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  • 1
    Online Resource
    Online Resource
    Aarhus :Aarhus University Press,
    Keywords: Genetics -- History. ; Genetics -- Research. ; Electronic books.
    Description / Table of Contents: Modellen har siden haft en kolossal indvirkning på videnskaben og samfundet.Indlejret i molekylets yndefulde kurver lå nøglen til en helt ny videnskab, molekylærbiologien, der over de efterfølgende 50 år har givet os en forbløffende indsigt i vores arts biologi. Ligeså betydningsfuld har indvirkningen været på lægevidenskaben, fødevareproduktionen og retssystemet. DNA er ikke længere noget, der kun interesserer forskere i laboratorier; det vedkommer os alle.Mennesket. Den genetiske arv giver i et letlæseligt sprog og ved hjælp af pædagogiske illustrationer sin læser redskaberne til at forstå den basale genetiske teori om DNA og det humane genom. Med udgangspunkt i denne teori tager forfatteren læseren på en spændende rejse, der belyser spørgsmålene om menneskets oprindelse, udvikling og sygdom. Bogen slutter med et bud på den fremtidige evolution inden for biologi.Peter K.A. Jensen er ledende overlæge ved Klinisk Genetisk Afdeling på Aarhus Universitetshospital. Han har tidligere udgivet populære bøger om menneskets oprindelse.
    Type of Medium: Online Resource
    Pages: 1 online resource (233 pages)
    Edition: 1st ed.
    ISBN: 9788779349414
    Series Statement: Univers Series
    DDC: 575.109
    Language: Danish
    Note: Omslag -- Forside -- Titelside -- Kolofon -- Indhold -- Forord -- 1. DNA - livets hemmelighed -- Den moderne genetik grundlægges af Mendel -- Tiden før Mendel -- Kromosomerne er bærere af generne -- DNA er arvemassen -- Tiden efter Watson-Crick-modellen -- Rekombinant DNA-teknologi -- DNA-undersøgelse for arvelige sygdomme -- DNA-profilanalyse inden for retsmedicinen -- Molekylær antropologi og fossilt DNA -- 2. Menneskets arvemasse - Det humane genom -- Genomets kemi -- Et individs genom -- Proteiner -- Den genetiske kode -- Genomets struktur -- Genduplikation -- Transposition -- Genfunktion -- Celledelinger - mitose og meiose -- Genetiske markører -- Mitokondrie-DNA og Y-kromosomet -- 3. EvolutIon -- Genotypisk og fænotypisk variation -- Hvordan skabes den genetiske variation? -- 4. Menneskets oprindelse -- Menneskets plads i naturen -- Oprindelse af menneskelinjen -- Australopitheciner -- Menneskets første udvandring fra Afrika -- Oprindelsen af Homo sapiens -- Verden koloniseres -- Mongolske befolkninger og kolonisering af Central- og Østasien -- 5. Menneskehedens mangfoldighed -- Mønstre i fordeling af menneskets genetiske variation -- Racer og etniske grupper -- Hudfarve -- Eksempler på etniske grupper -- 6. Gener, evolution og sygdom -- Kost, livsstil og sygdom -- Evolutionshypotesen og livsstilssygdomme -- Founder-mutationer -- Infektionssygdomme og blodtyper -- CCR5-genet og AIDS -- Hæmoglobin og malaria -- Tay-Sachs sygdom og tuberkulose -- Evnen til at nedbryde mælkesukker -- Overfølsomhed for gluten -- 7. Hvor er vi nu - og i den nære fremtid? -- Udvikler mennesket sig fortsat? -- Manipulation af genomet -- Hvor er vi på vej hen? -- Ordliste -- Supplerende litteratur -- Indeks.
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  • 2
    Electronic Resource
    Electronic Resource
    College Park, Md. : American Institute of Physics (AIP)
    The Journal of Chemical Physics 83 (1985), S. 6457-6466 
    ISSN: 1089-7690
    Source: AIP Digital Archive
    Topics: Physics , Chemistry and Pharmacology
    Notes: We present a general theory of equilibrium polymerization in a binary mixture by applying the n-vector model for magnetism in a weak field. Results are given for the temperature dependence of the order parameters, polymer length, and phase diagrams in the concentration–temperature plane. In addition to phase separations between two monomer phases and between a monomer and a polymer phase, the phase diagrams show the possibility of coexistence between two polymer phases with a critical point. It is shown that our theory becomes identical to the earlier theory for equilibrium copolymerization of Tobolsky and Owen when the molecular field approximation and some additional approximations are used.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited skin disorders characterized by the development of intra-epidermal skin blisters on mild mechanical trauma. The three major clinical subtypes (Weber-Cockayne, Koebner and Dowling-Meara) are all caused by mutations in either the keratin 5 (KRT5) or keratin 14 (KRT14) gene.Previously, we identified three novel KRT14 missense mutations in Danish EBS patients associated with the three different forms of EBS (1). The identified KRT14 mutations represent the full spectrum of the classical EBS subtypes. In the present study we investigated these mutations in a cellular expression system in order to analyse their effects on the keratin cytoskeleton. KRT14 expression vectors were constructed by fusing the nucleotide sequence encoding the FLAG reporter peptide to the 3′ end of the KRT14 cDNA sequences. The expression vectors were transiently transfected into normal human primary keratinocytes (NHK), HaCaT or HeLa cells in order to analyze the ability of the mutant K14 proteins to integrate into the existing endogenous keratin filament network (KFN).No effect on the keratin cytoskeleton was observed upon transfection of NHK with the various K14 constructs neither with nor without a subsequently induced heat-stress. In contrast, all constructs, including wild-type K14, caused collapse of the endogenous KFN in a small fraction of the transfected HeLa and HaCaT cells. However, overexpression of the mutation associated with the most severe form of the disease, EBS Dowling-Meara, resulted in a higher number of transfected HaCaT cells with KFN collapse (P 〈 0.001). Thus, although a background KFN perturbance was observed upon transfection with the wild-type K14 construct, the mutant protein associated with the most severe form of EBS worsened the KFN perturbation significantly compared with the mutant proteins associated with the milder forms of the disease and the normal K14 protein. This shows that the clinical severity of disease-associated mutations identified in patients can be tested using this expression system, although it can not at present be used to discriminate between the milder forms.Assessment of the endogenous K14 protein expression in NHK and HaCaT cells indicated that the higher level of endogenous keratin expression in NHK might make these cells more resistant to perturbation of the keratin cytoskeleton by overexpressed K14 protein than HaCaT cells.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The c-kit-encoded transmembrane tyrosine kinase receptor for stem cell factor (Kit/SCF-R) is required for normal haematopoiesis, melanogenesis and gametogenesis. However, the roles of individual Kit/SCF-R-induced signalling pathways in the control of developmental processes in the intact animal are ...
