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  • 1
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    Monoallelic expression of FOXP2 speech gene [Colloquium Paper] (2015)
    National Academy of Sciences
    Details
    Publication Date: 2015-06-03
    Description: The recent descriptions of widespread random monoallelic expression (RMAE) of genes distributed throughout the autosomal genome indicate that there are more genes subject to RMAE on autosomes than the number of genes on the X chromosome where X-inactivation dictates RMAE of X-linked genes. Several of the autosomal genes that undergo...
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 2
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    Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network (2017)
    Mc; Connell, M. J., Moran, J. V., Abyzov, A., Akbarian, S., Bae, T., Cortes-Ciriano, I., Erwin, J. A., Fasching, L., Flasch, D. A., Freed, D., Ganz, J., Jaffe, A. E., Kwan, K. Y., Kwon, M., Lodato, M. A., Mills, R. E., Paquola, A. C. M., Rodin, R. E., Rosenbluh, C., Sestan, N., Sherman, M. A., Shin, J. H., Song, S., Straub, R. E., Thorpe, J., Weinberger, D. R., Urban, A. E., Zhou, B., Gage, F. H., Lehner, T., Senthil, G., Walsh, C. A., Chess, A., Courchesne, E., Gleeson, J. G., Kidd, J. M., Park, P. J., Pevsner, J., Vaccarino, F. M., Brain Somatic Mosaicism Network, Barton, A. R., Bekiranov, S., Bohrson, C. L., Burbulis, I. E., Chronister, W., Coppola, G., Daily, K., DGama, A. M., Emery, S. B., Frisbie, T. J., Gao, T., Gulyas-Kovacs, A., Haakenson, M., Keil, J. M., Kopera, H. C., Lam, M. M., Lee, E. A., Marques-Bonet, T., Mathern, G. W., Moldovan, J. B., Oetjens, M. T., Omberg, L., Peters, M. A., Pochareddy, S., Pramparo, T., Ratan, A., Sanavia, T., Shi, L., Skarica, M., Wang, J., Wang, M., Wang, Y., Wierman, M., Wolpert, M., Woodworth, M., Zhao, X., Zhou, W.
    American Association for the Advancement of Science (AAAS)
    In: Science
    Details
    Publication Date: 2017-04-28
    Description: Neuropsychiatric disorders have a complex genetic architecture. Human genetic population-based studies have identified numerous heritable sequence and structural genomic variants associated with susceptibility to neuropsychiatric disease. However, these germline variants do not fully account for disease risk. During brain development, progenitor cells undergo billions of cell divisions to generate the ~80 billion neurons in the brain. The failure to accurately repair DNA damage arising during replication, transcription, and cellular metabolism amid this dramatic cellular expansion can lead to somatic mutations. Somatic mutations that alter subsets of neuronal transcriptomes and proteomes can, in turn, affect cell proliferation and survival and lead to neurodevelopmental disorders. The long life span of individual neurons and the direct relationship between neural circuits and behavior suggest that somatic mutations in small populations of neurons can significantly affect individual neurodevelopment. The Brain Somatic Mosaicism Network has been founded to study somatic mosaicism both in neurotypical human brains and in the context of complex neuropsychiatric disorders.
    Keywords: Genetics, Online Only
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 3
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    Long-term effects of a trophic cascade in a large lake ecosystem [Ecology] (2011)
    National Academy of Sciences
    Details
    Publication Date: 2011-01-19
    Description: Introductions or invasions of nonnative organisms can mediate major changes in the trophic structure of aquatic ecosystems. Here we document multitrophic level impacts in a spatially extensive system that played out over more than a century. Positive interactions among exotic vertebrate and invertebrate predators caused a substantial and abrupt shift in community composition resulting in a trophic cascade that extended to primary producers and to a nonaquatic species, the bald eagle. The opossum shrimp, Mysis diluviana, invaded Flathead Lake, Montana, the largest freshwater lake in the western United States. Lake trout had been introduced 80 y prior but remained at low densities until nonnative Mysis became established. The bottom-dwelling mysids eliminated a recruitment bottleneck for lake trout by providing a deep water source of food where little was available previously. Lake trout subsequently flourished on mysids and this voracious piscivore now dominates the lake fishery; formerly abundant kokanee were extirpated, and native bull and westslope cutthroat trout are imperiled. Predation by Mysis shifted zooplankton and phytoplankton community size structure. Bayesian change point analysis of primary productivity (27-y time series) showed a significant step increase of 55 mg C m−2 d−1 (i.e., 21% rise) concurrent with the mysid invasion, but little trend before or after despite increasing nutrient loading. Mysis facilitated predation by lake trout and indirectly caused the collapse of kokanee, redirecting energy flow through the ecosystem that would otherwise have been available to other top predators (bald eagles).
