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  • 1
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature 420 (2002), S. 518-519 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The publication of the complete DNA sequence of human chromosome 21 two years ago provided the basis for identifying every one of the genes on this chromosome. On pages 582 and 586 of this issue, Reymond and colleagues and Gitton and co-workers extend this tremendous accomplishment by ...
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  • 2
    Electronic Resource
    Electronic Resource
    [s.l.] : Macmillan Magazines Ltd.
    Nature 405 (2000), S. 283-284 
    ISSN: 1476-4687
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Chemistry and Pharmacology , Medicine , Natural Sciences in General , Physics
    Notes: [Auszug] The sequencing of whole genomes means that genetic information is increasingly considered in functional rather than structural terms. But for the moment, the principal structural element of genomes — the chromosome — remains the predominant unit by which to measure progress in the ...
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  • 3
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] The existence of tumor-suppressor genes was originally demonstrated by functional complementation through whole-cell and microcell fusion. Transfer of chromosome 11 into a human non-small-cell lung cancer (NSCLC) cell line, A549, suppresses tumorigenicity. Loss of heterozygosity (LOH) on the long ...
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  • 4
    Electronic Resource
    Electronic Resource
    [s.l.] : Nature Publishing Group
    Nature genetics 12 (1996), S. 115-116 
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] “Males show a large increase in aggressive behaviour and excess, inappropriate sexual activity.” Comment on our times from a Womens' Studies text? Psychological assessment of British soccer fans? The latest political rationalization for welfare cutbacks? All possible interpretations, ...
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  • 5
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Trisomy 21 or Down syndrome (DS) is the most frequent genetic cause of mental retardation, affecting one in 800 live born human beings. Mice with segmental trisomy 16 (Ts65Dn mice) are at dosage imbalance for genes corresponding to those on human chromosome 21q21–22.3—which includes the ...
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Somatic cell and molecular genetics 22 (1996), S. 167-175 
    ISSN: 1572-9931
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The mousePcp4 gene is highly expressed in brain, primarily in cerebellar Purkinje cells. It maps to chromosome 16 (Chr 16), in a region of conserved synteny with human chromosome 21 (Chr 21). To further characterizePCP4 and its possible contribution to cerebellar hypoplasia in trisomy 21, or Down Syndrome (DS), we cloned and sequenced the full length human cDNA, isolated a YAC which carries the entire gene, determined the gene structure, and characterized its expression. The gene spans at least 55 kb and contains two introns, the placement of which is the same in mouse. Expression in the mouse brain during development was detected at embryonic day 10, and thereafter through development. ThePCP4 YAC was placed on the human Chr 21 YAC contig by a link to a YAC carrying the markersD21S15 andD21S349. This placement distal toETS2 was confirmed by mapping on a somatic cell hybrid panel of Chr 21 translocations. This position caused an apparent break in gene order with mouse Chr 16. However, mapping in the mouse was reassessed, andPcp4 and a linked marker,D16Mit71, were both moved distal toEts2, corresponding to the position ofPCP4 on Chr 21.