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 411 (2001), S. 355-365 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] Protein-tyrosine kinases (PTKs) are important regulators of intracellular signal-transduction pathways mediating development and multicellular communication in metazoans. Their activity is normally tightly controlled and regulated. Perturbation of PTK signalling by mutations and other genetic ...
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Publishing Ltd
    FEMS microbiology reviews 29 (2005), S. 0 
    ISSN: 1574-6976
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology
    Notes: Most metabolic reactions are connected through either their utilization of nucleotides or their utilization of nucleotides or their regulation by these metabolites. In this review the biosynthetic pathways for pyrimidine and purine metabolism in lactic acid bacteria are described including the interconversion pathways, the formation of deoxyribonucleotides and the salvage pathways for use of exogenous precursors. The data for the enzymatic and the genetic regulation of these pathways are reviewed, as well as the gene organizations in different lactic acid bacteria. Mutant phenotypes and methods for manipulation of nucleotide pools are also discussed. Our aim is to provide an overview of the physiology and genetics of nucleotide metabolism and its regulation that will facilitate the interpretation of data arising from genetics, metabolomics, proteomics, and transcriptomics in lactic acid bacteria.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Digestive diseases and sciences 34 (1989), S. 1894-1899 
    ISSN: 1573-2568
    Keywords: achalasia ; eosinophils ; eosinophil cationic protein ; cytotoxicity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Smooth-muscle specimens from the lower esophagus of nine patients operated on for esophageal achalasia were examined with routine hematoxylin-eosin staining. This procedure revealed only a few eosinophils in or between the external smooth-muscle layers. Using specific immunohistochemical methods for the detection of the eosinophil cationic protein (ECP), however, varying degrees of eosinophil infiltration and extracellular deposit of ECP were disclosed in the achalasia specimens. The ECP also reacted with the monoclonal antibody, EG2, indicating secretion of the cytotoxic ECP. Few or no eosinophils were seen in the muscularis externa in specimens from six control patients without esophageal disease. In two controls many eosinophils were observed in the muscularis externa. However, no extracellular ECP was detected and very few eosinophils reacted with the monoclonal antibody (EG2), suggesting that these eosinophils were not activated. Depletion or total absence of peptidergic innervation was seen in all achalasia specimens but not in controls. Since the eosinophil cationic protein (ECP), in its activated form, is cytotoxic, we propose a pathogenic role of the eosinophil infiltration in achalasia.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1573-0646
    Keywords: interexperimental variation ; in vitro chemosensitivity ; small cell carcinoma of the lung ; anthracycline analogues
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Medicine
    Notes: Summary An advantage of established tumor cell lines compared to fresh human tumor specimens used in sensitivity assessments is the possibility of repeated experiments. Ultimately a database of sensitivity profiles on a panel of cell lines can be made and the sensitivity to new drugs compared with historical data. A prerequisite of this strategy is a minimal interexperimental variation. The sensitivity of eight human small cell lung cancer cell lines to adriamycin, daunomycin, aclacinomycin A, and mitoxantrone was tested in the clonogenic assay. A covariation in the sensitivity to the drugs emphasized the importance of simultaneous drug testing on the same batch of cells. On one cell line (NCI-N592) the interexperimental variation was further evaluated and a significant correlation was found between preexposure culture conditions, size of S-phase, and sensitivity to adriamycin, daunomycin, and mitoxantrone. Rigorous standardization of the growth conditions prior to clonogenic assay reduced the variation in the sensitivity to adriamycin from a factor of five to only 10–15%. It is concluded that simultaneous experiments on the same batch of cells in drug comparisons should be used if possible. Specification and standardization of culture conditions are necessary in the comparison of drugs tested in different experiments. Inclusion of the same reference drug in all experiments may further increase the validity of comparisons in different experiments.
    Type of Medium: Electronic Resource
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