; McKenna, Catherine K.; Digre, Kathleen B.; Placek, Louis J.Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission.The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected individuals. Subjects with abnormal expansions co...Genetics; Biosynthesis; SCA7 Gene1998-03-07
6 Gesteland, Raymond F.; Letsou, Anthea; Ivanov, Ivaylo P.; Simin, Karl; Atkins, John F.Drosophila gene for antizyme requires ribosomal frameshifting for expression and contains an intronic gene for snRNP Sm D3 on the opposite strandPreviously, a Drosophila melanogaster sequence with high homology to the sequence for mammalian antizyme (ornithine decarboxylase antizyme) was reported. The present study shows that homology of this coding sequence to its mammalian antizyme counterpart also extends to a 5* open reading frame (ORF...Ornithine decarboxylase antizyme; Binding proteins1998
7 Gesteland, Raymond F.; Baranov, Pavel V.; Atkins, John F.Expression levels influence ribosomal frameshifting at the tandem rare arginine codons AGG_AGG and AGA_AGA in Escherichia coliABSTRACT: The rare codons AGG and AGA comprise 2% and 4%, respectively, of the arginine codons of Escherichia coli K-12, and their cognate tRNAs are sparse. At tandem occurrences of either rare codon, the paucity of cognate aminoacyl tRNAs for the second codon of the pair facilitates peptidyl-tRNA...Gene expression; Frameshifting; E. coli; Arginine codons2005
8 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
9 Gesteland, Raymond F.; Alam, Steve L.; Nelson, Chad; Felden, Brice; Atkins, John F.Effects of 3'-terminal phosphates in RNA produced by ribozyme cleavageDuring the course of a structural investigation of a selenocysteine insertion element from rat Type 1 iodothyronine 59-deiodinase (D1 SECIS), we wished to prepare milligram quantities of an RNA that comprised the upper stem/loop of this RNA structure (41 nt; Fig+ 1A)+ This stem/loop is a stimul...In vitro runoff transcription; RNA; Trans-acting ribozymes1998
10 Gesteland, Raymond F.; Atkins, John F.; Wills, Norma M.-1 frameshifting at a CGA AAG hexanucleotide site is required for transposition of insertion sequence IS1222The discovery of programmed _x0001_1 frameshifting at the hexanucleotide shift site CGA_AAG, in addition to the classical X_XXY_YYZ heptanucleotide shift sequences, prompted a search for instances among eubacterial insertion sequence elements. IS1222 has a CGA_AAG shift site. A genetic analysis re...Hexanucleotides; Heptanucleotides; Frameshifting2004
11 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
12 Mansour, Suzanne L.Fgf10 is required for specification of non-sensory regions of the cochlear epitheliumThe vertebrate inner ear is a morphologically complex sensory organ comprised of two compartments, the dorsal vestibular apparatus and the ventral cochlear duct, required for motion and sound detection, respectively. Fgf10, in addition to Fgf3, is necessary for the earliest stage of otic placode ind...2014-01-01
13 Gesteland, Raymond F.; Atkins, John F.; Baranov, Pavel V.Diverse bacterial genomes encode an operon of two genes, one of which is an unusual class-I release factor that potentially recognizes atypical mRNA signals other than normal stop codonsABSTRACT: Background: While all codons that specify amino acids are universally recognized by tRNA molecules, codons signaling termination of translation are recognized by proteins known as class-I release factors (RF). In most eukaryotes and archaea a single RF accomplishes termination at all three...Class-I release factors; RF1; RF2; Bacterial genomes2006
14 Gesteland, Raymond F.; Ivanov, Ivaylo P.; Atkins, John F.Programmed frameshifting in the synthesis of mammalian antizyme is +1 in mammals, predominantly +1 in fission yeast but "2 in budding yeastThe coding sequence for mammalian ornithine decarboxylase antizyme is in two different partially overlapping reading frames with no independent ribosome entry to the second ORF. Immediately before the stop codon of the first ORF, a proportion of ribosomes undergo a quadruplet translocation event t...Antizyme; Frameshifting; Ornithine decarboxylase antizyme; Recoding; S. pombe1998
15 Gesteland, Raymond F.; Atkins, John F.; Howard, Michael T.Efficient stimulation of site-specific ribosome frameshifting by antisense oligonucleotidesEvidence is presented that morpholino, 2_x0001_-O-methyl, phosphorothioate, and RNA antisense oligonucleotides can direct sitespecific âˆ'1 translational frameshifting when annealed to mRNA downstream from sequences where the P- and A-site tRNAs are both capable of re-pairing with âˆ'1 frame c...Recoding; Frameshifting; Antisense; Morpholino; Phosphorothioate; 2_x0001_-O-methyl2004
