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  • 1
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    Genes for epilepsy mapped in the mouse (1991)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1991-08-09
    Beschreibung: The neurological mutant mouse strain E1 is a model for complex partial seizures in humans. The inheritance of epileptic seizures with seven conventional chromosomal markers and over 60 endogenous proviral markers was studied by means of back-crosses of E1 with two seizure-resistant strains, DBA/2J and ABP/LeJ. The major gene responsible for this epileptic phenotype (El-1) was localized to a region distal with respect to the centromere on chromosome 9. At least one other gene, El-2, linked to proviral markers on chromosome 2, also influences the seizure phenotype. In addition, a potential modifier of seizures was detected in the DBA/2J background. The location of El-1 on distal chromosome 9 may allow identification of an epilepsy candidate gene in humans on the basis of conserved synteny with human chromosome 3.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Rise, M L -- Frankel, W N -- Coffin, J M -- Seyfried, T N -- NS 23355/NS/NINDS NIH HHS/ -- R35CA44385/CA/NCI NIH HHS/ -- New York, N.Y. -- Science. 1991 Aug 9;253(5020):669-73.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biology, Boston College, Chestnut Hill 02167.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1871601" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Chromosome Mapping ; Crosses, Genetic ; Epilepsy/*genetics ; Female ; Genetic Predisposition to Disease ; Male ; Mice ; Mice, Inbred Strains ; Mice, Neurologic Mutants/*genetics ; Recombination, Genetic ; Seizures/genetics ; Software
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 2
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    Long-term high-titer neutralizing activity induced by octameric synthetic HIV-1 antigen (1991)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1991-10-11
    Beschreibung: A titer for homologous viral neutralization activity (greater than 1:19,683) was observed after a 3.5-year immunization period with an octameric, branching peptide representing the principal neutralizing determinant (PND) of the human immunodeficiency virus-1IIIB envelope protein. Booster immunizations elicited persistent and potent antibodies in guinea pigs, exceeding responses produced by a conventional bovine serum albumin conjugate by 100-fold. Peptide length, central presentation of a conserved sequence, and inclusion of an upstream sequence contributed to immunogenicity. Titers (greater than 1:1,000) of heterotypic neutralizing antibodies also developed. Octameric PND peptides are a promising approach for an acquired immunodeficiency syndrome (AIDS) vaccine.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Wang, C Y -- Looney, D J -- Li, M L -- Walfield, A M -- Ye, J -- Hosein, B -- Tam, J P -- Wong-Staal, F -- IU01-AI-30238/AI/NIAID NIH HHS/ -- New York, N.Y. -- Science. 1991 Oct 11;254(5029):285-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉United Biomedical, Inc., Lake Success, NY 11042.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1925584" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): AIDS Vaccines/genetics/*immunology ; Amino Acid Sequence ; Animals ; Female ; Guinea Pigs ; HIV Antigens/genetics/*immunology ; HIV-1/*immunology ; Molecular Sequence Data ; Neutralization Tests ; Vaccines, Synthetic/genetics/*immunology
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 3
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    Mutations in aquaporin-1 in phenotypically normal humans without functional CHIP water channels (1994)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1994-09-09
    Beschreibung: The gene aquaporin-1 encodes channel-forming integral protein (CHIP), a member of a large family of water transporters found throughout nature. Three rare individuals were identified who do not express CHIP-associated Colton blood group antigens and whose red cells exhibit low osmotic water permeabilities. Genomic DNA analyses demonstrated that two individuals were homozygous for different nonsense mutations (exon deletion or frameshift), and the third had a missense mutation encoding a nonfunctioning CHIP molecule. Surprisingly, none of the three suffers any apparent clinical consequence, which raises questions about the physiological importance of CHIP and implies that other mechanisms may compensate for its absence.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Preston, G M -- Smith, B L -- Zeidel, M L -- Moulds, J J -- Agre, P -- DK32753/DK/NIDDK NIH HHS/ -- HL33991/HL/NHLBI NIH HHS/ -- HL48268/HL/NHLBI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1994 Sep 9;265(5178):1585-7.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biological Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD 21205.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7521540" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Aquaporin 1 ; *Aquaporins ; Base Sequence ; Blood Group Antigens ; Cell Membrane Permeability ; Erythrocyte Membrane/chemistry/physiology ; Exons ; Female ; Homozygote ; Humans ; Ion Channels/blood/*genetics/urine ; Kidney Tubules/chemistry ; Molecular Sequence Data ; Mutation ; Oocytes ; Phenotype ; Polymerase Chain Reaction ; Xenopus