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  • 7
    ISSN: 0192-253X
    Keywords: retrovius ; chromosomal evolution ; feline genetics ; somatic cell genetics ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: A combination of technical advances (most notably heterologous cell fusion, high resolution G-banding, and molecular cloning) has contributed to an accelerated advance in genetic analysis in mammals. The present human genetic map contains over 400 gene assignments and the map is growing rapidly as each new molecular clone or immunological reagent is developed. In our laboratory, we have developed a panel of rodent X human somatic cell hybrids that have been utilized in chromosome assignment of several classes of genes including oncogenes (ras, raf) and endogenous human retroviral sequences (ERVL, 2, etc). Using similar techniques, a biochemical genetic map of the domestic cat has been derived. The cat has 19 chromosome pairs and, to date, 40 genes have been mapped to 16 linkage or syntenic groups. Comparison of linkage relationships between homologous enzymes has revealed a striking conversation of chromosomal linkage association between cat and man. A comparison of syntenically homologous, highly extended high resoultion G-banded chromosomes between the two mammalian families revealed that 20-25%, by length, of the human karyotype can be precisely aligned (chromomere to chromomere) between cats and man despite the evolutionary divergence of the species nearly 80 million years ago.Moderately repetitive families of retrovirus-related DNAs exist within the feline and the human genomes. We have isolated molecular clones of several members of the feline RD-114 retrovirus family from a genomic library of normal cat cellular DNA. The endogenous sequences analyzed were similar to each other in that they were colinear with RD-114 proviral DNA, were bounded by long terminal redundancies, and conserved many restriction sites in the gag and pol regions. Several sequences were apparently deleted, relative to the previously characterized inducible RD-114 genome. The env regions of a number of endogenous RD-114 sequences examined were substantially deleted or diverged; a subset of these sequences contained information at the position of the env region that was not homologous to inducible RD-114. The RD-114 virogenes were dispersed to several cat chrosomes that were localized using a panel of rodent x cat somatic cell hybrids. A comparison of the genetic properties of endogenous human retroviral sequences revealed several similarities between the human and feline status of endogenous retroviruses.
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  • 8
    Electronic Resource
    Electronic Resource
    Chichester [u.a.] : Wiley-Blackwell
    Developmental Genetics 8 (1987), S. 249-265 
    ISSN: 0192-253X
    Keywords: trisomy ; trisomy 16 mouse ; trisomy 19 mouse ; Down syndrome ; gene dosage effects ; Life and Medical Sciences ; Genetics
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology
    Notes: Autosomal aneuploidy in mammals adversely affects developmental processes. In human beings, for example, trisomy 21 is the most frequent aneuploidy detected among newborns and the most common known genetic cause of mental retardation. In this review, several hypotheses are discussed that have been proposed to explain the mechanisms by which aneuploidy (especially trisomy) disrupts development. These mechanisms included specific gene dosage effects, generalized disruption of genetic homeostasis, and the influence of the parental origin of the duplicated chromosome. The availability of specific chromosomal rearrangements in mice, coupled with selective breeding schemes, permits generation of aneuploidy of specific chromosomes or chromosomal segments on controlled genetic backgrounds, thus enabling the systematic study of the causes and consequences of defined aneuploidy. Phenotypic characteristics associated with a number of specific aneuploidies in the mouse are discussed. Emphasis is placed on the effects of trisomy 16. Genetic homology between mouse chromosome 16 and human chromosome 21 has led investigators to suggest that analogous mechanisms will be responsible for the developmental abnormalities produced in these respective aneuploidies. Analysis of trisomy 16 mice from the organismal to the subcellular level has revealed a number of phenotypic characteristics (particularly neurobiologic ones) shared with human trisomy 21. The dosage effects of shared genes (or their products) may contribute to the development of these features.
    Additional Material: 1 Ill.
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  • 9
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Proximal mouse Chromosome (Chr) 16 shows conserved synteny with human Chrs 16, 8, 22, and 3. The mouse Chr 16/human Chr 22 conserved synteny region includes the DiGeorge/Velocardiofacial syndrome region of human Chr 22q11.2. A physical map of the entire mouse Chr 16/human Chr 22 region of conserved synteny has been constructed to provide a substrate for gene discovery, genomic sequencing, and animal model development. A YAC contig was constructed that extends ca. 5.4 Mb from a region of conserved synteny with human Chr 8 at Prkdc through the region conserved with human Chr 3 at DVL3. Sixty-one markers including 37 genes are mapped with average marker spacing of 90 kb. Physical distance was determined across the 2.6-Mb region from D16Mit74 to Hira with YAC fragmentation. The central region from D16Jhu28 to Igl-C1 was converted into BAC and PAC clones, further refining the physical map and providing sequence-ready template. The gene content and borders of three blocks of conserved linkage between human Chr 22q11.2 mouse Chr 16 are refined.
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Mammalian genome 3 (1992), S. S153 
    ISSN: 1432-1777
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
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