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  • 1
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    Bone marrow origin of hepatic macrophages (Kupffer cells) in humans (1978)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1978-09-08
    Description: Hepatic macrophages (Kupffer cells) from two male recipients of bone marrow transplants from females were studied for fluorescent Y body staining and sex chromatin (Barr body). After the transplant, macrophages had the sex karyotype of the donor, indicating that human hepatic macrophages originate in bone marrow.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gale, R P -- Sparkes, R S -- Golde, D W -- New York, N.Y. -- Science. 1978 Sep 8;201(4359):937-8.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/356266" target="_blank"〉PubMed〈/a〉
    Keywords: Adolescent ; *Bone Marrow Cells ; Bone Marrow Transplantation ; Cell Differentiation ; Cell Movement ; Female ; Graft vs Host Disease/immunology ; Humans ; Kupffer Cells/*cytology ; Male ; Transplantation, Homologous
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 2
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    Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14 (1980)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1980-05-30
    Description: The expression of human esterase D was evaluated quantitatively and qualitatively in five persons with partial deletions or duplications of chromosome 13. The results showed that the locus of this enzyme is at band 13q14. Deletion of this same band in other subjects has been found previously to indicate a predisposition to the development of retinoblastoma, which was present in the four individuals in this study who had partial deletions of chromosome 13. Because of this close synteny, esterase D evaluation should aid in the diagnosis and genetic counseling of retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Sparkes, M C -- Wilson, M G -- Towner, J W -- Benedict, W -- Murphree, A L -- Yunis, J J -- New York, N.Y. -- Science. 1980 May 30;208(4447):1042-4.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7375916" target="_blank"〉PubMed〈/a〉
    Keywords: Chromosome Deletion ; Chromosome Mapping ; *Chromosomes, Human, 13-15 ; Esterases/*genetics ; Female ; Genes ; Humans ; Intellectual Disability/enzymology/genetics ; Male ; Retinoblastoma/enzymology/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 3
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    Gene for hereditary retinoblastoma assigned to human chromosome 13 by linkage to esterase D (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-02-25
    Description: Evaluation of three families with hereditary retinoblastoma demonstrates close linkage of the gene for this tumor with the genetic locus for esterase D. These results assign the gene for the hereditary form of retinoblastoma to band q14 on chromosome 13, the same region which is affected in the chromosome deletion form of this eye tumor, and therefore suggest a common underlying mechanism in the pathogenesis of these two forms of retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Murphree, A L -- Lingua, R W -- Sparkes, M C -- Field, L L -- Funderburk, S J -- Benedict, W F -- EY-02715/EY/NEI NIH HHS/ -- HD-04612/HD/NICHD NIH HHS/ -- HD-05615/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1983 Feb 25;219(4587):971-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6823558" target="_blank"〉PubMed〈/a〉
    Keywords: Chromosome Deletion ; Chromosome Mapping ; *Chromosomes, Human, 13-15 ; Esterases/genetics ; Genetic Linkage ; Humans ; Retinoblastoma/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 4
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    Reactivation of an inactive human X chromosome: evidence for X inactivation by DNA methylation (1981)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1981-01-23
    Description: A mouse-human somatic cell hybrid clone, deficient in hypoxanthine-guanine phosphoribosyltransferase (HPRT) and containing a structurally normal inactive human X chromosome, was isolated. The hybrid cells were treated with 5-azacytidine and tested for the reactivation and expression of human X-linked genes. The frequency of HPRT-positives clones after 5-azacytidine treatment was 1000-fold greater than that observed in untreated hybrid cells. Fourteen independent HPRT-positive clones were isolated and analyzed for the expression of human X markers. Isoelectric focusing showed that the HPRT expressed in these clones is human. One of the 14 clones expressed human glucose-6-phosphate dehydrogenase and another expressed human phosphoglycerate kinase. Since 5-azacytidine treatment results in hypomethylation of DNA, DNA methylation may be a mechanism of human X chromosome inactivation.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mohandas, T -- Sparkes, R S -- Shapiro, L J -- HD-04612/HD/NICHD NIH HHS/ -- HD-05615/HD/NICHD NIH HHS/ -- HD-12178/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1981 Jan 23;211(4480):393-6.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6164095" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Azacitidine/*pharmacology ; Base Sequence ; Cell Differentiation ; DNA/*metabolism ; Female ; Gene Expression Regulation/*drug effects ; Glucosephosphate Dehydrogenase/genetics ; Humans ; Hybrid Cells/physiology ; Hypoxanthine Phosphoribosyltransferase/genetics ; Methylation ; Mice ; *Sex Chromosomes ; *X Chromosome
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 5
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    Familial retinoblastoma and chromosome 13 deletion transmitted via an insertional translocation (1981)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1981-09-25
    Description: Surviving persons from a kindred in which retinoblastoma occurred over four generations, transmitted by eight unaffected individuals, underwent chromosomal analysis. The results revealed that the development of retinoblastoma was associated with a constitutional chromosome deletion del(13)(q13.1q14.5) and that the unaffected transmitting state was associated with a balanced insertional translocation. These findings indicate that predisposition to retinoblastoma may be attributed to the loss of specific genetic material and that a chromosomal mechanism may explain apparent lack of gene penetrance in certain families. The development of unilateral, and not bilateral, retinoblastoma suggests either that the chromosome deletion is different from the mutation of heritable retinoblastoma in general, or that the chromosome deletion lessens the probability of subsequent somatic carcinogenic events.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Strong, L C -- Riccardi, V M -- Ferrell, R E -- Sparkes, R S -- CA-25597/CA/NCI NIH HHS/ -- EY03430/EY/NEI NIH HHS/ -- ND-04612/ND/ONDIEH CDC HHS/ -- New York, N.Y. -- Science. 1981 Sep 25;213(4515):1501-3.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7280668" target="_blank"〉PubMed〈/a〉
