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  • 1
    Electronic Resource
    Electronic Resource
    A balanced 13/18 translocation [46,XY,t(13q-; 18q+)] in the father of an infant with multiple anomalies (1971)
    Springer
    Human genetics 〈Berlin〉 12 (1971), S. 316-322 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A 28-year-old man, whose infant son died of multiple malformations, was shown to have a balanced 13q-/18q+ translocation. He was phenotypically and mentally normal. Studies of the pedigree revealed the presence of bilateral microtia on the side of the spouse of the proband, transmitted in a dominant mode through four generations. Occasional cells from the proband and his mother exhibited an elongated long arm of a chromosome 16.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00278051
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  • 2
    Electronic Resource
    Electronic Resource
    Selective advantage of fra (X) heterozygotes (1990)
    Springer
    Human genetics 〈Berlin〉 86 (1990), S. 25-32 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The high incidence of the fra (X) syndrome (about 1∶2000 male newborns) requires an explanation in view of the low fitness of mentally retarded hemizygous males and heterozygous females. In the past, it has been proposed that the mutation rate may be unusually high, and that mutations occur exclusively in male germ cells. According to an alternative hypothesis, a moderately high mutation rate might combine with a selective advantage of clinically unaffected heterozygotes. In earlier studies, such a combined hypothesis was shown to lead to plausible implications regarding mutation rate and fitness. Moreover, a mutation rate in male germ cells of the magnitude required by the exclusive mutation hypothesis was excluded by studies on comprehensive pedigree data. In this third study in the series, an increased fitness of heterozygous females is demonstrated directly by a comparison of the reproductive performance of heterozygotes with that of adequate controls (mothers and grandparents of Down's syndrome patients). Since average numbers of children have decreased during recent decades in populations of industrialized countries, heterozygotes (mothers of affected probands and their female relatives in their own generation) were subdivided into those born before and after 1940. Moreover, sibship sizes of probands' mothers and fathers were analyzed separately for family branches in which the fra (X) trait segregated (mostly the maternal branch), or did not segregate (in most instances the paternal branch). In all four categories reproductive performance in heterozygotes was found to be higher than in the controls. This difference was significant statistically for two of the four groups: it was small and nonsignificant only for the parental family branch in which the fra (X) mutant did not segregate and for mothers born after 1940. Fitness estimates ranged between 1.11 and 1.36. A higher incidence of dizygotic twinning suggests a biological component for this increased fertility. On the other hand, fra (X) families have a significantly lower social status than the controls. This suggests a socio-psychological component of their higher fertility. Apparently, both components contribute to their fertility: at present, their relative importance cannot be assessed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00205167
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  • 3
    Electronic Resource
    Electronic Resource
    Spin label and 2H-NMR studies on the interaction of melanotropic peptides with lipid bilayers (1996)
    Springer
    European biophysics journal 24 (1996), S. 251-259 
    Details
    ISSN: 1432-1017
    Keywords: Melanotropic peptide ; Peptide-lipid interaction ; Spin label ; 2H-NMR
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Physics
    Notes: Abstract The interaction of the cationic tridecapeptide α-melanocyte stimulating hormone (α-MSH) and the biologically more active analog [Nle4, DPhe7]-α-MSH with lipid membranes was investigated by means of ESR of spin probes incorporated in the bilayer, and NMR of deuterated lipids. All spin labels used here, stearic acid and phospholipid derivatives labeled at the 5th and 12th position of the hydrocarbon chain, and the cholestane label, incorporated into anionic vesicles of DMPG (1,2-dimyristoyl-sn-glycero-3-phosphoglycerol) in the liquid-crystalline phase, indicated that both peptides decrease the motional freedom of the acyl chains. No peptide effect was detected with neutral lipid bilayers. Changes in the α-deuteron quadrupolar splittings and spin lattice relaxation time of DMPG deuterated at the glycerol headgroup paralleled the results obtained with ESR, showing that the peptides cause a better packing both at the headgroup and at the acyl chain bilayer regions. The stronger effect caused by the more potent analog in the membrane structure, when compared to the native hormone, is discussed in terms of its larger lipid association constant and/or its deeper penetration into the bilayer.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00205106
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  • 4
    Electronic Resource
    Electronic Resource
    Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome (1984)
    Springer
    Human genetics 〈Berlin〉 67 (1984), S. 115-119 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X. This patient is one of seven reported cases of an X-linked muscular dystrophy associated with an X-autosome translocation. In all seven cases the exchange point in the X chromosome is in band p21 at or near the site of the Duchenne gene.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00270570
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  • 5
    Electronic Resource
    Electronic Resource
    Die Untersuchung der Verbandmittel (1891)
    Springer
    Fresenius' Zeitschrift für analytische Chemie 30 (1891), S. 92-98 
    Details
    ISSN: 1618-2650
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01591975
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  • 6
    Electronic Resource
    Electronic Resource
    Restriction and modification in Bacillus subtilis: Identification of a gene in the temperate phage SPβ coding for a BsuR specific modification methyltransferase (1980)
    Springer
    Molecular genetics and genomics 180 (1980), S. 361-367 
    Details
    ISSN: 1617-4623