    Print ISSN: 0027-8424
    Electronic ISSN: 1091-6490
    Topics: Biology , Medicine , Natural Sciences in General
    Published by National Academy of Sciences
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  • 4
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    Expansion of the allelic exclusion principle? (1998)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1998-04-16
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Chess, A -- New York, N.Y. -- Science. 1998 Mar 27;279(5359):2067-8.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge, MA 02142, USA. chess@wi.mit.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/9537917" target="_blank"〉PubMed〈/a〉
    Keywords: *Alleles ; Animals ; CD4-Positive T-Lymphocytes/*immunology ; DNA Replication ; *Gene Expression Regulation ; Genes, Immunoglobulin ; Interleukin-2/*genetics ; Lymphocyte Activation ; Mice ; Polymerase Chain Reaction ; Receptors, Antigen, T-Cell/metabolism ; Signal Transduction ; Transcription, Genetic
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 5
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    Widespread monoallelic expression on human autosomes (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-11-17
    Description: Monoallelic expression with random choice between the maternal and paternal alleles defines an unusual class of genes comprising X-inactivated genes and a few autosomal gene families. Using a genome-wide approach, we assessed allele-specific transcription of about 4000 human genes in clonal cell lines and found that more than 300 were subject to random monoallelic expression. For a majority of monoallelic genes, we also observed some clonal lines displaying biallelic expression. Clonal cell lines reflect an independent choice to express the maternal, the paternal, or both alleles for each of these genes. This can lead to differences in expressed protein sequence and to differences in levels of gene expression. Unexpectedly widespread monoallelic expression suggests a mechanism that generates diversity in individual cells and their clonal descendants.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Gimelbrant, Alexander -- Hutchinson, John N -- Thompson, Benjamin R -- Chess, Andrew -- New York, N.Y. -- Science. 2007 Nov 16;318(5853):1136-40.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Simches Research Building, 185 Cambridge Street, Boston, MA 02114, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/18006746" target="_blank"〉PubMed〈/a〉
    Keywords: *Alleles ; Animals ; Apoptosis Regulatory Proteins/genetics ; Calcium-Calmodulin-Dependent Protein Kinases/genetics ; Cell Line ; Clone Cells ; DNA-Binding Proteins/genetics ; Death-Associated Protein Kinases ; Dosage Compensation, Genetic ; Female ; *Gene Expression ; Gene Expression Regulation ; Genetic Predisposition to Disease ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Polymerase Chain Reaction ; Trans-Activators/genetics
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 6
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    Gene body-specific methylation on the active X chromosome (2007)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2007-02-27
    Description: Differential DNA methylation is important for the epigenetic regulation of gene expression. Allele-specific methylation of the inactive X chromosome has been demonstrated at promoter CpG islands, but the overall pattern of methylation on the active X(Xa) and inactive X (Xi) chromosomes is unknown. We performed allele-specific analysis of more than 1000 informative loci along the human X chromosome. The Xa displays more than two times as much allele-specific methylation as Xi. This methylation is concentrated at gene bodies, affecting multiple neighboring CpGs. Before X inactivation, all of these Xa gene body-methylated sites are biallelically methylated. Thus, a bipartite methylation-demethylation program results in Xa-specific hypomethylation at gene promoters and hypermethylation at gene bodies. These results suggest a relationship between global methylation and expression potentiality.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Hellman, Asaf -- Chess, Andrew -- New York, N.Y. -- Science. 2007 Feb 23;315(5815):1141-3.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Center for Human Genetic Research and Department of Medicine, Massachusetts General Hospital, Harvard Medical School, 185 Cambridge Street, Boston, MA 02114, USA. hellman@chgr.mgh.harvard.edu〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17322062" target="_blank"〉PubMed〈/a〉
