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  • 1
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    Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I (2011)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2011-04-09
    Description: Small nuclear RNAs (snRNAs) are essential factors in messenger RNA splicing. By means of homozygosity mapping and deep sequencing, we show that a gene encoding U4atac snRNA, a component of the minor U12-dependent spliceosome, is mutated in individuals with microcephalic osteodysplastic primordial dwarfism type I (MOPD I), a severe developmental disorder characterized by extreme intrauterine growth retardation and multiple organ abnormalities. Functional assays showed that mutations (30G〉A, 51G〉A, 55G〉A, and 111G〉A) associated with MOPD I cause defective U12-dependent splicing. Endogenous U12-dependent but not U2-dependent introns were found to be poorly spliced in MOPD I patient fibroblast cells. The introduction of wild-type U4atac snRNA into MOPD I cells enhanced U12-dependent splicing. These results illustrate the critical role of minor intron splicing in human development.〈br /〉〈br /〉〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380448/" target="_blank"〉〈img src="https://static.pubmed.gov/portal/portal3rc.fcgi/4089621/img/3977009" border="0"〉〈/a〉   〈a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3380448/" target="_blank"〉This paper as free author manuscript - peer-reviewed and accepted for publication〈/a〉〈br /〉〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉He, Huiling -- Liyanarachchi, Sandya -- Akagi, Keiko -- Nagy, Rebecca -- Li, Jingfeng -- Dietrich, Rosemary C -- Li, Wei -- Sebastian, Nikhil -- Wen, Bernard -- Xin, Baozhong -- Singh, Jarnail -- Yan, Pearlly -- Alder, Hansjuerg -- Haan, Eric -- Wieczorek, Dagmar -- Albrecht, Beate -- Puffenberger, Erik -- Wang, Heng -- Westman, Judith A -- Padgett, Richard A -- Symer, David E -- de la Chapelle, Albert -- GM079527/GM/NIGMS NIH HHS/ -- GM093074/GM/NIGMS NIH HHS/ -- P30 CA16058/CA/NCI NIH HHS/ -- R01 GM079527/GM/NIGMS NIH HHS/ -- R01 GM079527-04/GM/NIGMS NIH HHS/ -- R01 GM093074/GM/NIGMS NIH HHS/ -- R01 GM093074-01A1/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Human Cancer Genetics Program, Ohio State University, Columbus, OH 43210, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21474760" target="_blank"〉PubMed〈/a〉
    Keywords: Cell Line ; Chromosomes, Human, Pair 2/genetics ; Dwarfism/genetics/metabolism ; Female ; Fetal Growth Retardation/genetics/metabolism ; Humans ; Introns ; Inverted Repeat Sequences ; Male ; Microcephaly/genetics/metabolism ; *Mutation ; Nucleic Acid Conformation ; Osteochondrodysplasias/genetics/metabolism ; Pedigree ; *RNA Splicing ; RNA, Small Nuclear/chemistry/*genetics/metabolism ; Spliceosomes/*genetics/metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns (1996)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1996-03-22
    Description: A conserved sequence element in a minor class of eukaryotic pre-messenger RNA (pre-mRNA) introns was previously proposed to base pair with a complementary sequence in the U12 small nuclear RNA (snRNA) in a manner analogous to the pairing of US snRNA with the branch site sequence of the major class of introns. Here, mutations generated in this conserved sequence element block the splicing of a member of this minor intron class in vivo. The block was relieved by coexpression of a U12 snRNA containing compensatory mutations that restore the proposed base pairing interaction. These results show that this minor class of pre-mRNA introns is a distinct class existing alongside the major class of introns in animal genomes, and these results also establish an in vivo function for U12 snRNA.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hall, S L -- Padgett, R A -- R01 GM45371/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1996 Mar 22;271(5256):1716-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Molecular Biology, Cleveland Clinic Foundation, OH 44195, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8596930" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Base Composition ; Base Sequence ; CHO Cells ; Conserved Sequence ; Cricetinae ; Genetic Vectors ; Humans ; *Introns ; Molecular Sequence Data ; Mutation ; Nucleic Acid Conformation ; RNA Precursors/*genetics/metabolism ; *RNA Splicing ; RNA, Small Nuclear/*genetics/metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
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    The stereochemical course of group II intron self-splicing (1994)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1994-12-09
