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1 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
2 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
3 Purification and characterization of mouse hypoxanthine-guanine phosphoribosyltransferase.Hypoxanthine-guanine phosphoribosyltransferase (HGPR transferase) (EC 2.4.2.8) 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
4 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
5 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
6 Dual-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
7 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
8 Patterns of integration of DNA microinjected into cultured mammalian cells: evidence for homologous recombination between injected plasmid DNA molecules.We examined the fate of DNA microinjected into nuclei of cultured mammalian cells. The sequence composition and the physical form of the vector carrying the selectable gene affected the efficiency of DNA-mediated transformation. Introduction of sequences near the simian virus 40 origin of DNA replic...Base Sequence; Cell Line; Genes, Viral; Genetic Vectors; Mice; Microinjections1982-11
9 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
10 Virtual histology of transgenic mouse embryos for high-throughput phenotyping.A bold new effort to disrupt every gene in the mouse genome necessitates systematic, interdisciplinary approaches to analyzing patterning defects in the mouse embryo. We present a novel, rapid, and inexpensive method for obtaining high-resolution virtual histology for phenotypic assessment of mouse ...Forkhead Transcription Factors; Paired Box Transcription Factors2006
11 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
12 Xanthine oxidoreductase is central to the evolution and function of the innate immune system.The housekeeping enzyme xanthine oxidoreductase (XOR) has been studied intensively over the past 100 years, yet the complexity of its in vivo function is still poorly understood. A large body of literature focuses on the different catalyltic forms of XOR and their importance in the synthesis of reac...Animals; Gene Expression Regulation, Enzymologic; Humans; Immune System; Models, Biological2003-09-01
13 -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
14 Synthesis of an ochre suppressor tRNA gene and expression in mammalian cells.We have used site-specific mutagenesis to change the anticodon of a Xenopus laevis tyrosine tRNA gene so that it would recognize ochre codons. This tRNA gene is expressed when amplified in monkey cells as part of a SV40 recombinant and efficiently suppresses termination at both the ochre codon separ...Xenopus; Nucleic Acid Conformation; Kidney; DNA Restriction Enzymes1984-11
15 Protein synthesis directed by DNA phage messengers.Even through the amino acids corresponding to most of the 64 nucleotide triplets are now known, several important aspects of the genetic code are not yet fully understood. In particular we need more knowledge about the "punctuation marks" of the code-for example, the signals necessary for the initia...Carbon Isotopes; Escherichia coli; Genetic Code; Methionine1967-09-01
16 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
17 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
18 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
19 Hoxb8 is required for normal grooming behavior in mice.Repertoires of grooming behaviors critical to survival are exhibited by most animal species, including humans. Genes that influence this complex behavior are unknown. We report that mice with disruptions of Hoxb8 show, with 100% penetrance, excessive grooming leading to hair removal and lesions. Add...Aging; Alleles; Animals, Newborn; Behavior, Animal; Bone and Bones; Disease Models, Animal; Mice, Knockout Nerve Net2002-01-03
20 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
21 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
22 N-formylmethionyl-sRNA as the initiator of protein synthesis.A bizarre fast about Nterminal groups of bacterial proteins. Instead of a random mixture, that the great majority of N-terminal groups were either methionine or alanine. This finding suggested that methionine and alanine constituted start signals for the initiation of polypeptide chains. Alternative...Electrophoresis; Formates; In Vitro; Methionine1966-01-01
23 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
24 How much can fossils tell us about regional continuity?Presents a study on the genetic contribution of earlier populations to later populations within regions called regional continuity. Testing for regional continuity with multiple characters; Replacement of archaic population by a population of modern humans.Human genetics; Fossils; Regional continuity2006-06-05
25 Hoxb1 functions in both motoneurons and in tissues of the periphery to establish and maintain the proper neuronal circuitry.Formation of neuronal circuits in the head requires the coordinated development of neurons within the central nervous system (CNS) and neural crest-derived peripheral target tissues. Hoxb1, which is expressed throughout rhombomere 4 (r4), has been shown to be required for the specification of facial...Rhombomere 4; Branchiomotor; Cranial Nerve2004-07-04
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