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  • 2010-2014  (6)
  • 2005-2009  (2)
  • 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
    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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  • 3
    Publication Date: 2013-04-17
    Description: Energy & Fuels DOI: 10.1021/ef400620g
    Print ISSN: 0887-0624
    Electronic ISSN: 1520-5029
    Topics: Chemistry and Pharmacology , Energy, Environment Protection, Nuclear Power Engineering , Process Engineering, Biotechnology, Nutrition Technology
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  • 4
    Publication Date: 2012-03-22
    Description: High-quality satellite observations of water and deuterated water in the upper troposphere and lower stratosphere (UTLS) from the Atmospheric Chemistry Experiment Fourier transform spectrometer (ACE-FTS) are used to map global climatological behavior. Spatial and temporal variability in these data suggest that convection plays a significant role in setting water vapor isotopic composition in these regions. In many instances, enhancements in HDO/H2O (i.e., δD) are closely tied to patterns of climatological deep convection and uncorrelated with water vapor, although convection appears to have different isotopic effects in different locations. The ACE-FTS data reveal seasonal variations in the tropics and allow mapping of climatological regional structure. These data reveal strong regional isotopic enhancement associated with the North American summer monsoon but not the Asian monsoon or the western Pacific warm pool. We suggest that the isotopic effects of deep convection near the tropopause are moderated by the ambient relative humidity, which controls the amount of convective ice that evaporates. Local convective signals can in turn affect global behavior: the North America monsoon influence introduces a Northern Hemisphere–Southern Hemisphere asymmetry in water isotopic composition in the lower stratosphere that extends into the tropics and influences the apparent seasonal cycle in averaged tropical UTLS data. Seasonal variation in tropical lower stratospheric water isotopic composition extends up to ∼20 km in ACE retrievals, but in contrast to previous reports, there is no clear evidence of propagation beyond the lowermost stratosphere. The reliability of these observations is supported by the broad consistency of ACE-FTS averaged tropical profiles with previous remote and in situ δD measurements.
    Print ISSN: 0148-0227
    Topics: Geosciences , Physics
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  • 5
    Publication Date: 2012-07-22
    Description: Energy & Fuels DOI: 10.1021/ef300670q
    Print ISSN: 0887-0624
    Electronic ISSN: 1520-5029
    Topics: Chemistry and Pharmacology , Energy, Environment Protection, Nuclear Power Engineering , Process Engineering, Biotechnology, Nutrition Technology
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  • 6
    Publication Date: 2014-06-08
    Description: Energy & Fuels DOI: 10.1021/ef4021262
    Print ISSN: 0887-0624
    Electronic ISSN: 1520-5029
    Topics: Chemistry and Pharmacology , Energy, Environment Protection, Nuclear Power Engineering , Process Engineering, Biotechnology, Nutrition Technology
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  • 7
    Publication Date: 2014-08-05
    Description: Mutations in DNMT3A , the gene encoding DNA methyltransferase 3 alpha, have been identified as molecular drivers in acute myeloid leukaemia (AML) with possible implications for minimal residual disease monitoring and prognosis. To further explore the utility of DNMT3A mutations as biomarkers for AML, we developed assays for sensitive detection of recurrent mutations affecting residue R882. Analysis of DNA from 298 diagnostic AML samples revealed DNMT3A mutations in 45 cases (15%), which coincided with mutations in NPM1 , FLT3 and IDH1 . DNMT3A mutations were stable in 12 of 13 patients presenting with relapse or secondary myelodysplastic syndrome, but were also present in remission samples from 14 patients (at allele frequencies of 〈1–50%) up to 8 years after initial AML diagnosis, despite the loss of all other molecular AML markers. The mutant DNMT3A allele burden was not related to the clinical course of disease. Cell sorting demonstrated the presence of DNMT3A mutations in leukaemic blasts, but also at lower allele frequencies in T and B-cells from the same patients. Our data are consistent with the recent finding of preleukaemic stem cells in AML, which are resistant to chemotherapy. The persistence of DNMT3A mutations during remission may have important implications for the management of AML.
    Print ISSN: 0007-1048
    Electronic ISSN: 1365-2141
    Topics: Medicine
    Published by Wiley-Blackwell
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  • 8
    Publication Date: 2012-12-06
    Description: Background: Despite twinning being common in Africa, few prospective twin studies have been conducted. We studied twinning rate, perinatal mortality and the clinical characteristics of newborn twins in urban Guinea-Bissau. Methods: The study was conducted at the Bandim Health Project (BHP), a health and demographic surveillance site in Bissau, the capital of Guinea-Bissau. The cohort included all newborn twins delivered at the National Hospital Simao Mendes and in the BHP study area during the period September 2009 to August 2011 as well as singleton controls from the BHP study area. Data regarding obstetric history and pregnancy were collected at the hospital. Live children were examined clinically. For a subset of twin pairs zygosity was established by using genetic markers. Results: Out of the 5262 births from mothers included in the BHP study area, 94 were twin births, i.e. a community twinning rate of 18/1000. The monozygotic rate was 3.4/1000. Perinatal mortality among twins vs. singletons was 218/1000 vs. 80/1000 (RR = 2.71, 95% CI: 1.93-3.80). Among the 13783 hospital births 388 were twin births (28/1000). The hospital perinatal twin mortality was 237/1000.Birth weight 〈 2000g (RR = 4.24, CI: 2.39-7.51) and caesarean section (RR = 1.78, CI: 1.06-2.99) were significant risk factors for perinatal twin mortality. Male sex (RR = 1.38, CI: 0.97-1.96), unawareness of twin pregnancy (RR = 1.64, CI: 0.97-2.78) and high blood pressure during pregnancy (RR = 1.77, CI: 0.88-3.57) were borderline non-significant. Sixty-five percent (245/375) of the mothers who delivered at the hospital were unaware of their twin pregnancy. Conclusions: Twins had a very high perinatal mortality, three-fold higher than singletons. A birth weight 〈 2000g was the strongest risk factor for perinatal death, and unrecognized twin pregnancy was common. Urgent interventions are needed to lower perinatal twin mortality in Guinea-Bissau.
    Electronic ISSN: 1471-2393
    Topics: Medicine
    Published by BioMed Central
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