    Keywords: Alleles ; Cell Line ; Chromosomes, Human, X/*genetics/metabolism ; CpG Islands ; *DNA Methylation ; Embryonic Stem Cells ; Epigenesis, Genetic ; Female ; Gene Expression Regulation ; Gene Silencing ; Heterozygote ; Humans ; Male ; Oligonucleotide Array Sequence Analysis ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; X Chromosome Inactivation
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 7
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    Function of rhodopsin in temperature discrimination in Drosophila (2011)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 2011-03-12
    Description: Many animals, including the fruit fly, are sensitive to small differences in ambient temperature. The ability of Drosophila larvae to choose their ideal temperature (18 degrees C) over other comfortable temperatures (19 degrees to 24 degrees C) depends on a thermosensory signaling pathway that includes a heterotrimeric guanine nucleotide-binding protein (G protein), a phospholipase C, and the transient receptor potential TRPA1 channel. We report that mutation of the gene (ninaE) encoding a classical G protein-coupled receptor (GPCR), Drosophila rhodopsin, eliminates thermotactic discrimination in the comfortable temperature range. This role for rhodopsin in thermotaxis toward 18 degrees C was light-independent. Introduction of mouse melanopsin restored normal thermotactic behavior in ninaE mutant larvae. We propose that rhodopsins represent a class of evolutionarily conserved GPCRs that are required for initiating thermosensory signaling cascades.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Shen, Wei L -- Kwon, Young -- Adegbola, Abidemi A -- Luo, Junjie -- Chess, Andrew -- Montell, Craig -- GM085335/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2011 Mar 11;331(6022):1333-6. doi: 10.1126/science.1198904.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biological Chemistry, Center for Sensory Biology, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/21393546" target="_blank"〉PubMed〈/a〉
    Keywords: Animals ; Drosophila Proteins/genetics/metabolism/*physiology ; Drosophila melanogaster/genetics/*physiology ; Eye Proteins/genetics/*physiology ; Larva/genetics/physiology ; Light ; Mice ; Movement ; Mutation ; Photoreceptor Cells, Invertebrate/physiology ; Receptors, G-Protein-Coupled/genetics/physiology ; Rhodopsin/genetics/*physiology ; Rod Opsins/genetics/physiology ; *Signal Transduction ; TRPC Cation Channels/genetics/metabolism ; Temperature ; *Thermosensing
    Print ISSN: 0036-8075
    Electronic ISSN: 1095-9203
    Topics: Biology , Chemistry and Pharmacology , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 8
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    Conducting Layered Organic-inorganic Halides Containing 〈110〉-Oriented Perovskite Sheets (1995)
    American Association for the Advancement of Science (AAAS)
    Details
    Publication Date: 1995-03-10
    Description: Single crystals of the layered organic-inorganic perovskites, [NH(2)C(I=NH(2)](2)(CH(3)NH(3))m SnmI3m+2, were prepared by an aqueous solution growth technique. In contrast to the recently discovered family, (C(4)H(9)NH(3))(2)(CH(3)NH(3))n-1SnnI3n+1, which consists of (100)-terminated perovskite layers, structure determination reveals an unusual structural class with sets of m 〈110〉-oriented CH(3)NH(3)SnI(3) perovskite sheets separated by iodoformamidinium cations. Whereas the m = 2 compound is semiconducting with a band gap of 0.33 +/- 0.05 electron volt, increasing m leads to more metallic character. The ability to control perovskite sheet orientation through the choice of organic cation demonstrates the flexibility provided by organic-inorganic perovskites and adds an important handle for tailoring and understanding lower dimensional transport in layered perovskites.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Mitzi, D B -- Wang, S -- Feild, C A -- Chess, C A -- Guloy, A M -- New York, N.Y. -- Science. 1995 Mar 10;267(5203):1473-6.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/17743545" 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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