    Description: The stereochemical specificities and reaction courses for both self-splicing steps of a group II intron have been determined by phosphorothioate substitution at the 5' and 3' splice site phosphodiester bonds. Both steps of the splicing reaction proceeded with a phosphorothioate in the Sp configuration but were blocked by the Rp diastereomer. Both steps also proceeded with inversion of stereochemical configuration around phosphorus, consistent with a concerted transesterification reaction. These results are identical to those found for nuclear precursor mRNA (pre-mRNA) splicing and provide support for the hypothesis that group II introns and nuclear pre-mRNA introns share a common evolutionary history.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Padgett, R A -- Podar, M -- Boulanger, S C -- Perlman, P S -- GM31480/GM/NIGMS NIH HHS/ -- GM45371/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1994 Dec 9;266(5191):1685-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry, University of Texas Southwestern Medical Center at Dallas 75235.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7527587" target="_blank"〉PubMed〈/a〉
    Keywords: Base Sequence ; Exons ; *Introns ; Molecular Sequence Data ; *Nucleic Acid Conformation ; Oligoribonucleotides/chemistry ; Oxygen/chemistry ; Phosphorus/chemistry ; RNA/*chemistry/genetics ; *RNA Splicing ; Sulfur/chemistry ; Thionucleotides/chemistry
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    Lariat RNA's as intermediates and products in the splicing of messenger RNA precursors (1984)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1984-08-31
    Description: The splicing of messenger RNA precursors in vitro proceeds through an intermediate that has the 5' end of the intervening sequence joined to a site near the 3' splice site. This lariat structure, which has been characterized for an adenovirus 2 major late transcript, has a branch point, with 2'-5' and 3'-5' phosphodiester bonds emanating from a single adenosine residue. The excised intervening sequence retains the branch site and terminates in a guanosine residue with a 3' hydroxyl group. The phosphate group at the splice junction between the two exons originates from the 3' splice site at the precursor.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Padgett, R A -- Konarska, M M -- Grabowski, P J -- Hardy, S F -- Sharp, P A -- P01-CA14051/CA/NCI NIH HHS/ -- P01-CA26717/CA/NCI NIH HHS/ -- R01-GM32467/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1984 Aug 31;225(4665):898-903.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6206566" target="_blank"〉PubMed〈/a〉
    Keywords: Adenoviruses, Human/metabolism ; Base Sequence ; Chemical Phenomena ; Chemistry ; Nucleic Acid Conformation ; Nucleic Acid Precursors/analysis/*metabolism ; Oligoribonucleotides/metabolism ; Phosphates/metabolism ; RNA/analysis/*metabolism ; RNA Precursors ; *RNA Splicing ; RNA, Messenger/analysis/*metabolism ; RNA, Viral/analysis/*metabolism
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
    Electronic Resource
    Electronic Resource
    Preparation and grain boundary chemistry of dense polycrystalline YBa2Cu4O∼8 (1991)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 69 (1991), S. 2426-2430 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Dense polycrystalline samples of the compound YBa2Cu4O∼8, Y124, were prepared by a three-step procedure. In the first step a mixture of Y2O3, CuO and BaO2 was reacted at 960 °C under an oxygen pressure of 55 bar. The compound did not sinter under these conditions but electrical resistivity and susceptibility measurements showed that the oxide mixture converted to Y124. In the second step densification was produced by hot isostatic pressing at 875 °C. This degraded the superconducting properties severely and a final high-temperature anneal in pressurized oxygen was required to restore optimum properties. This anneal consisted of a one hour hold at 1010 °C in 40-bar O2 followed by a 24-h anneal at 950 °C in 55-bar O2. After this treatment the samples were ∼90% dense, phase pure Y124. The maximum grain dimensions were about 10 μm, and Auger spectroscopy data were obtained on a fracture surface. These data showed that the grain boundary composition does not differ significantly from the bulk values.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.348677
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  • 6
    Electronic Resource
    Electronic Resource
    Grain-boundary compositions in YBa2Cu3O7−x from Auger electron spectroscopy of fracture surfaces (1988)
