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1 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
2 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
3 Capecchi, Mario R.Absence of radius and ulna in mice lacking hoxa-11 and hoxd-11.Mice with targeted disruptions in Hox genes have been generated to evaluate the role of the Hox complex in determining the mammalian body plan. This complex of 38 genes encodes transcription factors that specify regional information along the embryonic axes. Early in vertebrate evolution an ancestra...Alleles; Animals; Bone and Bones; Carpal Bones2003-09-02
4 Albert Lasker Awards Ceremony, 2001This is the 1 hour, 45 minutes, and 41 seconds video of the Lasker Awards Ceremony and Banquet held in September, 2001. The Albert Lasker Award for Basic Medical Research was given to Mario R. Capecchi, Oliver Smithies, and Martin Evans for their work in genetic research. Martin Evans discovered h...Capecchi, Mario R.; Gene targeting; Embryonic stem cells; Transgenic mice; Genetic engineering; Science - Awards - United States; Smithies, Oliver; Evans, Martin J.; Awards presentations2001
5 Capecchi, Mario R.Altered enzymes in drug-resistant variants of mammalian tissue culture cells.Two selective procedures are compared in an effort to isolate variants of mouse L cells containing structural gene mutations. Among the resulting variant cloned cell lines are found two types of alterations in theenzyme hypoxanthine phosphoribosyl transferase (EC 2.4.2.8.) (1): enzyme with altered ...Drug Resistance; Azaguanine; Clone Cells; Hypoxanthines1973-11
6 Coffin, Cheryl M.; Capecchi, Mario R.Alveolar rhabdomyosarcomas in conditional Pax3:Fkhr mice: cooperativity of Ink4a/ARF and Trp53 loss of function.Alveolar rhabdomyosarcoma is an aggressive childhood muscle cancer for which outcomes are poor when the disease is advanced. Although well-developed mouse models exist for embryonal and pleomorphic rhabdomyosarcomas, neither a spontaneous nor a transgenic mouse model of alveolar rhabdomyosarcoma has...Cell Differentiation; Forkhead Transcription Factors; Myogenic Regulatory Factors2004-11-01
7 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
8 Rogers, Alan R.; Jorde, Lynn B.Ascertainment bias in estimates of average heterozygosityPopulation geneticists work with a nonrandom sample of the human genome. Conventional practice ensures that unusually variable loci are most likely to be discovered and thus included in the sample of loci. Consequently, estimates of average heterozygosity are biased upward. In what follows we descri...Bias (Epidemiology); Biometry; Heterozygote1996-05
9 Gesteland, Raymond F.; Ives, Jeffrey T.; Stockham, Thomas G.Automated film reader for DNA sequencing based on homomorphic deconvolutionAn automated reader for electrophoresis based DNA sequencing methods is described that provides fast and accurate sequence determination. Digitized sequencing lanes are processed with homomorphic blind deconvolution in preparation for peak detection, interlane alignment, peak refinement and base cal...Sequence Analysis; Electrophoresis; Automated Film Reader; Homomorphic Deconvolution1994
10 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
11 Gesteland, Raymond F.Cell-free synthesis of herpes simplex virus proteinsPolyribosomes isolated from herpes simplex virus type I (HSV-1)-infected cells have been used to program a eucaryotic cell-free translation system. At least 10 HSV-specific polypeptides, with apparent molecular weights of 25,000 to 160,000, are synthesized by wild-type HSV-infected polyribosomes. Po...Viral Proteins; Herpes Simplex; Peptide Biosynthesis; Thymidine Kinase1977
12 Gesteland, Raymond F.Characterization of lysozyme messenger and lysozyme synthesized in vitroIn vitro systems for protein systhesis have been in wide use for about 10 years. In most of the early work protein synthesis was measured by following the incorporation of radioactive amino acids into acid precipitable material. This test cannot distinguish between the synthesis of complete, activ...Lysozyme Messenger; Lysozyme Synthesized; Protein Synthesis1969
13 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
14 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
15 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
16 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
17 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
18 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
19 Capecchi, Mario R.Creating mice with targeted disruptions in protooncogenes and homeobox genes, NIH Director's Lecture given May 21, 1992This is an audio transcript of a 1 hour, 2 minutes and 12 seconds lecture given at the National Institutes of Health by Mario Capecchi on 1992/05/21. Beginning with a short summary of the mechanics of gene transfer and the ability to create germline chimera with mutations that become hereditary wit...Transgenic mice; Gene targeting; Genetic engineering; Molecular genetics; Mutagenesis; Homeobox genes; Histology - Pathological; Gene expression; Gene regulation; Genotype; Phenotype1992
20 Capecchi, Mario R.Critical role of tissue angiotensin-converting enzyme as revealed by gene targeting in miceAngiotensin-converting enzyme (ACE) generates the vasoconstrictor angiotensin II, which plays a critical role in maintenance of blood pressure in mammals. Although significant ACE activity is found in plasma, the majority of the enzyme is bound to tissues such as the vascular endothelium. We used ta...Blood pressure; ACE activity; Enzyme1997-03-06
21 Gesteland, Raymond F.; Krapcho, Karen J.; Talbot, Phil; Thulin, CraigCrystallization of the MS2 translational repressor alone and complexed to bromouridineThe coat protein from the MS2 bacteriophage plays a dual role by encapsidating viral RNA and also by binding RNA as a translational repressor. In order to study the isolated dimer in a conformation not influenced by capsid interactions, a mutant molecule was crystallized that is defective in capsid ...Crystallization; RNA Bacteriophage; RNA Hairpin; Translational Repressor1995
22 Capecchi, Mario R.Detection of targeted GFP-Hox gene fuogenesissions during mouse embry.The ability to use a vital cell marker to study mouse embryogenesis will open new avenues of experimental research. Recently, the use of transgenic mice, containing multiple copies of the jellyfish gene encoding the green fluorescent protein (GFP), has begun to realize this potential. Here, we show ...Chimera; Crosses, Genetic; Gestational Age; Green Fluorescent Proteins; Mice, Inbred C57BL; Phenotype1998-10-27
23 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
24 Capecchi, Mario R.; Mansour, Suzanne L.; Thomas, Kirk R.Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes.Gene targeting--homologous recombination of DNA sequences residing in the chromosome with newly introduced DNA sequences--in mouse embryo-derived stem cells promises to provide a means to generate mice of any desired genotype. We describe a positive nd negative selection procedure that enriches 2,00...Animals; Clone Cells; Restriction Mapping; Stem Cells1988-11-24
25 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
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