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  • 1
    Keywords: Genomics ; Clinical Medicine
    Description / Table of Contents: Machine generated contents note: I.Methods -- 1.Overview of Technical Aspects and Chemistries of Next-Generation Sequencing / Ian S. Hagemann -- Clinical Molecular Testing: Finer and Finer Resolution -- Sanger Sequencing -- Cyclic Array Sequencing -- Illumina Sequencing -- SOLiD Sequencing -- Ion Torrent Sequencing -- Roche 454 Genome Sequencers -- Third-Generation Sequencing Platforms -- References -- 2.Clinical Genome Sequencing / Erica Ramos -- Introduction -- Applications and Test Information -- Laboratory Process, Data Generation, and Quality Control -- Conclusion -- References -- 3.Targeted Hybrid Capture Methods / Elizabeth C. Chastain -- Introduction -- Basic Principles of Hybrid Capture-Based NGS -- Hybrid Capture-Based Target Enrichment Strategies -- Clinical Applications of Target Capture Enrichment -- Variant Detection -- Practical and Operational Considerations -- Conclusions -- References -- 4.Amplification-Based Methods / Yuri E. Nikiforov -- Introduction --
    Pages: xvii, 470 pages : illustrations
    ISBN: 9780124051737
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  • 2
    ISSN: 1365-2958
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: The destruction and processing of bacteria by activated macrophages facilitates the presentation of antigens to T cells and thereby promotes the induction of specific immunity. The PhoP-PhoQ regulatory system that controls the synthesis of many Salmonella proteins required for virulence and survival within macrophages is one mechanism that this particular intracellular pathogen has evolved to resist destruction. To address whether the phoP locus also influences antigen processing during the interaction of Salmonella typhimurium with macrophages, we tested the effect of phoP mutations on the processing and presentation of model antigens expressed by the bacteria. Activated macrophages processed phoP− bacteria with greater efficiency than wild-type bacteria, as measured by the response of antigen-specific T-hybridoma cells; Salmonella constitutively expressing PhoP were processed even less efficiently than wild-type Salmonella. After heat-inactivation, however, both wild-type and phoP− bacteria were efficiently processed. The altered processing and presentation efficiency was not due to differences in the level of antigen expressed by the bacteria or differences in the level of bacterial uptake by the macrophages. In addition, phoP-regulated gene expression was shown to influence processing of antigen phagocytosed independently of the bacteria. Thus, phoP-regulated gene products decrease the processing and presentation of S. typhimurium antigens, demonstrating a rote 1or this virulence locus in the inhibition of the induction of specific immunity.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1365-2958
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Biology , Medicine
    Notes: On centisome 7, Salmonella spp. contain a large region not present in the corresponding region of Escherichia coli. This region is flanked by sequences with significant homology to the E. coli tRNA gene aspV and the hypothetical E. coli open reading frame yafV. The locus consists of a mosaic of differentially acquired inserts forming a dynamic cs7 region of horizontally transferred inserts. Salmonella enterica subspecies I, responsible for most Salmonella infections in warm-blooded animals, carries a fimbrial gene cluster (saf) in this region as well as a regulatory gene (sinR). These genes are flanked by inverted repeats and are inserted in another laterally transferred region present in most members of Salmonella spp. encoding a putative invasin (pagN ). S. enterica subspecies I serovar Typhi, the Salmonella serovar that causes the most severe form of human salmonellosis, contains an additional insert of at least 8 kb in the sinR–pagN intergenic region harbouring a novel fimbrial operon (tcf ) similar to the coo operon encoding the CS1 fimbrial adhesin expressed by human-specific enterotoxigenic E. coli. It is suggested that the multiple insertions of fimbrial genes that have occurred in the cs7 region have contributed to phylogenetic diversity and host adaptation of Salmonella spp.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: There are many similarities in the morphology of benign and malignant lesions of the sweat glands and the breasts. The recently described cutaneous mammary-like sweat glands, also known as mixed sweal glands or apoeccrine glands, are also a likely source of selected proliferations that closely mimic those of the breast. We present three cases of breast-like lesions arising in the skin that demonstrate the ways in which the morphologic and pathologic continuum of the mammary glands, cutaneous mammary-like glands, and sweat glands can produce difficulties in precise diagnosis. The examples demonstrate that an anatomic location outside the milk line does not preclude the diagnosis of ectopic mammary tissue, and that lesions closely resembling those of the breast may also arise outside the milk line from conventional sweat glands or mixed sweat glands. The concept of homologous lesions of the breast, breast-like glands and sweat glands, in which morphology is partially mirrored by biochemical similarities, provides a perspective for classification of problematic cases of breast-like cutaneous lesions.
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  • 5
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Background:  Dermatofibrosarcoma protuberans (DFSP) is an uncommon infiltrative tumor of the dermis with characteristic cytogenetic features, specifically the translocation t(17;22)(q22;q13) which often manifests as a supernumerary ring chromosome r(17;22). The translocation results in the fusion of two genes, collagen type I alpha 1(COL1A1) and platelet-derived growth factor B-chain (PDGFB). The trunk and extremities are the anatomic sites of predilection for DFSP, whereas the vulva and groin are quite uncommon sites of involvement.Methods:  This investigation evaluated seven DFSPs (four vulvar and three groin) for the presence of COL1A1-PDGFB fusion transcripts by reverse transcriptase-polymerase chain reaction (RT-PCR), using archival formalin-fixed, paraffin-embedded tissue.Results:  Six of seven cases (three vulvar, three groin) contained a COL1A1-PDGFB fusion transcript. Sequence analysis of the PCR products revealed that the break-point of the COL1A1 gene was located after exon 40 in two patients, after exon 42 in one patient, after exon 44 in one patient, and after exon 47 in two patients; the break-point in the PDGFB gene was before exon 2 in all cases. No fusion transcript could be amplified in one case.Conclusions:  As in DFSP at other sites, COL1A1- PDGFB chimeric fusion transcripts are present in vulvar and groin DFSP. The transcripts can be detected in formalin-fixed, paraffin-embedded tumor tissues, and have the same general pattern of exon boundaries as in DFSP at other sites.
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  • 6
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] We used the 257-264 epitope of ovalbumin (OVA) that binds the H-2Kb murine class I MHC molecule8. This epitope was expressed within fusion proteins in Escherichia coli or Salmonella typhimurium. DNA encoding residues 257-277 of OVA was inserted into the carboxy-terminal region of cr/, an E. coli ...
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