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1 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
2 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
3 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
4 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
5 Capecchi, Mario R.Fundamental cellular processes do not require vertebrate-specific sequences within the TATA-binding protein.The 180-amino acid core of the TATA-binding protein (TBPcore) is conserved from Archae bacteria to man. Vertebrate TBPs contain, in addition, a large and highly conserved N-terminal region that is not found in other phyla. We have generated a line of mice in which the tbp allele is replaced with a v...Mice, Knockout; Cells, Cultured; Fibroblasts; Embryo2003-02-21
6 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
7 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
8 Capecchi, Mario R.Hox genes and mammalian developmentWe have examined the interactions of Hox genes in forming a cervical vertebrae, hindbrain, and limbs. In each case, it is apparent that individual Hox genes are performing individual functions but that more profound roles are apparent when they act in combination with others Hox genes. The observed ...Drosophila; Gene Expression Regulation, Developmental; Homozygote1997
9 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
10 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
11 Capecchi, Mario R.Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.Hypoxanthine-guanine phosphoribosyltransferase (HGPR transferase) (EC has been purified approximately 4500-fold to apparent homogeneity from mouse liver. The procedure involves the use of affinity chromatography and was designed to be readily adaptable to small scale isolations. The enzyme ...Buffers; Centrifugation, Density Gradient; Chromatography, Affinity; Chromatography, Gel; Chromatography, Ion Exchange; Electrophoresis, Polyacrylamide Gel1975-01-31
12 Capecchi, Mario R.Polypetide chain termination. Purification of the release factors, R1 and R2, from Escherichia coli.We have extensively purified the release factors RI and Rz from Escherichia coli. These proteins can each mediate polypeptide chain termination. The physiological substrate for this reaction is a completed polypeptide chain in a peptidyl- transfer RNA-messenger RNA-ribosome complex. The reaction con...Acrylates; Detergents1971-02-25
13 Thomas, Kirk R.; Capecchi, Mario R.Nonreciprocal exchanges of information between DNA duplexes coinjected into mammalian. cell nucleiWe have examined the mechanism of homologous recombination between plasmid molecules coinjected into cultured mammalian cells. Cell lines containing recombinant DNA molecules were obtained by selecting for the reconstruction of a functional Neor gene from two plasmids that bear different amber mutat...Animals; Cells, Cultured; DNA Restriction Enzymes; Kinetics1985-01
14 Gesteland, Raymond F.; Atkins, John F.; Ingram, Jennifer A.; Kelly, Paul J.; Grentzmann, GuidoDual-luciferase reporter system for studying recoding signalsA new reporter system has been developed for measuring translation coupling efficiency of recoding mechanisms such as frameshifting or readthrough. A recoding test sequence is cloned in between the renilla and firefly luciferase reporter genes and the two luciferase activities are subsequently measu...Amino Acid Sequence; Genes, Reporter; HIV; Antizyme; Translation1998
15 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
16 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
17 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
18 Capecchi, Mario R.Characterization of three proteins involved in polypeptide chain termination.At each stage of elongation, the growing polypeptide chain is bound to the ribosome-messenger RNA complex through the transfer RNA of the most recently incorporated amino acid residue. When the chain is complete, the last polypeptide-transfer RNA (tuna) ester linkage is cleaved, releasing the chain ...Anti-Bacterial Agents; Phenylalanine; Stimulation, Chemical1969
19 Thomas, Kirk R.; Capecchi, Mario R.High-fidelity gene targeting in embryonic stem cells by using sequence replacement vectors.Mutations were targeted to the Hprt locus in murine embryonic stem cells by using sequence replacement vectors. When the vector was designed such that the mutated sequences were flanked on both sides by several kilobases of DNA homologous to the target locus, replacement of chromosomal sequences wit...Drug Resistance; Gene Rearrangement; Gentamicins1992-07
20 Capecchi, Mario R.Expression of a microinjected porcine class I major histocompatibility complex gene in transgenic mice.A porcine class I major histocompatibility complex (SLA) gene has been introduced into the genome of a C57BL/10 mouse. This transgenic mouse expressed SLA antigen on its cell surfaces and transmitted the gene to offspring, in which the gene is also expressed. Skin grafts of such transgenic mice were...Genetic Engineering; Graft Rejection; Mice, Inbred C57BL1985-05-03
21 Moon, Ann M.; Capecchi, Mario R.Fgf8 is required for outgrowth and patterning of the limbs.The expression pattern and activity of fibroblast growth factor-8 (FGF8) in experimental assays indicate that it has important roles in limb development, but early embryonic lethality resulting from mutation of Fgf8 in the germ line of mice has prevented direct assessment of these roles. Here we rep...Animals; Body Patterning; Bone Morphogenetic Proteins; Ectoderm2000-12-26
22 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
23 Mansour, Suzanne L.; Thomas, Kirk R.; Capecchi, Mario R.Introduction of a lacZ reporter gene into the mouse int-2 locus by homologous recombination.We demonstrate that the frequency of gene targeting is unaffected by the length of nonhomologous DNA transferred to a target chromosomal sequence. A result of this finding is that a much wider spectrum of designed genomic alterations is now feasible. As a first application, we inserted a 5.4-kilobas...Blotting, Southern; Cell Differentiation; Fluorescent Antibody Technique; Restriction Mapping1990-10
24 Capecchi, Mario R.Generating mice with targeted mutations.Mutational analysis is one of the most informative approaches available for the study of complex biological processes. It has been particularly successful in the analysis of the biology of bacteria, yeast, the nematode worm Caenorhabditis elegans and the fruit fly Drosophila melanogaster. Extension ...Animals; Recombination, Genetic; Stem Cells2001-10-01
25 Gesteland, Raymond F.; Weiss, Robert B.Efficient shine- Dalgarno sequence but not translation is necessary for LacZ mRNA stability in Escherichia coliThe 5' ends of many bacterial transcripts are important in determining mRNA stability. A series of Shine-Dalgarno (SD) sequence changes showed that the complementarity of the SD sequence to the anti-SD sequence of 16S rRNA correlates with lacZ mRNA stability in Escherichia coli. Several initiation c...Protein Biosynthesis; Ribosomes; Escherichia coli; Shine-Dalgarno Sequence1994
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