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  • 1
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Dystrophic epidermolysis bullosa (DEB) is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. The characteristic genetic lesion in dominant DEB (DDEB) is a glycine substitution in the collagenous domain of the protein. In this study, we identified a Chinese family with a four-generation pedigree of DDEB, in whom a novel glycine substitution mutation in COL7A1 was demonstrated. A heterozygous nucleotide G→A transition at position 6208 in exon 74 of COL7A1 was detected, which resulted in a glycine to arginine substitution (G2070R) in the triple-helical domain of type VII collagen. This substitution was not found in 110 unrelated normal alleles. This report emphasizes the predominance of glycine substitution mutations in DDEB and contributes to the expanding database on COL7A1 mutations.
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  • 2
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    German Medical Science; Düsseldorf, Köln
    In:  International Conference on SARS - one year after the (first) outbreak; 20040508-20040511; Lübeck; DOC04sarsP4.04 /20040526/
    Publication Date: 2004-05-26
    Keywords: ddc: 610
    Language: English
    Type: conferenceObject
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  • 3
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    German Medical Science; Düsseldorf, Köln
    In:  International Conference on SARS - one year after the (first) outbreak; 20040508-20040511; Lübeck; DOC04sarsP4.03 /20040526/
    Publication Date: 2004-05-26
    Keywords: ddc: 610
    Language: English
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. In order to detect aneuploidy in interphase human lymphocytes, both in vivo and in vitro, fluorescence in situ hybridization (FISH) was carried out on binucleated cells cytokinesis-blocked by cytochalasin B at the first mitosis after phytohemagglutinin stimulation. A pericentric chromosome-21-specific DNA probe prepared from yeast artificial chromosome clone 881D2 by the polymerase chain reaction was employed. One thousand binucleated cells per individual were scored from cultures from twelve trisomy 21 patients aged 0.01–8.9 years (mean 4.3 years) and 20 normal children of similar age. Of trisomy 21 patients, increased frequencies of disomic cells in vivo (1.690±1.070%) and cells containing six signals with nondisjunction (0.822±0.554%) were found, compared with those of monosomic 21 cells in vivo (0.265±0.130%) and cells containing four signals with nondisjunction in normal children (0.369±0.250%; P=0.000 and P=0.000, respectively). These results show that malsegregation of chromosome 21 occurs more often in trisomic 21 cells than in disomic cells from normal children. The frequency of nondisjunction was significantly higher than the loss of chromosome 21 in both cultured trisomic (0.822±0.554% vs 0.043±0.049%, P=0.000) and disomic (0.369±0.250% vs 0.010±0.030%, P=0.000) cells. Comparisons of in vivo and in vitro data on aneuploidy indicate that a cell selection mechanism may exist in vivo. All these results show that FISH, with a chromosome-specific probe, on binucleated lymphocytes is a powerful tool for simultaneously detecting mosaic cell lines in vivo and malsegregation (loss and nondisjunction) of a corresponding chromosome in vitro in the same cell population.
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  • 5
    ISSN: 1433-0385
    Keywords: Schlüsselwörter: Tissue Engineering ; Mesenchymale Stammzellen ; Knochen ; Knorpel. ; Keywords: Tissue engineering ; Mesenchymal stem cells ; Bone ; Cartilage.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract. Tissue engineering offers the possibility to fabricate living substitutes for tissues and organs by combining histogenic cells and biocompatible carrier materials. Pluripotent mesenchymal stem cells are isolated and subcultured ex vivo and then their histogenic differentiation is induced by external factors. The fabrication of bone and cartilage constructs, their combinations and gene therapeutic approaches are demonstrated. Advantages and disadvantages of these methods are described by in vitro and in vitro testing. The proof of histotypical function after implantation in vivo is essential. The use of autologous cells and tissue engineering methods offers the possibility to overcome the disadvantages of classical tissue reconstruction – donor site morbidity of autologous grafts, immunogenicity of allogenic grafts and loosening of alloplastic implants. Furthermore, tissue engineering widens the spectrum of surgical indications in bone and cartilage reconstruction.
    Notes: Zusammenfassung. Tissue engineering ermöglicht die Herstellung lebender Konstrukte zum Gewebeersatz durch die Kombination histogener Zellen und biokompatiblen Trägermaterialien. Pluripotente mesenchymale Stammzellen können isoliert, ex vivo vermehrt und ihre gewebetypische Differenzierung durch Faktoren induziert werden. Es wird die Herstellung von Knochen- und Knorpelkonstrukten, deren Kombination sowie gentherapeutische Ansätze dargestellt. Vor- und Nachteile der Methoden werden durch in vitro und in vivo Testung beschrieben. Essentiell ist der Nachweis der gewebetypischen Funktion der Konstrukte nach Implantation in den Defekt. Die Verwendung autogener Zellen und Methoden des Tissue engineerings bietet die Möglichkeit die Probleme des klassischen Gewebeersatzes – Morbidität der autogenen Spenderstelle, Immunogenität des allogenen Transplantats und Lockerung von alloplastischen Implantaten – zu überwinden und erweitert das Indikationsspektrum in der rekonstruktiven Chirurgie.