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 4
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    Saltation and stasis: a model of human growth (1992)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1992-10-30
    Beschreibung: Human growth has been viewed as a continuous process characterized by changing velocity with age. Serial length measurements of normal infants were assessed weekly (n = 10), semiweekly (n = 18), and daily (n = 3) (19 females and 12 males) during their first 21 months. Data show that growth in length occurs by discontinuous, aperiodic saltatory spurts. These bursts were 0.5 to 2.5 centimeters in amplitude during intervals separated by no measurable growth (2 to 63 days duration). These data suggest that 90 to 95 percent of normal development during infancy is growth-free and length accretion is a distinctly saltatory process of incremental bursts punctuating background stasis.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Lampl, M -- Veldhuis, J D -- Johnson, M L -- DK 38942/DK/NIDDK NIH HHS/ -- KO4HD00634/HD/NICHD NIH HHS/ -- New York, N.Y. -- Science. 1992 Oct 30;258(5083):801-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Anthropology, University of Pennsylvania, Philadelphia 19104.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/1439787" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Aging ; Body Height ; Cephalometry ; Female ; *Growth ; Head/growth & development ; Humans ; Infant ; Infant, Newborn ; Kinetics ; Male ; *Models, Biological
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 5
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    Zebrafish as developmental models (1990)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1990-12-07
    Beschreibung: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Page, L M -- New York, N.Y. -- Science. 1990 Dec 7;250(4986):1320.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/2255901" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Female ; Models, Biological ; Reproduction ; Species Specificity ; Zebrafish/genetics/*physiology
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 6
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    Requirement for Cdk2 in cytostatic factor-mediated metaphase II arrest (1993)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1993-03-19
    Beschreibung: The unfertilized eggs of vertebrates are arrested in metaphase of meiosis II because of the activity of cytostatic factor (CSF). Xenopus CSF is thought to contain the product of the Mos proto-oncogene, but other proteins synthesized during meiosis II are also required for arrest induced by CSF. In Xenopus oocytes, ablation of synthesis of cyclin-dependent kinase 2 (Cdk2) during meiosis resulted in absence of the metaphase II block, even though the Mosxe protein kinase was fully active at metaphase. Introduction of purified Cdk2 restored metaphase II arrest, and increasing the amount of Cdk2 during meiosis I (when Mosxe is present) led to metaphase arrest at meiosis I. These data indicate that metaphase arrest is a result of cooperation between a proto-oncogene kinase and a cyclin-dependent kinase and illustrate the interaction of a cell growth regulator with a cell cycle control element.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gabrielli, B G -- Roy, L M -- Maller, J L -- F32 CA0981/CA/NCI NIH HHS/ -- GM26743/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 1993 Mar 19;259(5102):1766-9.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Pharmacology, University of Colorado School of Medicine, Denver 80262.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/8456304" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Animals ; Base Sequence ; *CDC2-CDC28 Kinases ; Cyclin-Dependent Kinase 2 ; *Cyclin-Dependent Kinases ; Female ; Meiosis/*physiology ; Metaphase/*physiology ; Molecular Sequence Data ; Oligonucleotides, Antisense/pharmacology ; Oocytes/*cytology/drug effects/metabolism ; Phosphorylation ; Poly A/metabolism ; Progesterone/pharmacology ; Protein Kinases/genetics/*physiology ; *Protein-Serine-Threonine Kinases ; *Proto-Oncogene Proteins c-mos/metabolism/*physiology ; RNA, Messenger/metabolism ; Xenopus ; Xenopus Proteins
