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  • 1
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    InTechOpen | Management of CNS Tumors | Management of CNS Tumors
    Publication Date: 2024-04-04
    Description: Lynch syndrome (LS) (MIM No. 120435-6), previously known as hereditary nonpolyposis colorectal cancer (HNPCC) (Boland, 2005), is an autosomal dominant disorder caused by germline mutation in one of the DNA mismatch repair (MMR) genes. LS is among the most prevalent cancer syndromes in man and is estimated to account for 1-6% of all colorectal cancers (Lynch & de la Chapelle, 2003).
    Keywords: brain tumors ; lynch syndrome ; brain tumors ; lynch syndrome ; Colorectal cancer ; DNA methylation ; DNA mismatch repair ; Gene ; Glioblastoma ; Glioma ; Hereditary nonpolyposis colorectal cancer ; Mutation ; Neoplasm ; thema EDItEUR::P Mathematics and Science::PD Science: general issues
    Language: English
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  • 2
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    Frontiers Media SA
    Publication Date: 2023-12-21
    Description: The vision of this Frontiers in Oncology Research Topic on "Stem Cell Genetic Fidelity" had the goal of steeping a diverse range of research perspectives to a first comprehensive synthesis of thought on the questions of how tissue stem cells manage gene mutation rate and the significance of that management in mammalian evolution and biology, in particular as it relates to tissue cell renewal, carcinogenesis, and aging. The primary focus was determinants of mutation rate in distributed stem cells (DSCs), which encompass all naturally occurring stem cells at all stages of mammalian development. In particular, contributions were sought that considered a broad range of aspects of the immortal DNA strand hypothesis for DSC genetic fidelity. Though proposed in 1975, only in the last decade has this landmark concept in tissue cell biology emerged as a central discussion in DSC research with increasing scrutiny and discussion by an increasing number of laboratories of diverse research perspectives and experimental approaches. With this hypothesis presenting a formidable technical challenge for experimental investigation, as would be expected, both supportive and unsupportive reports have been lining up. In the case of supportive studies, neither the range of applicable tissues nor the responsible molecular mechanisms are known; and the essential genomic process, non-random DNA template strand inheritance by asymmetrically self-renewing DSCs, has been suggested to potentially have other cellular roles besides reducing mutation rate. A major aspiration of this Research Topic was to create the first comprehensive, critical synthesis of current insights and viewpoints on the impact of the immortal DNA strand hypothesis in the history of DSC mutation research. A wide range of article types was considered including historical perspectives, critical reviews, critical commentaries, new hypotheses, new research perspectives, technical advances, and original research reports. Although treatments of the immortal DNA strand hypothesis were the major focus, the desired synthesis required integration of related ideas on mechanisms of DSC mutagenesis and its impact in the evolution of mammals, the emergence of cancers, and stem cell aging. As such, investigators focused on issues in e.g., germ stem cell mutagenesis, effects of environmental mutagens on DSC mutation rate, DSC mutation and tissue aging, determinations of types of mutations in DSCs, and the role of DSC mutation in cancer initiation were invited. Similarly, although the specific goal of the Research Topic was to enlighten DSC genetic fidelity in humans and other mammalians, informing contributions based on studies in other model organisms were also welcomed. To achieve even better representation of current experience, advances, and ideas in this field of investigation, these early contributors were encouraged to extend the opportunity to others who shared their interest in advancing our understanding of the mutability of DSCs and its significance in human biology.
    Keywords: R5-920 ; QH426-470 ; RC254-282 ; Q1-390 ; metakaryotic ; tissue stem cell ; immortal strand ; non-random segregation ; colon crypt ; hematopoietic stem cell ; DNA Replication ; Mutation ; cancer stem cells ; SSIS ; bic Book Industry Communication::M Medicine
    Language: English
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  • 3
    Publication Date: 2021-05-19
    Description: Thermostable chitinases are useful for industrial and biotechnological applications. This paper reports the stabilization of chitinase from Serratia marcescens B4A through rational mutagenesis. Changing of Ser 390 to Ile in S. marcescens. The stabilization was enhanced through entropic stabilization by reduction of the loop length and also by increasing of the beta chain length. With this replacement, polar uncharged residue changed to non-polar one and increased the hydrophobic interactions. Furthermore Isoleucine has branched β-carbon that restricts the backbone conformation more than non-branched residues. Finally all of these factors lead to entropic stabilization and thermal stabilization. The results exhibited that the optimal temperature and pH for enzyme activity of native chitinase were not changed by mutagenesis which showed that mutation didn’t affect the original characteristics of the enzyme, the Km values of native and mutant chitinase were different very little, showing that the affinity of enzyme towards the substrate and also the natural flexibility of chitinase did not change by mutation. Besides the Vmax value of the mutant chitinase was decreased, while its pH stability was increased briefly, but its thermal stability was increased remarkably. Mutation made chitinase to tolerate high temperatures up to 90°C. In addition its activity was increased at 50°C, 60°C for 120 min and up to 2 hours of incubation period and the mutant chitinase demonstrated a high level of activity at 60°C. These results show that entropic stabilization works well for chitinase and this approach may be generally applicable for stabilization of other proteins.
    Description: Published
    Keywords: Thermostable chitinases ; Biotechnology ; Mutation ; Enzymes ; Chitinase ; Thermal stability
    Repository Name: AquaDocs
    Type: Journal Contribution , Refereed
    Format: pp.1046-1059
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  • 4
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Journal of Photochemistry and Photobiology B: Biology 20 (1993), S. 145-152 
    ISSN: 1011-1344
    Keywords: Lac Z ; Mutation ; Photosensitization ; Psoralen
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biosystems 19 (1986), S. 91-100 
    ISSN: 0303-2647
    Keywords: Evolution ; Mutation ; Prebiological networks ; Selection
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Lipids and Lipid Metabolism 1123 (1992), S. 1-17 
    ISSN: 0005-2760
    Keywords: Amino acid sequence ; Hyperlipoproteinemia ; Kinetics ; Lipoprotein lipase ; Mutation ; cDNA sequence
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Biomembranes 1193 (1994), S. 165-178 
    ISSN: 0005-2736
    Keywords: Calcium pump ; Cotransport ; Lactose permease ; Mutation ; Transport kinetics ; Uncoupled transport
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 8
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Biomembranes 1192 (1994), S. 263-271 
    ISSN: 0005-2736
    Keywords: (Arabidopsis) ; Chloroplast ultrastructure ; Fatty acid desaturation ; Membrane structure ; Mutation ; Photosynthetic membrane ; Polyunsaturated lipid
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 0167-4781
    Keywords: Gene amplification ; HPLC ; Mutation ; Synthetic oligonucleotide
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Amsterdam : Elsevier
    Biochimica et Biophysica Acta (BBA)/Gene Structure and Expression 1216 (1993), S. 504-508 
    ISSN: 0167-4781
    Keywords: Allele-specific amplification ; Autoimmunity ; Genetics ; Graves' disease ; Mutation ; Thyrotropin receptor
    Source: Elsevier Journal Backfiles on ScienceDirect 1907 - 2002
    Topics: Biology , Chemistry and Pharmacology , Medicine , Physics
    Type of Medium: Electronic Resource
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