16 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
17 Capecchi, Mario R.Hox group 3 paralogous genes act synergistically in the formation of somitic and neural crest-derived structures.Hox genes encode transcription factors that are used to regionalize the mammalian embryo. Analysis of mice carrying targeted mutations in individual and multiple Hox genes is beginning to reveal a complex network of interactions among these closely related genes which is responsible for directing th...Abnormalities, Multiple; Gene Targeting; Glossopharyngeal Nerve; Mice, Knockout; Morphogenesis1997-12-15
18 Capecchi, Mario R.Gene targeting. How efficient can you get?With targeting in Leishmania and Trypanosoma, there are now greater incentives to develop the technology in organisms of intermediate complexity such as Caenorhabditis elegans and Drosophila. The ratio of homologous to nonhomologus recombination in these organisms might prove to be greater than in m...Animals; DNA Mutational Analysis; Recombination, Genetic1990-11-08
19 Gesteland, Raymond F.Processing of adenovirus 2-induced proteinsAnalysis of (35)S-methionine-labeled extracts of adenovirus 2-infected KB cells revealed 22 virus-induced polypeptide components. Most proteins of the virion were easily detected in extracts of whole cells labeled for short periods between 15 and 30 h after infection; however, several virion compone...Adenoviridae; Viral Proteins; Protein Precursors; Methionine; Mouth Neoplasms1973
20 Capecchi, Mario R.Gene targeting: tapping the cellular telephone.Gene targeting means that we now have the potential to generate mice of virtually any desired genotype. In the first instance, standards recombinant DNA technology is used to alter a cloned DNA sequence of a chosen locus; the modified potent stem cell derived from a mouse embryo, and homologous reco...Animals; Blotting, Southern; Bone and Bones; Gene Targeting; Genotype; Immunochemistry; In Situ Hybridization; Mice1990-03-08
21 Gesteland, Raymond F.; Atkins, John F.Origin and destiny of adenovirus proteinsLytic infection of human cells by adenovirus proceeds by a temporal expression of genes. Classically two phases have been defined: an early phase, which includes events occurring before the onset of DNA synthesis (8 hours), and a late phase, including events whose existence depends on the onset of...Protein Biosynthesis; DNA, Viral; Adenoviridae; RNA, Viral; Time Factors1975
22 Capecchi, Mario R.Male fertility is dependent on dipeptidase activity of testis ACE.Testis angiotensin-converting enzyme (ACE) is an isozyme exclusively expressed by developing sperm. This protein has only a single catalytic domain containing the HEXXH consensus-site motif typical of zinc metallopeptidases. The exact role of testis ACE is unknown, but male mice lacking the protein ...Amino Acid Motifs; Blotting, Western; Catalytic Domain; Comparative Study; Isoenzymes; Protein Structure, Tertiary2005-11-11
23 Capecchi, Mario R.Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands.The thymus, thyroid, and parathyroid glands in vertebrates develop from the pharyngeal region, with contributions both from pharyngeal endoderm and from neural crest cells in the pharyngeal arches. Hoxa3 mutant homozygotes have defects in the development of all three organs. Roles for the Hoxa3 para...Animals, Newborn; Calcitonin; Ectoderm; Gene Dosage; Genotype; Mice, Mutant Strains; Phenotype1998-03-01
24 Capecchi, Mario R.Targeted mutations in hoxa-9 and hoxb-9 reveal synergistic interactions.Mice were generated with a targeted disruption of the homeobox-containing gene hoxb-9. Mice homozygous for this mutation show defects in the development of the first and second ribs. In most cases the first and second ribs are fused near the point at which the first and second pairs of ribs normally...Embryonic and Fetal Development; In Situ Hybridization; Mice, Knockout1997-01-15
25 Gesteland, Raymond F.Simian virus 40-specific polypeptides in Ad2+ND4- infected cellsA comparison of the proteins synthesized in human cells at late times after infection with adenovirus (Ad2) and with the adeno-simian virus 40 (SV40) hybrid viruses revealed polypeptides of 30,000 and 92,000 molecular weight specific for the hybrid viruses Ad2+ND1 and Ad2+ND4, respectively. Cell-fre...Molecular Weight; Peptide Biosynthesis; RNA, Messenger; Viral Proteins1976
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