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51 Capecchi, Mario R.Mice with targeted disruptions in the paralogous genes hoxa-3 and hoxd-3 reveal synergistic interactions.The Hox genes encode transcription factors which mediate the formation of the mammalian body plan along the anteroposterior and appendicular axes. Paralogous Hox genes within the separate linkage groups are closely related with respect to DNA sequence and expression, suggesting that they could have ...Animals; Atlas; Homozygote; Mice; Models, Genetic1994-07-28
52 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
53 Capecchi, Mario R.Targeted disruption of the even-skipped gene, evx1, causes early postimplantation lethality of the mouse conceptus.Implantation within the mammalian uterus elicits dramatic changes in the growth, differentiation, and morphogenesis of the conceptus. This process is interrupted in mice carrying a targeted disruption of the murine evx1 gene, a homolog of the Drosophila even-skipped (eve) gene. Upon implantation, pr...Extraembryonic; Homozygotes; Drosophila1994-08-15
54 Rogers, Alan R.; Jorde, Lynn B.Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic dataTo test hypotheses about the origin of modern humans, we analyzed mtDNA sequences, 30 nuclear restriction-site polymorphisms (RSPs), and 30 tetranucleotide short tandem repeat (STR) polymorphisms in 243 Africans, Asians, and Europeans. An evolutionary tree based on mtDNA displays deep African branch...Base Sequence; Variation (Genetics); Base Sequence1995
55 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
56 Capecchi, Mario R.Genetic interaction between hoxb-5 and hoxb-6 is revealed by nonallelic noncomplementation.hoxb-5 and hoxb-6 are adjacent genes in the mouse HoxB locus and are members of the homeotic transcription factor complex that governs establishment of the mammalian body plan. To determine the roles of these genes during development, we generated mice with a targeted disruption in each gene. Three ...Alleles; CCAAT-Enhancer-Binding Proteins; Cervical Vertebrae; DNA-Binding Proteins; Forelimb; Genetic Complementation Test1995-01-01
57 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
58 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
59 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
60 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
61 Franklin Institute award dinner and ceremony held May 1, 1997This is a 1 hour, 42 minutes, 53 seconds video of the 1997 Franklin Institute Awards Banquet and Ceremony. The awards included a summary of each winner's achievements, the presentation of the award, and an acceptance speech. The award winners included Ralph L. Brinster, the Bower Award and Prize f...Transgenic mice; Gene targeting; Genetic engineering; Molecular genetics; Mutagenesis; Homeobox genes; Histology - Pathological; Gene expression; Gene regulation; Genotype; Phenotype1997
62 Gesteland, Raymond F.; Atkins, John F.; Felden, Brice; McCutcheon, John P.Probing the structure of the Escherichia coli 10Sa RNA (tmRNA)The conformation of the Escherichia coli 10Sa RNA (tmRNA) in solution was investigated using chemical and enzymatic probes. Single- and double-stranded domains were identified by hydrolysis of tmRNA in imidazole buffer and by lead(II)-induced cleavages. Ribonucleases T1 and S1 were used to map unpai...Covariation; Pseudoknot; Structural Probing; 10Sa RNA; tmRNA1997
63 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
64 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
65 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
66 KUTV news featurette on cloning, molecular genetics, and disease aired November 9, 1997This 3 minutes, 1 second video clip from Salt Lake City's KUTV, Channel 2 features a short interview with Mario Capecchi concerning cloning and its use in molecular genetics and the study of human diseases.Gene targeting; Genetic engineering; Molecular genetics; Cancer Research; Capecchi, Mario R.; Science - Moral and ethical aspects; Human chromosome abnormalities - Diagnosis; Television feature stories1997-11-09
67 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
68 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
69 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
70 Genetics in Utah : NPR talk of the nation, science Friday for May 15, 1998This is a 1 hour, 9 seconds audio transcript of National Public Radio's Science Friday that was taped at Westminster College of Salt Lake on 1998/05/15. The host, Ira Flatow, leads a panel composed of University of Utah scientists and researchers, Jeffrey Bodkin, Mario Capecchi, Ray Gesteland, Mark...Genetic engineering; Molecular genetics; Capecchi, Mario R.; Homeobox genes; Science - Moral and ethical aspects; Human chromosome abnormalities - Diagnosis1998
71 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
72 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
73 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
74 Capecchi, Mario R.Hoxc13 mutant mice lack external hairHox genes are usually expressed temporally and spatially in a colinear manner with respect to their positions in the Hox complex. Consistent with the expected pattern for a paralogous group 13 member, early embryonic Hoxc13 expression is found in the nails and tail. Hoxc13 is also expressed in vibri...Filiform papillae; Homozygotes; Paralogous1998-01-01
75 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
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