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  • 1
    Electronic Resource
    Electronic Resource
    s.l. : American Chemical Society
    Macromolecules 28 (1995), S. 5306-5311 
    ISSN: 1520-5835
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1440
    Keywords: Abbreviations ALL Acute lymphoblastic leukemia ; BMT Bone marrow transplantation ; CTL Cytotoxic T-lymphocytes ; IL Interleukin ; MHC Major histocompatibility ; MRD Minimal residual diseaseIntroductionObjective ; The purpose of this protocol is to induce a specific cellular immune reaction after autologous bone marrow transplantation (BMT) by vaccination with human leukocyte antigen (HLA) B13 transfected autologous leukemic cells in children with high-risk relapse of acute lymphoblastic leukemia (ALL). Specific cytotoxic T-lymphocytes (CTL) will be expanded in vivo by low-dose interleukin-2 (IL-2). The expression vector used is the pcDNA3 HLA-B13 plasmid ; driven by a cytomegalovirus promoter. Leukemic cells are transfected by electroporation/ballistomagnetic transfer.
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1364-6753
    Keywords: Key words GABABR1 gene ; Genomic organization ; Idiopathic generalized epilepsy ; Juvenile myoclonic epilepsy ; Mapping
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Neurophysiological and pharmacological studies suggest a major role of the GABAB receptor in the epileptogenesis of absence seizures. The gene encoding the human GABABR1 receptor (GABA B R1) has recently been mapped to human chromosome 6p21.3 by in situ hybridization, a region that harbors a susceptibility locus (EJM1) for idiopathic generalized epilepsy (IGE). We investigated the hypothesis that the GABA B R1 gene (GABBR1) represents a candidate gene for EJM1 by: (1) defining the precise localization approximately 130 kilobases telomeric to the HLA-F locus, (2) by characterizing its genomic organization, and (3) by mutation screening of the entire coding region of GABBR1 in 18 German patients with juvenile myoclonic epilepsy (JME) who were derived from families with evidence for linkage to chromosome 6p21.3 (cumulative lod score Z=3.17 at HLA-DQ). The GABAB receptor gene consists of 22 translated exons. The two alternative transcripts, GABA B R1a and GABA B R1b, are derived from the same locus but they differ in their alternative 5′-exons. Mutation analyses in JME revealed several DNA sequence polymorphisms, two of which result in amino acid changes occurring in all IGE-affected members of two families. However, clinically unaffected relatives did carry the same variations, excluding these amino acid substitutions as the cause for IGE in these families.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Genetic determinants of the degree of obesity and body fat distribution have been demonstrated by family studies. The heritability has been estimated to be in the range 0.2–0.7. Mutation leading to obesity in humans has been described for only two genes, one of them the leptin gene. The leptin gene codes for a cytokine secreted by fat cells that binds to the leptin receptor (Lep-R), which exerts some of its biological functions by expression in the brain. Hence, the Lep-R gene appears to be a promising candidate for the determination of obesity in humans. We isolated genomic DNA clones from the Lep-R gene region and identified a new polymorphic microsatellite marker (OBR-CA) within 80 kb of the translation start of Lep-R. We genotyped this and a second, intragenic microsatellite marker (D1S2852) in 130 nuclear families consisting of extremely obese children and adolescents and both parents. Using the most frequent parental allele of both markers, our analysis revealed a significant transmission disequilibrium for the 266-bp allele of D1S2852 (corrected P-value=0.042). No significant result was obtained with the most frequent allele of OBR-CA (corrected P-value=1.0). However, two rare alleles showed transmission disequilibrium and were subsequently used for constructing a haplotype with the 266-bp allele. This haplotype had a transmission rate of 80% (nominal P-value=0.02). In order to identify the underlying mutation, we sequenced all coding exons of Lep-R and the partially overlapping gene encoding the obese receptor gene-related protein (ob-rgrp) in individuals carrying this haplotype. We found one new mutation (Ser675Thr) in the Lep-R gene in one proband and several other mutations known to be not associated with obesity in other study groups. As this new mutation cannot explain our positive linkage result, the transmission disequilibrium of the 266-bp allele and the high transmission rate of the identified haplotype point towards a mutation in close proximity to marker D1S2852.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1432-198X
