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26 Gesteland, Raymond F.; Atkins, John F.Evolutionary specialization of recoding: frameshifting in the expression of S. cerevisiae antizyme mRNA is via an atypical antizyme shift site but is still +1An autoregulatory translational shift to the +1 frame is required for the expression of ornithine decarboxylase antizyme from fungi to mammals. In most eukaryotes, including all vertebrates and a majority of the studied fungi/yeast, the site on antizyme mRNA where the shift occurs is UCC-UGA. The me...Antizyme; ODC; Polyamines; Frameshifting2006
27 Gesteland, Raymond F.; Atkins, John F.; Baranov, Pavel V.P-site tRNA is a crucial initiator of ribosomal frameshiftingThe expression of some genes requires a high proportion of ribosomes to shift at a specific site into one of the two alternative frames. This utilized frameshifting provides a unique tool for studying reading frame control. Peptidyl-tRNA slippage has been invoked to explain many cases of programmed ...Translation; Recoding; Kinetic Model; Frameshifting; Ribosome2004
28 Capecchi, Mario R.High efficiency transformation by direct microinjection of DNA into cultured mammalian cells.Direct microinjection of DNA by glass micropipettes was used to introduce the Herpes simplex virus thymidine kinase gene into cultured mammalian cells. When DNA was delivered directly into the nuclei of LMTK-, a mouse cell line deficient in thymidine kinase activity, 50--100% of the cells expressed ...Cell Nucleus; Cytoplasm; DNA, Viral; Microinjections; Recombination, Genetic1980-11-22
29 Eichwald, Ernst; Capecchi, Mario R.; Thomas, Kirk R.Mouse model for the delta F508 allele of cystic fibrosisThe most common cause of cystic fibrosis is a mutation that deletes phenylalanine 508 in cystic fibrosis transmembrane conductance regulator (CFTR). The delta F508 protein is misprocessed and degraded rather than traveling to the apical membrane. We used a novel strategy to introduce the delta F508 ...Digestive System; Disease Models, Animal; Electrolytes; Mice, Inbred C57BL1995-10
30 Hansen, Mark S.; Coffin, Cheryl M.; Capecchi, Mario R.Pax3:Fkhr interferes with embryonic Pax3 and Pax7 function: implications for alveolar rhabdomyosarcoma cell of origin.To investigate the role of the translocation-associated gene Pax3:Fkhr in alveolar rhabdomyosarcomas, we generated a Cre-mediated conditional knock-in of Pax3:Fkhr into the mouse Pax3 locus. Exploring embryonic tumor cell origins, we replaced a Pax3 allele with Pax3:Fkhr throughout its expression do...Neuroprogenitor; Embryogenesis2004-11-01
31 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
32 Robison, Reid Justin; Farley, Megan A.; Cannon, Dale Sherman; Allen Brady, Kristina Lisa; Matsunami, Norisada; Stevens, Jeffery; Baird, Lisa M.; Varvil, Tena; Leppert, Mark F.; McMahon, William M.; Coon, Hilary H.Copy number variation in a follow-up of adults with ASD: a behavioral phenotype-genotype studyAutistic Spectrum Disorders (ASD) are a set of complex, early-onset neurodevelopmental disorders. Recent studies have revealed a complex genetic landscape for ASD, with many potential genes involved. Little is known about the long-term outcome of individuals with ASD who were diagnosed in childhoo...Autistic spectrum disorders; Copy number variation; Genotyping; Trapeze Interactive Poster2010-03-15
33 Auduong, Priscilla; Murphy, Kelley J.; Schmid, Aloisia T.Spinal muscular atrophy in DrosophilaSpinal Muscular Atrophy (SMA) is the most commonly inherited form of motor neuronal disease in humans and a leading cause of infant mortality. SMA is characterized by a loss of motor neurons which lead to muscle degeneration, paralysis, and eventual death by respiratory failure. More than ninety-f...Trapeze Interactive Poster2010-03-15
34 Capecchi, Mario R.Choose your target.The technology of modifying endogenous genes has recently been extended from mice to Drosophila and sheep. Concurrently, genomic sequencing is uncovering thousands of previously uncharacterized genes. Armed with today's technologies, what are our best options for delineating the functions of these n...Animals; Mice; Sheep2000-09-13
35 Capecchi, Mario R.Homologous recombination between coinjected DNA sequences peaks in early to mid-S phase.We have examined the effect of cell cycle position on homologous recombination between plasmid molecules coinjected into synchronized rat fibroblasts. Recombination activity was found to be low in G1 and to rise 10- to 15-fold, peaking in early to mid-S phase.Cell Line; Kinetics; Plasmids1986-06
36 Capecchi, Mario R.Yeast super-suppressors are altered tRNAs capable of translating a nonsense codon in vitro.tRNA isolated from two different yeast super-suppressor strains translates a known nonsense mutation in vitro, whereas tRNA from a closely related nonsuppressing strain does not. Suppression was assayed by translation of RNA isolated from an amber coat mutant of bacteriophage Qbeta (GB11) in a prote...Codon; Escherichia coli; Protein Biosynthesis1975-11
