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  • 1
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] To isolate the full coding sequence of the dystrophin gene, cDNA clones were used to walk sequentially in an oligo(dT)-primed, fetal-muscle cDNA library14"15. When the library was screened with two contiguous Hindll DMD cDNA fragments (D1.2 and D0.6, Fig. 1) that encode the final C-terminal domain ...
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  • 2
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human carbonic anhydrase isozymes represent a family of homologous proteins which are important in respiratory function, fluid secretion, and maintenance of cellullar acid-base homeostasis. Using somatic cell genetic techniques we have mapped two of the CA genes (CA1and CA3)to human chromosome 8. In situ hybridization data demonstrates that both CA1and CA3map to the same region (q13–q22) of chromosome 8.
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  • 3
    ISSN: 1573-5192
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary 1. The technique of sodium dodecyl sulphate polyacrylamide gel electrophoresis (SDS-PAGE) has been evaluated as a method for the characterization of trypanosomes. 2. Twenty-five populations, including seven clones, isolated from bats in Europe, Canada and Latin America could be grouped into eight subpopulations having similar polypeptide profiles. We propose to designate such subpopulations by the term ‘peptideme’. 3. Our peptidemes were compared with the previous classification, obtained by DNA buoyant density (Newton, 1976), isoenzym electrophoresis and morphological studies (Baker et al., 1976, 1978; Baker & Miles, 1979) as follows: 4. Peptideme 1 corresponded with Trypanosoma dionisii dionisii and peptideme 2 with T. d. breve and T. Hedricki. However, peptidemes 1 and 2 had some common shared characters. 5. Peptideme 3 corresponded with T. myoti and peptideme 4 with strain Z of T. cruzi marinkellei. Again, peptidemes 3 and 4 had some shared characters and these also shared some characters with peptidemes 1 and 2. 6. Peptideme 5 contained strains N2 and N6 of T. vespertilionis; the other strains of this species (482 and 482 clone 1), although sharing some common characters, were sufficiently different to enable us to group them as peptideme 6. 7. The remaining T. c. marinkellei strains were grouped into peptidemes 7 (B7, M1116, M1117, M1117X) and 8 (B34, M1909), although once again, these two peptidemes had some shared characters. Thus the peptideme method of classification of these trypanosomes corresponds well with the classification proposed previously but it is a more sensitive method and can recognize more subtle variation between the strains.
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  • 4
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We have explored the potential of irradiation-fusion gene transfer (IFGT) hybrids as a source of well-defined human chromosome fragments from which probes can be derived. Extensive characterization of the IFGT hybrid 4J4 with a full panel of markers from Chromosome (Chr) 6 showed that the human DNA content derives largely from 6p21.3 and 6q27. A cosmid library has been constructed from 4J4 DNA, and 370 recombinants containing human DNA have been isolated and overlapping clones ordered into 20 contigs. Regional localization of representative clones from each contig, determined by fluorescent in situ hybridization (FISH), places 13 contigs in 6q27 and 6 in 6p21.3. Preliminary screening of cDNA libraries with selected cosmids has identified two expressed sequences. Since there are a number of medically important genes in both these regions of human Chr 6 with several disease loci linked to the HLA-A region in 6p21.3 and various tumor suppressor genes to 6q27, this library will provide a valuable resource to aid the isolation of candidate genes for these diseases. In addition, unique markers for detailed physical and genetic mapping of these regions of human Chr 6 can be easily obtained.
