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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 10 (1984), S. 561-571 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Several X chromosome DNA clones homologous to transcribed sequences were isolated from a human X chromosome library. The clones were selected for their ability to hybridize either with32P -labeled human cDNA in the presence of an excess of unlabeled human repetitive DNA or with mouse fibroblast cDNA. The X chromosome specificity of these sequences was demonstrated by two criteria: A dosage effect was seen when the clones were hybridized to Southern blots of DNA from 1X and 5X cells, and they hybridized to DNA from mouse-human hybrid cells containing only the human X chromosome. The presence of transcribed sequences in these X clones was detected by hybridization with mouse cDNA or with human cDNA in the presence of unlabeled human repetitive sequences, by identifying restriction fragments which hybridize with cDNA but not with human repetitive DNA, and by hybridization with poly A+ RNA on Northern blots. These clones were mapped on the human X chromosomes using a panel of mouse-human somatic cell hybrids carrying various translocated human X chromosomes.
    Type of Medium: Electronic Resource
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  • 2
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 19 (1993), S. 65-71 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The expression of mouseZfx, Rps4, Ube1x, andXist was evaluated in hamstermouse somatic cell hybrids containing either an active or an inactive mouse X chromosome using polymerase chain reaction of reverse transcribed RNA (RT-PCR). The results showed thatZfx, Rps4, andUbe1x are expressed exclusively from the active mouse X, whileXist is expressed exclusively from the inactive X. These findings confirm the pattern of X inactivation for these mouse genes reported previously based on expression in somatic tissues of F1 females from interspecific crosses. These results demonstrate the existence of differences between human and mouse X inactivation, as the corresponding human genes,ZFX, RPS4X, andUBE1 escape X inactivation.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 25 (1999), S. 67-77 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The human alanine:glyoxylate aminotransferase gene (AGXT) has been cloned and characterized in detail, and various mutant alleles have been shown to be responsible for primary hyperoxaluria type 1 (PH1). However, advances in understanding the basic mechanisms of this rare human disease have been hampered by the lack of a suitable animal model. Although several AGXT homologous genes have been cloned in a number of mammalian species, none of them allows the level of genetic experimentation that current methods provide for mouse embryo manipulation. Thus, we have carried out the molecular cloning and analysis of the mouse Agxt1 gene, as a necessary first step towards the generation of a mouse model for PH1. The full-length mouse Agxt1 cDNA is 1545 bp long, and encodes a 414 amino acid protein. Mouse Agxt1 is highly similar to its rat counterpart both at the nucleotide (91% identity) and the amino acid (92% identity) levels. Like its rat homologue, the larger mRNA species transcribed encodes a conserved amino terminal end characteristic of AGXT forms known to be targeted to the mitochondria. Mouse Agxt1 expression is restricted to the liver, and in vitro transfection of AGXT(−) cells with the cloned Agxt1 cDNA confers AGXT enzymatic activity. At the genomic level, mouse Agxt1 contains 11 exons, spannig 11 Kb, and it maps to the central portion of chromosome 1, a region of known synteny with human distal 2q, where AGXT has been previously mapped (2q36–37).
    Type of Medium: Electronic Resource
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  • 4
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 12 (1986), S. 153-161 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Methylation sensitive restriction enzymes were used to evaluate the methylation level of several restriction sites near human hypoxanthine phosphoribosyltransferase (HPRT) genes on active and inactive X chromosomes. DNA samples from leukocytes, from clonally derived fibroblasts, and from independent mouse-human hybrid lines isolated from the fusion of A-9 cells and these clonally derived human cells were studied. Comparison of the methylation patterns shows that restriction sites may show variable or constant methylation among tissues and clones, and heritability of methylation is also different among restriction sites. Methylation is more stable at sites whose methylation status correlate well with HPRT activity. Our results suggest that the methylation of certain cytosine residues may critically affect gene activity and that the methylation pattern of these sites is stably inherited.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 13 (1996), S. 83-86 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] We designed degenerate primers for the amino terminus (NFLLI-MADDLG) of rat steroid sulphatase12 and the conserved sulphatase domain (GKWHLG), and performed two rounds of amplification ‘hemi-nested’ on rat liver cDNA. After cloning and sequencing the 321-bp PCR products, various cDNA ...
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 299 (1982), S. 838-840 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The affected males in the pedigree shown in Fig. 1 have X-linked ichthyosis13 and complete deficiency of microsomal STS activity, based on assays using cholesterol sulphate and dehydroepiandrosterone sulphate (DHEAS) as steroid substrates (Tables 2, 3). Heterozygotes II-4, II-7 and II-8 are ...
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  • 7
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 7 (1994), S. 491-496 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Among a number of genes that escape X–chromosome inactivation in humans, three have been evaluated in mice and unexpectedly all three are subject to X–inactivation. We report here the cloning and expression studies of a novel mouse gene, Xe169, and show that it escapes ...
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  • 8
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 2 (1992), S. 196-199 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Mammalian X–chromosome inactivation is thought to be controlled by the X inactivation centre (XIC, X–controlling element –Xce– in mice). A human gene, XIST and its mouse counterpart, Xist, which map to the XIC/Xce, are expressed exclusively from inactive X chromosomes, ...
    Type of Medium: Electronic Resource
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  • 9
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 13 (1996), S. 78-82 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The pseudoautosomal region (PAR) is a segment of shared homology between the X and Y chromosomes. Here we report physical linkage of three mouse PAR probes: DXYHgul, DXYMov15 and (TTAGGG)n. Steroid sulphatase (Sts) maps distal to these three probes, indicating that there is an internal array of the ...
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