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 7
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    BRCA1 mutations in primary breast and ovarian carcinomas (1994)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1994-10-07
    Beschreibung: Loss of heterozygosity data from familial tumors suggest that BRCA1, a gene that confers susceptibility to ovarian and early-onset breast cancer, encodes a tumor suppressor. The BRCA1 region is also subject to allelic loss in sporadic breast and ovarian cancers, an indication that BRCA1 mutations may occur somatically in these tumors. The BRCA1 coding region was examined for mutations in primary breast and ovarian tumors that show allele loss at the BRCA1 locus. Mutations were detected in 3 of 32 breast and 1 of 12 ovarian carcinomas; all four mutations were germline alterations and occurred in early-onset cancers. These results suggest that mutation of BRCA1 may not be critical in the development of the majority of breast and ovarian cancers that arise in the absence of a mutant germline allele.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Futreal, P A -- Liu, Q -- Shattuck-Eidens, D -- Cochran, C -- Harshman, K -- Tavtigian, S -- Bennett, L M -- Haugen-Strano, A -- Swensen, J -- Miki, Y -- CA48711/CA/NCI NIH HHS/ -- CA55914/CA/NCI NIH HHS/ -- CA56749/CA/NCI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1994 Oct 7;266(5182):120-2.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Laboratory of Molecular Carcinogenesis, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7939630" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Adult ; Age of Onset ; Alleles ; BRCA1 Protein ; Base Sequence ; Breast Neoplasms/*genetics ; Chromosomes, Human, Pair 17 ; Female ; *Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; *Germ-Line Mutation ; Heterozygote ; Humans ; Middle Aged ; Molecular Sequence Data ; Neoplasm Proteins/*genetics ; Ovarian Neoplasms/*genetics ; Transcription Factors/*genetics
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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  • 8
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    A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1 (1994)
    American Association for the Advancement of Science (AAAS)
    Details
    Publikationsdatum: 1994-10-07
    Beschreibung: A strong candidate for the 17q-linked BRCA1 gene, which influences susceptibility to breast and ovarian cancer, has been identified by positional cloning methods. Probable predisposing mutations have been detected in five of eight kindreds presumed to segregate BRCA1 susceptibility alleles. The mutations include an 11-base pair deletion, a 1-base pair insertion, a stop codon, a missense substitution, and an inferred regulatory mutation. The BRCA1 gene is expressed in numerous tissues, including breast and ovary, and encodes a predicted protein of 1863 amino acids. This protein contains a zinc finger domain in its amino-terminal region, but is otherwise unrelated to previously described proteins. Identification of BRCA1 should facilitate early diagnosis of breast and ovarian cancer susceptibility in some individuals as well as a better understanding of breast cancer biology.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Miki, Y -- Swensen, J -- Shattuck-Eidens, D -- Futreal, P A -- Harshman, K -- Tavtigian, S -- Liu, Q -- Cochran, C -- Bennett, L M -- Ding, W -- CA-48711/CA/NCI NIH HHS/ -- CA-54936/CA/NCI NIH HHS/ -- CA-55914/CA/NCI NIH HHS/ -- etc. -- New York, N.Y. -- Science. 1994 Oct 7;266(5182):66-71.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Medical Informatics, University of Utah Medical Center, Salt Lake City 84132.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/7545954" target="_blank"〉PubMed〈/a〉
    Schlagwort(e): Alleles ; Alternative Splicing ; Amino Acid Sequence ; Animals ; BRCA1 Protein ; Breast Neoplasms/*genetics ; *Chromosomes, Human, Pair 17 ; Female ; *Genes, Tumor Suppressor ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Haplotypes ; Humans ; Lod Score ; Male ; Molecular Sequence Data ; *Mutation ; Neoplasm Proteins/chemistry/*genetics/physiology ; Ovarian Neoplasms/*genetics ; Pedigree ; Phenotype ; Transcription Factors/chemistry/*genetics/physiology ; Zinc Fingers
    Print ISSN: 0036-8075
    Digitale ISSN: 1095-9203
    Thema: Biologie , Chemie und Pharmazie , Informatik , Medizin , Allgemeine Naturwissenschaft , Physik
    Publiziert von American Association for the Advancement of Science (AAAS)
    Standort Signatur Erwartet Verfügbarkeit
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