37 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
38 Capecchi, Mario R.Lack of angiotensin II-facilitated erythropoiesis causes anemia in angiotensin-converting enzyme-deficient miceWhile nephrologists often observe reduced hematocrit associated with inhibitors of angiotensin-converting enzyme (ACE), the basis for this effect is not well understood. We now report that two strains of ACE knockout mice have a normocytic anemia associated with elevated plasma erythropoietin levels...ACE2000-10-31
39 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
40 Thomas, Kirk R.; Capecchi, Mario R.Maintenance of functional equivalence during paralogous Hox gene evolution.Biological diversity is driven mainly by gene duplication followed by mutation and selection. This divergence in either regulatory or protein-coding sequences can result in quite different biological functions for even closely related genes. This concept is exemplified by the mammalian Hox gene comp...Alleles; Animals; Cervical Vertebrae; Embryo; Genetic Complementation Test; Homeodomain Proteins; Homozygote; Mice2000-02-10
41 Capecchi, Mario R.Illegitimate cre-dependent chromosome rearrangements in transgenic mouse spermatids.The bacteriophage P1 Cre/loxP system has become a powerful tool for in vivo manipulation of the genomes of transgenic mice. Although in vitro studies have shown that Cre can catalyze recombination between cryptic "pseudo-loxP" sites in mammalian genomes, to date there have been no reports of loxP-si...Chromatin; Female; Mice, Inbred C57BL; Phenotype2000-12-05
42 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
43 Capecchi, Mario R.Cleft palate in mice with a targeted mutation in the gamma-aminobutyric acid-producing enzyme glutamic acid decarboxylase 67.The functions of neurotransmitters in fetal development are poorly understood. Genetic observations have suggested a role for the inhibitory amino acid neurotransmitter gamma-aminobutyric acid (GABA) in the normal development of the mouse palate. Mice homozygous for mutations in the beta-3 GABAA rec...Animals, Newborn; Crosses, Genetic1997-10-14
44 Capecchi, Mario R.Introduction: the molecular genetic analysis of mouse developmentThis paper is an introduction of seven different papers presented in "Seminars in developmental biology" on Molecular Genetic Analysis of Mouse Development . The first paper, by Janet Rossant, describes very early mouse development. The second paper, by Frank Conlon and Rosa Beddington provide an i...Embryo Culture Techniques; Genes1995-04
45 Capecchi, Mario R.Polypeptide chain termination in vitro: isolation of a release factor.The growing polypeptide chain remains bound to the ribosome-messenger RNA complex through the sRNA carrying the last amino acid incorporated into the polypeptide chain.' On completion of the polypeptide chain a mechanism must exist for releasing it from the protein-synthesizing machinery. To date, m...Carbon Isotopes; Phenylalanine; Proteins1967-09-01
46 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
47 Capecchi, Mario R.Selective degradation of abnormal proteins in mammalian tissue culture cells.The degradation rates of several missense mutants of hypoxanthine-guanine phosphoribosyltransferase (EC in mouse L cells are compared to those of the wild-type enzyme. Although the rates of total protein breakdown in the mutant cell lines are identical to that of the parental L cell line, ...Gene Expression Regulation; Mice, Transgenic; Microscopy, Fluorescence1974-12-01
48 Capecchi, Mario R.Isolation and characterization of Caenorhabditis elegans DNA sequences homologous to the v-abl oncogene.DNA sequences homologous to the v-abl oncogene were isolated from a Caenorhabditis elegans genomic library by their ability to hybridize with a v-src probe. The DNA sequence of 2465 nucleotides of one clone was determined. This region corresponds to the 5' protein kinase domain of v-abl plus approxi...Amino Acid Sequence; Animals; Base Sequence; Gene Expression Regulation; Transcription, Genetic1986-04
49 Capecchi, Mario R.Reexamination of gene targeting frequency as a function of the extent of homology between the targeting vector and the target locus.Mutations were targeted to the Hprt locus of mouse embryo-derived stem cells by using 22 different sequence replacement and sequence insertion vectors. The targeting frequency was examined at two sites within the Hprt locus as a function of the extent of homology between the targeting vector and the...Cell Line; DNA Transposable Elements; Embryo; Exons; Mice1992-08-12
50 AAMC Award for Distinguished Research presentation for 1998This is a 3 minutes, 51 seconds video of the presentation of the American Association of Medical Colleges' Award for Distinguished Research to Mario Capecchi and Oliver Smithies for their independent work as pioneers in gene targeting.Transgenic mice; Gene targeting; Genetic engineering; Mutagenesis; Capecchi, Mario R.; Science - Awards - United States; Smithies, Oliver; Awards presentations1998
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