    Keywords: Key words: Gitelman’s syndrome   ;   Bartter’s syndrome   ;   Hyperprostaglandin E syndrome   ;   Hypokalemic tubular disorder   ;   Thiazides   ;   Na-Cl-cotransport
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract. In the past the term Bartter’s syndrome has been used to describe a spectrum of inherited renal tubular disorders with hypokalemic metabolic alkalosis and overlapping and additional clinical and biochemical features. Pathogenesis remained uncertain until recently Gitelman’s syndrome, the hypokalemic-hypomagnesemic variant with hypocalciuria, was linked to the gene encoding the thiazide-sensitive Na-Cl-cotransporter (TSC) located on chromosome 16q. Various mutations in the TSC gene were identified in patients with Gitelman’s syndrome. To clarify whether different forms of hypokalemic tubular disorders (HTD) represent variable phenotypes of a common genetic defect, we performed linkage analyses in 17 families with different symptoms of HTD with four highly polymorphic chromosome 16 DNA markers closely linked to the TSC gene. Linkage of Gitelman’s syndrome to the TSC locus was confirmed in our families with a maximum two-point Lod score Z = 4.70 (θ = 0.001) for marker locus D16S526. Highly negative LOD scores were obtained at this locus in our families with classic Bartter’s syndrome (Z =  – 9.89, θ = 0.001) and hyperprostaglandin E syndrome (Z =  – 11.24, θ = 0.001). Our data prove that Gitelman’s syndrome is genetically distinct from classic Bartter’s syndrome and hyperprostaglandin E syndrome. It remains unknown if classic Bartter’s syndrome and hyperprostaglandin E syndrome are caused by a common genetic defect.
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1432-0878
    Keywords: Key words: Placenta ; Trophoblast ; Monoclonal antibodies ; HLA class I ; HLA ; G ; HLA ; C ; Human
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Expression of HLA class I molecules in trophoblast cells from various locations in normal human first trimester and term placenta was investigated by immunohistochemistry with a panel of monoclonal antibodies against the heavy chains or complete HLA class I molecules complexed with β2-microglobulin. These reagents were also employed to distinguish between the products of different HLA class I loci. In addition to previously characterized reagents, a novel monoclonal antibody against HLA-A molecules (TÜ155) was used. Various choriocarcinoma and transfected cell lines served as controls for the specificities of the monoclonal antibodies. Cells in close contact with maternal cells, such as invading trophoblast cells and cells of the basal plate, expressed β2-m micro globulin in association with HLA-G and HLA-C heavy chains. These class I heavy chains may also have been present as isolated molecules, although not in each of the cells. In contrast, cells of the chorion laeve exclusively expressed HLA-G, and not HLA-A, -B, or -C antigens. Our data support the often discussed immune protective function and the regulatory function of the HLA-G molecule, during invasion. In addition, by using monoclonal antibodies HCA2 (anti-HLA-A and -G), HC10 (anti-HLA-B and -C), TÜ149 (anti-HLA-B, -C, and some -A alleles), SFR8-B6 (anti-HLA-Bw6 and some -C), LA45 (some HLA-A and -B), TÜ48 (anti-HLA-Bw4 and some -A), and TÜ155 (anti-HLA-A), we show the presence of HLA-C molecules in all extravillous trophoblast cells of the cell columns and in the basal plate; the trophoblast cells of the chorion laeve lack this antigen. The function of this molecule is not clear, although a protective function against natural killer cell activity in the endometrium is postulated.