    [S.l.] : American Institute of Physics (AIP)
    Journal of Applied Physics 64 (1988), S. 331-335 
    Details
    ISSN: 1089-7550
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Comparison of Auger electron spectra obtained from intergranular and transgranular areas exposed on fracture surfaces of sintered YBa2Cu3O7−x specimens indicates that most grain-boundary surfaces are deficient in oxygen and rich in copper compared to the bulk. The thickness of this region of altered composition is estimated to be in the range of 15–50 A(ring). No evidence of segregation of impurities to grain boundaries was seen. The results suggest that the grain-boundary layer is nonsuperconducting and a likely contributor to the problem of low critical current densities in these materials. It is believed that carbon at grain boundaries which has been reported results from incomplete calcination in material which is slightly off stoichiometry.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.341432
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  • 7
    Electronic Resource
    Electronic Resource
    Changes in fracture surface composition and morphology with time in vacuum in YBa2Cu3O7−x (1988)
    Woodbury, NY : American Institute of Physics (AIP)
    Applied Physics Letters 52 (1988), S. 1266-1267 
    Details
    ISSN: 1077-3118
    Source: AIP Digital Archive
    Topics: Physics
    Notes: Changes in fracture surface composition and morphology with time after fracture in a high vacuum environment are observed in the high transition temperature oxide superconductor YBa2 Cu3 O7−x . Morphological changes involving several grains and extending over distances of tens of microns are seen. Changes in fracture surface morphology are, at least in some cases, preceded by changes in surface composition as determined from Auger electron spectroscopy, and can occur at room temperature in the absence of electron beam excitation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1063/1.99677
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  • 8
    Electronic Resource
    Electronic Resource
    Splicing of Messenger RNA Precursors (1986)
    Palo Alto, Calif. : Annual Reviews
    Annual Review of Biochemistry 55 (1986), S. 1119-1150 
    Details
    ISSN: 0066-4154
    Source: Annual Reviews Electronic Back Volume Collection 1932-2001ff
    Topics: Chemistry and Pharmacology , Biology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1146/annurev.bi.55.070186.005351
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  • 9
    Electronic Resource
    Electronic Resource
    Sulfidation behavior of Fe-25Cr-20Ni-1.5Al2O3 in simulated coal combustion/gasification environments (1991)
    Springer
    Oxidation of metals 36 (1991), S. 195-219 
    Details
    ISSN: 1573-4889
    Keywords: sulfidation ; Fe-25Cr-20Ni-1.5Al2O3 ; oxide dispersion-strengthened alloy ; mixed gas corrosion ; coal combustion/gasification
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: Abstract The effect of minor addition of α-Al2O3 dispersoids on the sulfidation behavior of Fe-25Cr-20Ni was investigated over a range of pO2, 1.13×10−20 to 1.18×10 ****−22 atm. at constant pS2=1.22×10−8 atm. Fe-25Cr-20Ni and Fe-25Cr-20Ni 1.5 Al2O3 with and without preformed oxide scales were exposed to bioxidant gas mixtures H2/H2O/H2S/Ar at 700° C. Both isothermal and cyclic exposures were included. Scales were characterized by a combination of several surface analytical tools. A remarkable improvement in sulfidation resistance is observed in Fe-25Cr-20Ni-1.5Al2O3 under the conditions investigated here. This is attributed to the ability of the alloy to form and maintain a predominantly Cr2O3 scale with reduced Fe-diffusion and content. Possible scientific reasons for such improvement are discussed. The base alloy, Fe-25Cr-20Ni, fails to develop and retain such a Cr2O3 scale and undergoes sulfidation within a few minutes of exposure. The scale breakdown process by sulfidation is explained qualitatively. Experimental evidence suggests that sulfur in the environment enhances Fe-diffusion and content in the scale.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00662962
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  • 10
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    U4 small nuclear RNA can function in both the major and minor spliceosomes (2003)
    National Academy of Sciences
    Details
    Publication Date: 2003-12-22
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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