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Applied mathematics & optimization 41 (2000), S. 155-170 
    ISSN: 1432-0606
    Keywords: Key words. Maxwell's equations, Exact internal controllability, Multiplier technique, Changing controller. AMS Classification. 93B05, 35L05.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mathematics
    Notes: Abstract. In this paper we obtain two exact internal controllability results of Maxwell's equations in a general region by using multiplier techniques. The first one is exact controllability in a short time, in which we obtain the ``optimal" (observability) estimates when the location and the shape of the controller is fixed. What happens if we allow the controller to change? Under some conditions, we show that by doing that the system can be exactly controllable within any given time duration, which is our second exact controllability result.
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  • 7
    ISSN: 1432-0614
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Abstract A chitosanase was purified from the culture fluid of the chitino- and chitosanolytic bacterium Burkholderia gladioli strain CHB101. The purified enzyme (chitosanase A) had a molecular mass of 28 kDa, and catalyzed the endo-type cleavage of chitosans having a low degree of acetylation (0–30%). The enzyme hydrolyzed glucosamine oligomers larger than a pentamer, but did not exhibit any activity toward N-acetyl-glucosamine oligomers and colloidal chitin. The gene coding for chitosanase A (csnA) was isolated and its nucleotide sequence determined. B. gladioli csnA has an ORF encoding a polypeptide of 355 amino acid residues. Analysis of the N-terminal amino acid sequence of the purified chitosanase A and comparison with that deduced from the csnA ORF suggests post-translational processing of a putative signal peptide and a possible substrate-binding domain. The deduced amino acid sequence corresponding to the mature protein showed 80% similarity to the sequences reported from Bacillus circulans strain MH-K1 and Bacillus ehimensis strain EAG1, which belong to family 46 glycosyl hydrolases.
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  • 8
    ISSN: 1432-0630
    Keywords: PACS: 61.48.+c; 31.15. Ew
    Source: Springer Online Journal Archives 1860-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics , Physics
    Notes: Abstract. Relativistic discrete-variational local density functional calculations on endohedral Gd@C60, La@C60,Gd@C74, and La@C74 are performed. All the C60- and C74-derivedlevels are lowered upon endohedral Gd and La doping. Both the Gd (4f75d16s2) and La (5d16s2) atoms only donate their two 6s valence electrons to the cages, leaving behind their 5d electrons when they are placed at the cage centers. Compared with large-band-gap C60, small-band-gap C74 and Gd (La)-metallofullerenes have strong both electron-donating and electron-accepting characters, and the calculated ionization potentials and electron affinities for them agree well with the available experimental data.
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  • 9
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Journal of fish diseases 23 (2000), S. 0 
    ISSN: 1365-2761
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: Out of 19 Vibrio harveyi isolates obtained from a diversity of hosts and geographical locations, 14 were pathogenic to rainbow trout, Oncorhynchus mykiss (Walbaum), and Atlantic salmon, Salmo salar L., with mortalities of up to 100% following intraperitoneal injections of 106 cells fish−1. The extracellular products (ECPs) of only five pathogenic isolates were harmful to fish. Both pathogenic and non-pathogenic cultures produced ECPs containing caseinase, gelatinase, phospholipase, lipase and haemolysins. Vibrio harveyi VIB 645, which was the most pathogenic isolate, produced ECPs with a maximal effect on salmonids from preparations obtained by using cellophane overlays on tryptone soya agar supplemented with 1% (w/v) sodium chloride with incubation at 28 °C for 24 h. This preparation contained the highest titre of haemolytic activity to Atlantic salmon (1:256) and rainbow trout (1:32) erythrocytes.
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  • 10
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background  Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant inherited skin disorder characterized by diffuse yellow thickening of the skin of the palms and soles, sharply bordered with erythematous margins. Histologically and ultrastructurally, EPPK presents cytolysis of keratinocytes and abnormal aggregation of tonofilaments in the suprabasal layers of the epidermis. To date, 15 different mutations of the keratin 9 gene (KRT9) have been demonstrated to cause most cases of EPPK.Objectives  To identify the KRT9 mutation in a large Chinese family with EPPK.Methods  Denaturing high-performance liquid chromatography (DHPLC), DNA sequencing and allele-specific polymerase chain reaction (AS-PCR) were used to screen exon 1 of the KRT9 gene for sequence variations.Results  The DHPLC elution profiles of the DNA fragments amplified from the affected samples differed from those obtained from unaffected individuals, indicating that a sequence variation existed within the analysed fragment of KRT9. DNA sequencing revealed a novel insertion–deletion mutation in the exon 1 of KRT9, 497delAinsGGCT, resulting in the change of tyrosine166 to tryptophan and leucine (Y166delinsWL). AS-PCR confirmed the mutation was not a common polymorphism.Conclusions  The results suggest the molecular basis of EPPK in this Chinese family and provide further evidence that mutations in the helix initiation motif of keratin 9 underlie Chinese EPPK.
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