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Summary A gene coding for a modifying DNA-methyltransferase which methylates the central C in the BsuR recognition sequence 5′GGCC was identified in the genome of the temperate Bacillus subtilis phage SPβ. This gene is expressed only after induction of the prophage by either mitomycin C or UV. The presence of active methyltransferase in induced cells leads to modification of BsuR recognition sites in SPβ DNA as well as in heterologous DNA.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00425849
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  • 7
    Electronic Resource
    Electronic Resource
    New method for bench-scale tests of diesel oils (1971)
    Springer
    Chemistry and technology of fuels and oils 7 (1971), S. 382-385 
    Details
    ISSN: 1573-8310
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Process Engineering, Biotechnology, Nutrition Technology
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00714531
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  • 8
    Electronic Resource
    Electronic Resource
    Effect of estradiol treatment on male mice synaptonemal complexes: difference of sensitivity between neonates and adults (1993)
    Springer
    Genetica 87 (1993), S. 127-140 
    Details
    ISSN: 1573-6857
    Keywords: mice ; neonatal estrogen exposure ; synaptonemal complex
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology
    Notes: Abstract The effect of estrogen on pachytene spermatocytes was studied with the assistance of the synaptonemal complex analysis under electron microscopy. Male NMRI mice were injected with estradiol benzoate from birth onwards and allotted to different groups according to the dose administered: 1) three injections of either 12.5 μg or 25 μg or 50 μg on d0, d5 and d10; 2) single injections of 50 μg either on d0 or on d5 or on d10; 3) double injections of 50 μg on d0 and d5; and 4) daily injection at the dose of 0.5 μg/g BW from d0 to d27. Animals were sacrificed on day 28, 60 and 90. Adult male mice were treated daily with E2B (0.5 μg/g BW) for one (from d30 to d60) or two months (from d30 up to d90) to test the age-related sensitivity to estrogen. A number of different SC anomalies were observed at each harvest time. Among all the anomalies, pairing failure (asynapsis) was predominant followed in decreasing order of importance by SC breakage (fragmentation of SCs), and heterotelomeric associations resulting either in quadrivalent-like figures or in trivalents. In E2B treated neonates the frequency of SC anomalies, which was less than 2% in controls, varied from 3.6 to 27% of pachytene cells regardless of the harvest time. In E2B treated adult mice, the SC anomalies were rare (〈4%), but significantly different from controls in which the frequency of SC aberrations did not exceed 1% of pachytene cells. The prevalence of anomalies appeared to be independent of the TW decrease. Our observations suggest that estrogens act indirectly on SCs. Different mechanisms of action are discussed.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00240552
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  • 9
    Electronic Resource
    Electronic Resource
    Beeinflussung der rheologischen Eigenschaften von makro- und mikrokristallinen Paraffinen durch Zusatzmittel (1969)
    Springer
    Rheologica acta 8 (1969), S. 254-259 
    Details
    ISSN: 1435-1528
    Source: Springer Online Journal Archives 1860-2000
    Topics: Chemistry and Pharmacology , Physics
    Description / Table of Contents: Summary Based on our results reported above, we can state the following: The rheological properties of all sorts of paraffins are in a high degree dependent on temperature. The temperature functions of the different properties are not in all cases of monotone character. The macro- and microcrystalline paraffins as well as their blends, within the limits of load, temperature, and rate of deformation, behave essentially as viscoelastic systems. Below their freezingpoints, they behave as plastic systems, whereas at still lower temperatures they become ever more brittle. The rheological properties of macrocrystalline paraffins can be favourably influenced by compounding with microcrystalline paraffins or plastics, e. g. polyethylene wax. Our studies concerning the rheology of paraffins are not considered as being definitively terminated, work along this line is being continued.
    Notes: Zusammenfassung Auf Grund unserer mitgeteilten Resultate kann folgendes festgestellt werden: Die Theologischen Eigenschaften sämtlicher Paraffinarten sind in hohem Grade temperaturabhängig. Die Temperaturfunktionen der verschiedenen Eigenschaften zeigen nicht in allen Fällen monotonen Charakter. Die makro- und mikrokristallinen Paraffine sowie deren Gemische verhalten sich innerhalb der vorliegenden Grenzen der Belastung, Temperatur und Deformationsgeschwindigkeit im Grunde genommen als viskoelastische Systeme. Sie verhalten sich unterhalb ihres Stockpunktes als plastische Systeme, dagegen werden sie bei tieferen Temperaturen immer spröder. Die rheologischen Eigenschaften von makrokristallinen Paraffinen können durch Compoundierung mit mikrokristallinen Paraffinen oder Kunststoffen, zum Beispiel mit Polyäthylenwachs vorteilhaft beeinflußt werden. Das Studium auf dem Gebiet der Rheologie von Paraffinen wird nicht als abgeschlossen betrachtet, die Arbeit wird fortgesetzt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01973951
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  • 10
    Electronic Resource
    Electronic Resource
    Multiplexed Readout of Superconducting Bolometers (2000)
    Springer
    International journal of infrared and millimeter waves 21 (2000), S. 1909-1916 
    Details
    ISSN: 1572-9559
    Keywords: bolometers ; SQUIDS ; multiplexing ; transition edge sensors ; far infrared ; submillimeter
    Source: Springer Online Journal Archives 1860-2000
    Topics: Physics
    Notes: Abstract Studies of emission in the far-infrared and submillimeter from astrophysical sources require large arrays of detectors containing hundreds to thousands of elements. A multiplexed readout is necessary for practical implementation of such arrays, and can be developed using SQUIDS, such that, e.g., a 32 × 32 array of bolometers can be read out using ≈100 wires rather than the 〉2000 needed with a brute force expansion of existing arrays. These bolometer arrays are made by micromachining techniques, using superconducting transition edge sensors as the thermistors. We describe the development of this multiplexed superconducting bolometer array architecture as a step toward bringing about the first astronomically useful arrays of this design. This technology will be used in the SAFIRE instrument on SOFIA, and is a candidate for a wide variety of other spectroscopic and photometric instruments.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1006752416612
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