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  • 1
    Electronic Resource
    Electronic Resource
    Die X-chromosomal rezessive spinobulbäre Muskelatrophie (Typ Kennedy) Beschreibung einer Familie, Klinik, molekulare Genetik, Differentialdiagnose und Therapie (1998)
    Springer
    Der Nervenarzt 69 (1998), S. 660-665 
    Details
    ISSN: 1433-0407
    Keywords: Schlüsselwörter Kennedy-Syndrom ; Spinobulbäre Muskelatrophie (SBMA) ; Dynamische Mutationen ; Androgenrezeptor ; Trinukleotidrepeat ; Key words Kennedy-Syndrome ; Spinobulbar muscular atrophy (SBMA) ; Dynamic mutations ; Androgen receptor ; Trinucleotide repeat expansion
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary The Kennedy-Syndrome is a X-linked recessive bulbospinal muscular atrophy, in some cases associated with endocrinological disturbances such as androgen resistance and diabetes mellitus. The age of onset is usually between 20 and 40. Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal. It is important to distinguish the Kennedy-Syndrome from amyotrophic lateral sclerosis, spinal muscular atrophy, muscular dystrophies and other types of motor neuron disease. Kennedy disease is caused by an expanded trinucleotide repeat in the androgen receptor gene. Genetic analysis allows a precise diagnosis on an individual basis and reliable genetic counselling. An effective medical treatment does not yet exist.
    Notes: Zusammenfassung Das Kennedy-Syndrom ist eine X-chromosomal rezessiv vererbte bulbospinale Muskelatrophie, die in einigen Fällen mit endokrinologischen Störungen, wie einer partiellen Androgenresistenz und einem Diabetes mellitus einhergeht. Die Erkrankung manifestiert sich in der Regel zwischen dem 20. und 40. Lebensjahr. Initiale Symptome sind schlaffe proximale Paresen, Faszikulationen, Muskelkrämpfe oder Tremor. Die Progredienz der Krankheit ist meist langsam und die Lebenserwartung normal. Deshalb ist es wichtig, das Kennedy-Syndrom von der amyotrophen Lateralsklerose (ALS), spinalen Muskelatrophien (SMA), Muskeldystrophien und anderen Formen von Motorneuronerkrankungen abzugrenzen. Das Kennedy-Syndrom wird durch eine Trinukleotidexpansion im Gen des Androgenrezeptors verursacht. Heute erlaubt die genetische Diagnostik im Individualfall eine zuverlässige Diagnose und genetische Beratung. Eine effektive Behandlung existiert bisher noch nicht.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001150050325
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  • 2
    Electronic Resource
    Electronic Resource
    Low levels of genetic variation inPhenakospermum guyannense (Strelitziaceae), a widespread bat-pollinated Amazonian herb (1996)
    Springer
    Plant systematics and evolution 199 (1996), S. 1-15 
    Details
    ISSN: 1615-6110
    Keywords: Strelitziaceae ; Phenakospermum ; Isozyme electrophoresis ; RAPD ; genetic variation ; pollination
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract Phenakospermum guyannense is a monotypic, arborescent, long-lived monocot that is widespread in Amazonian South America. This outcrossing species is pollinated primarily by phyllostomid bats. Given these life-history characteristics,P. guyannense is expected to exhibit high levels of genetic variation and gene flow. We used isozyme electrophoresis and randomly amplified polymorphic DNA (RAPD) to characterize genetic variation in populations ofP. guyannense from French Guiana. Both measures detected a surprisingly low level of genetic variation, with only five out of twenty (25%) allozyme loci polymorphic (P), 1.35 alleles per locus (A), and an expected heterozygosity (He) of 0.090 at the species level. Isozymic genetic variation was even lower within populations (P = 17.5, A = 1.24, He = 0.074), and was corroborated by a RAPD assay that used 26 arbitrary primers (P = 3.61, A = 1.04, He = 0.014). Although overall levels of variation were low, the detectable variation was distributed as would be expected for an outcrossing species with extensive gene flow (mean GST = 0.230). We suspect thatP. guyannense is depauperate in genetic variation because of a series of bottlenecks that affected the species over this portion of its range.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00985914
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  • 3
    Electronic Resource
    Electronic Resource
    Immunostaining and interphase arrangement of field bean kinetochores (1995)
    Springer
    Chromosome research 3 (1995), S. 27-31 
    Details
    ISSN: 1573-6849
    Keywords: CREST sera ; interphase kinetochore association ; kinetochore ; nuclear proteins ; Vicia faba
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract More than 100 sera from patients with scleroderma CREST (calcinosis, Raynaud phenomenon, esophageal dismotility, sclerodactyly, telangiectasia) were tested in order to detect antigenic nuclear components of the field beanVicia faba (2n=12). Kinetochores of mitotic chromosomes and prekinetochores of interphase cells from root-tip meristems were specifically labelled via an indirect immunofluorescence procedure by antibodies of one of these sera. In 44% of interphase nuclei in which centromeres could be identified, only half (6) of the number of expected prekinetochores (12) was detected, circumstantially indicating at least transient association of homologous centromeres. Some nuclei showed clustering of centromeres at one pole (Rabl configuration). In metaphase chromosomes, each sister kinetochore contained a fluorescent spot. Western blotting of field bean nuclear proteins revealed four antigenic proteins of 28, 30, 64 and 68 kDa.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00711158
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  • 4
    Electronic Resource
    Electronic Resource
    Honeyeater (Meliphagidae) pollination and the floral biology of PolynesianHeliconia (Heliconiaceae) (1999)
    Springer
    Plant systematics and evolution 216 (1999), S. 1-21 
    Details
    ISSN: 1615-6110
    Keywords: Heliconia ; Foulehaio ; Honeyeaters ; pollination ; plant reproductive biology ; nectar ; breeding systems ; Samoa ; Fiji
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The primary pollinator of Polynesian heliconias,Heliconia laufao andH. paka, is the Wattled Honeyeater,Foulehaio carunculata. This report is the first documentation of pollination by honeyeaters in the genusHeliconia and the first record ofF. carunculata as a pollinator of a plant species. The Polynesian heliconias bear inflorescences that produce 2–4 hermaphroditic flowers per day for a period of 2–3 months. Each flower secretes abundant nectar (125–184 εl) with low sugar concentration (15–18% sucrose-equivalents, weight per weight basis) which is available at anthesis just before dawn. Ninety percent of flower visits occur between anthesis and mid-morning. The honeyeaters perch on inflorescence bracts, and probing of the flower results in pollen deposition on the head and bill from where pollen is transferred between flowers. No statements on compatibility can be made forHeliconia paka; however,Heliconia laufao appears to be self-compatible. Calculations of energetic values of nectar of the Polynesian heliconias and Daily Energy Expenditures ofF. carunculata suggest that populations ofH. laufao andH. paka serve as rich energy resources for their pollinators.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00985098
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