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  • 5
    Electronic Resource
    Electronic Resource
    New York, NY [u.a.] : Wiley-Blackwell
    Developmental Dynamics 198 (1993), S. 254-264 
    ISSN: 1058-8388
    Keywords: Dystrophin ; Neural crest ; Neural tube ; Embryogenesis ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine
    Notes: The utrophin (UTRN) locus is the autosomal homologue of the DMD (Duchenne muscular dystrophy) gene and encodes a protein, utrophin which is thought to be upregulated in the absence of dystrophin. In this study the spatial and temporal expression of the UTRN gene has been examined during mouse embryogenesis and compared with that of the DMD gene. The patterns of expression of these two genes are very different. Whilst DMD is expressed largely in mesodermal derivatives such as cardiac and striated muscle, UTRN shows a more widespread distribution and is expressed in neural tube, tissues which originate from neural crest and a variety of other sites of non-neural origin. In early embryos UTRN transcripts initially accumulate in the mid-neural plate and thereafter in the caudal neural tube. UTRN mRNA then becomes abundant in a subset of neural crest cell derived tissues, in particular the spinal and facial ganglia and ossifying facial cartilages. UTRN is also expressed in a variety of other sites and organs such as the tendon primordia in the digits, the pituitary, thyroid and adrenal glands, cardiac muscle, kidney and lung, follicies of the vibrissae and the outflow tract of the heart. Several patterns of UTRN expression are apparent and we discuss the possibility that these can be ascribed to a family of mRNAs transcribed from the UTRN gene using alternative promoters. © 1993 Wiley-Liss, Inc.
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  • 6
    ISSN: 1058-8388
    Keywords: Dystroglycan ; mdx ; Utrophin ; Apodystrophin ; Dp71 ; Dp116 ; Life and Medical Sciences ; Cell & Developmental Biology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Medicine
    Notes: α dystroglycan (156 kDa DAG) and β dystroglycan (43 kDa DAG) are encoded by the same gene and are components of the dystrophin-associated membrane glycoprotein complex. The dystroglycans together with dystrophin form a link between the extracellular matrix and the intracellular cytoskeleton of the muscle fibre. Using in situ hybridisation to mRNA in embryo sections we have examined the expression of the mouse dystroglycan gene. Dystroglycan transcripts are ubiquitously expressed throughout developmnet but are most abundant in cardiac, skeletal and smooth muscle and in ependymal cells lining the developing neural tube and brain. The expression patterns of dystroglycan and dystrophin ovrlap in the major muscle systems during development, suggesting that the dystrophin-dystroglycan complex plays an important role during myogenesis. In contrast, the major sites of utrophin expression do not co-localize with those of dystroglycan suggesting that utrophin may interact with a distinct membrane-associated complex in these non-muscle sites. In mdx embryos the pattern of distribution of dystroglycan mRNA remains unchanged, as do those of utrophin and apo-dystrophin mRNAs. This observation implies that the observed changes in the relative abundance of DAGs and utrophin in dystrophin-deficient muscle occur post-transcriptionally. © 1995 wiley-Liss, Inc.
    Additional Material: 4 Ill.
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  • 7
    ISSN: 0192-253X
    Keywords: lactate dehydrogenase ; spermatogenesis ; multigene enzyme family ; somatic cell hybrids ; gene mapping ; evolution ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: From the data presented in this report, the human LDHC gene locus is assigned to chromosome 11. Three genes determine lactate dehydrogenase (LDH) in man. LDHA and LDHB are expressed in most somatic tissues, while expression of LDHC is confined to the germinal epithelium of the testes. A human LDHC cDNA clone was used as a probe to analyze genomic DNA from rodent/human somatic cell hybrids. The pattern of bands with LDHC hybridization is easily distinguished from the pattern detected by LDHA hybridization, and the LDHC probe is specific for testis mRNA.The structural gene LDHA has been previously assigned to human chromosome 11, while LDHB maps to chromosome 12. Studies of pigeon LDH have shown tight linkage between LDHB and LDHC leading to the expectation that these genes would be syntenic in man. However, the data presented in this paper show conclusively that LDHC is syntenic with LDHA on human chromosome 11.The terminology for LDH genes LDHA, LDHB, and LDHC is equivalent to Ldhl, Ldh2, and Ldh3, respectively.
    Additional Material: 4 Ill.
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