    Type of Medium: Electronic Resource
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  • 7
    ISSN: 1432-0878
    Keywords: Mechanoreceptors ; Hygroreceptors ; Sensilla ; Woodlouse, Porcellio scaber (Crustacea)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The ultrastructure of the tricorn sensilla of the woodlouse Porcellio scaber was investigated in cryofixed and freeze-substituted, or chemically fixed specimens. The tricorn sensilla have a foramenized triangular-shaped outer hair and bear a poreless rod-like inner hair. The conical base of the inner hair is connected to the base of the outer hair by a complex cuticular structure. Each sensillum contains three sensory cells. The tip of one of the three dendrites contains a tubular body and is clamped between two bulges of the dendritic sheath. The two other dendrites protrude to the tip of the inner hair, flush against the cuticular wall. The microtubules in the ciliary segments are arranged in nine double tubuli that have neither osmiophilic cores nor arms. The ciliary rootlets are small. The inner segment of the largest dendrite wraps around the two smaller dendrites and one of seven enveloping cells in a mesaxon-like manner. Although this ultrastructure deviates considerably from most crustacean mechanosensitive sensilla, it nevertheless suggests a mechanosensitive function, at least for one of the sensory cells. In many aspects, the tricorn sensilla resemble the thermohygrosensilla of insects. However, our results suggest that the structural criteria for thermo-hygro-sensitivity used in insects cannot simply be applied to crustaceans.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1432-0878
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1432-0878
    Keywords: Key words: Mechanoreceptors ; Hygroreceptors ; Sensilla ; Woodlouse ; Porcellio scaber (Crustacea)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. The ultrastructure of the tricorn sensilla of the woodlouse Porcellio scaber was investigated in cryofixed and freeze-substituted, or chemically fixed specimens. The tricorn sensilla have a foramenized triangular-shaped outer hair and bear a poreless rod-like inner hair. The conical base of the inner hair is connected to the base of the outer hair by a complex cuticular structure. Each sensillum contains three sensory cells. The tip of one of the three dendrites contains a tubular body and is clamped between two bulges of the dendritic sheath. The two other dendrites protrude to the tip of the inner hair, flush against the cuticular wall. The microtubules in the ciliary segments are arranged in nine double tubuli that have neither osmiophilic cores nor arms. The ciliary rootlets are small. The inner segment of the largest dendrite wraps around the two smaller dendrites and one of seven enveloping cells in a mesaxon-like manner. Although this ultrastructure deviates considerably from most crustacean mechanosensitive sensilla, it nevertheless suggests a mechanosensitive function, at least for one of the sensory cells. In many aspects, the tricorn sensilla resemble the thermo-hygrosensilla of insects. However, our results suggest that the structural criteria for thermo-hygro-sensitivity used in insects cannot simply be applied to crustaceans.
    Type of Medium: Electronic Resource
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  • 10
    ISSN: 1432-0878
    Keywords: Key words: Calcium ions ; Calcium transport ; Calcium resorption ; Porcellio scaber (Crustacea)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Before the molt, terrestrial isopods store large amounts of calcium carbonate between the epithelium and the old cuticle of the first four anterior sternites. In order to test whether the anterior sternal epithelium has specific structural differentiations indicative of transepithelial ion transport, the anterior sternal epithelium and, as a control, the posterior sternal epithelium were studied using electron-microscopical techniques. During the formation of calcium carbonate deposits, the basolateral plasma membrane of the anterior sternal epithelium forms an elaborate interconnected network of interstitial dilations and channels. Numerous osmiophilic granules occur within this basolateral intercellular network during resorption of the calcium carbonate deposits. Electron energy-loss spectroscopy of the osmiophilic granules indicates that they contain calcium. During the resorption of the calcium carbonate deposits, the apical plasma membrane of the anterior sternal epithelium has many subcuticular folds. An interstitial network, osmiophilic granules, and apical, subcuticular folds do not occur in the posterior sternal epithelium. Taken together, these structural features are indicative of transepithelial ion transport and are probably necessary for the formation and resorption of the anterior sternal calcium carbonate deposits.
    Type of Medium: Electronic Resource
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