    Keywords: *Carboxylesterase ; Carboxylic Ester Hydrolases/genetics ; *Chromosome Aberrations ; *Chromosomes, Human, 13-15 ; Humans ; Pedigree ; Retinoblastoma/*genetics ; Translocation, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 6
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    Patient with 13 chromosome deletion: evidence that the retinoblastoma gene is a recessive cancer gene (1983)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1983-02-25
    Description: Although a constitutional chromosomal deletion including 13q14 has been found to date in all retinoblastoma patients whose esterase D activity is 50 percent of normal, one female patient has been found who has 50 percent esterase D activity in all normal cells examined but no deletion of 13q14 at the 550-band level. Therefore, she has the smallest constitutional chromosomal deletion within 13q14 that is associated with susceptibility to retinoblastoma. Two stem lines were identified in a retinoblastoma from this patient, and each one had a missing 13 chromosome. No detectable esterase D activity was found in the tumor, indicating that the normal nondeleted 13 chromosome was lost in both stem lines. Thus the data from this patient not only show that there is a total loss of genetic information at the location of the retinoblastoma gene within the tumor, but also imply that recessive genes may play an important role in the development of certain human tumors including retinoblastoma.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Benedict, W F -- Murphree, A L -- Banerjee, A -- Spina, C A -- Sparkes, M C -- Sparkes, R S -- EY-02715/EY/NEI NIH HHS/ -- New York, N.Y. -- Science. 1983 Feb 25;219(4587):973-5.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/6336308" target="_blank"〉PubMed〈/a〉
    Keywords: Child, Preschool ; Chromosome Deletion ; *Chromosomes, Human, 13-15 ; DNA, Neoplasm/genetics ; Female ; Genes, Recessive ; Humans ; Karyotyping ; Retinoblastoma/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 7
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    Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q (1979)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1979-03-09
    Description: A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- Muller, H -- Klisak, I -- New York, N.Y. -- Science. 1979 Mar 9;203(4384):1027-9.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/424728" target="_blank"〉PubMed〈/a〉
    Keywords: Child ; Chromosome Aberrations/*genetics ; *Chromosome Deletion ; Chromosome Disorders ; *Chromosome Inversion ; *Chromosomes, Human, 13-15 ; Eye Neoplasms/*genetics ; Female ; Humans ; Models, Biological ; Retinoblastoma/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 8
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    Genetic abnormalities: the consequences of chromosome imbalance (1987)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1987-02-20
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Sparkes, R S -- New York, N.Y. -- Science. 1987 Feb 20;235(4791):916a.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17778866" target="_blank"〉PubMed〈/a〉
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 9
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    Hormone-sensitive lipase: sequence, expression, and chromosomal localization to 19 cent-q13.3 (1988)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1988-09-16
    Description: Hormone-sensitive lipase, a key enzyme in fatty acid mobilization, overall energy homeostasis, and possibly steroidogenesis, is acutely controlled through reversible phosphorylation by catecholamines and insulin. The 757-amino acid sequence predicted from a cloned rat adipocyte complementary DNA showed no homology with any other known lipase or protein. The activity-controlling phosphorylation site was localized to Ser563 in a markedly hydrophilic domain, and a lipid-binding consensus site was tentatively identified. One or several messenger RNA species (3.3, 3.5, or 3.9 kilobases) were expressed in adipose and steroidogenic tissues and heart and skeletal muscle. The human hormone-sensitive lipase gene mapped to chromosome 19 cent-q13.3.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Holm, C -- Kirchgessner, T G -- Svenson, K L -- Fredrikson, G -- Nilsson, S -- Miller, C G -- Shively, J E -- Heinzmann, C -- Sparkes, R S -- Mohandas, T -- New York, N.Y. -- Science. 1988 Sep 16;241(4872):1503-6.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medical and Physiological Chemistry, University of Lund, Sweden.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/3420405" target="_blank"〉PubMed〈/a〉
    Keywords: Amino Acid Sequence ; Animals ; Base Sequence ; Chromosome Mapping ; *Chromosomes, Human, Pair 19 ; Cloning, Molecular ; DNA/genetics ; Gene Expression Regulation ; Humans ; Molecular Sequence Data ; Rats ; Sterol Esterase/*genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
    Published by American Association for the Advancement of Science (AAAS)
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  • 10
    Electronic Resource
    Electronic Resource
    Chromosome polymorphism in deer mouse siblings (Peromyscus maniculatus) (1970)
    Springer
    Cellular and molecular life sciences 26 (1970), S. 425-426 
    Details
    ISSN: 1420-9071
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Zusammenfassung Früher wurde bereits ein Chromosomenpolymorphismus in nicht verwandtenPeromyscus maniculatus, wahrscheinlich durch perizentrische Inversion bedingt, gezeigt. Es wird nun nachgewiesen, dass dieser Polymorphismus auch unter Geschwistern vorkommt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01896928
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    Paper (German National Licenses)
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