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  • 1
    Keywords: Medicine ; Human Genetics ; Public Health ; Epidemiology ; Bioinformatics ; Biomedicine ; Human Genetics ; Computational Biology/Bioinformatics ; Public Health/Gesundheitswesen ; Epidemiology ; Springer eBooks
    Pages: : digital
    ISBN: 9781441914828
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  • 2
    Keywords: Medicine ; Human Genetics ; Public Health ; Epidemiology ; Bioinformatics ; Biochemistry ; Biomedicine ; Human Genetics ; Epidemiology ; Biochemistry, general ; Computational Biology/Bioinformatics ; Public Health ; Springer eBooks
    Description / Table of Contents: Introduction -- 1. Toward new tools -- 2. Models of development -- 3. Groupoid symmetries -- 4. Epigenetic catalysis -- 5. Developmental disorders -- 6. An interim perspective -- 7. The obesity pandemic in the US -- 8. Coronary heart disease in the US. - 9. Cancer: a developmental perspective -- 10. Autoimmune disorders -- 11. Demoralization and obesity in Upper Manhattan -- 12. Death at an early age: AIDS and related mortality in New York City -- 13. Mental Disorders I: Western atomism and its culture-bound syndromes -- 14. Mental Disorders II: Psychopathology and sleep -- 15. Diabetes and Thyroid Cancer in Manhattan's Chinatown -- 16. Right-To-Work Laws and Alzheimer's Disease -- 17. Stress as an Environmental Exposure -- 18. Final Thoughts -- 19. Mathematical Appendix
    Abstract: This book describes how epigenetic context, in a large sense, affects gene expression and the development of an organism, using the asymptotic limit theorems of information theory to construct statistical models useful in data analysis. The approach allows deep understanding of how embedding context affects development. We find that epigenetic information sources act as tunable catalysts, directing ontogeny into characteristic pathways, a perspective having important implications for epigenetic epidemiology. In sum, environmental stressors can induce a broad spectrum of developmental dysfunctions, and the book explores a number of pandemic chronic diseases, using U.S. data at different scales and levels of organization. In particular, we find the legacy of slavery has been grossly compounded by accelerating industrial decline and urban decay. Individual chapters are dedicated to obesity and its sequelae, coronary heart disease, cancer, mental disorders, autoimmune dysfunction, Alzheimer’s disease, and other conditions. Developmental disorders are driven by environmental factors channeled by historical trajectory and are unlikely to respond to medical interventions at the population level in the face of persistent individual and community stress. Drugs powerful enough to affect deleterious epigenetic programming will likely have side effects leading to shortened lifespan. Addressing chronic conditions and developmental disorders requires significant large-scale changes in public policy and resource allocation
    Pages: XIII, 344 p. 52 illus. : online resource.
    Edition: 2nd ed. 2017.
    ISBN: 9783319480787
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  • 3
    Keywords: Popular works ; Gene Expression ; Evolutionary Biology ; Medicine ; Health ; Popular Science ; Popular Life Sciences ; Evolutionary Biology ; Popular Science in Medicine and Health ; Gene Expression ; Springer eBooks
    Description / Table of Contents: Preface -- Part I: The Novel -- Part II: The Science behind the fiction
    Abstract: Genetics professor Michelle Murphy loses her husband under mysterious circumstances and without warning, while their brilliant eight-year-old daughter Avalon, adopted in Kazakhstan, stubbornly believes she is a mutant. As if this were not enough, she soon finds herself thrown into the middle of a quickly thickening plot, where the legacy of Genghis Khan meets the hunt for FOXP5, a genetic transcription factor that could herald the dawn of new human species. Initially caught helplessly between well-meaning fellow scientists, the government, and more sinister agents, Michelle eventually takes control with the help of a host of unlikely heroes and finds the courage to confront the decision of whether to save human lives or humanity. The scientific and technical aspects underlying the plot – in particular aspects of FOX proteins, genetic mutations, viruses, and cancer as well as the relation between intelligence and cortical complexity – are introduced and discussed by the authors in an extensive, non-technical appendix. Science writer Wallace Kaufman’s work has appeared in major magazines and newspapers in the U.S., England, and Kazakhstan. After Duke University he earned an M.Litt. from Oxford. His writing has taken him to Central and South America, to European Russia and the coasts of Siberia. He worked in most of Central Asia and served as resident adviser on housing and land reform in Kazakhstan. His books include Invasive Plants: Guide to Identification and the Impacts and Control of Common North American Species (2nd edition, 2013), Coming Out of the Woods - A Memoir (2001), No Turning Back (1994), and The Beaches Are Moving: The Drowning of America's Shoreline, (1979/1983). David Deamer is a Research Professor of Biomolecular Engineering at the University of California, Santa Cruz. He recently published First Life: Discovering the Connections between Stars, Cells, and How Life Began (2011). Deamer's research concerns molecular self-assembly processes related to the origin and evolution of membrane structure. Over the past 25 years, he has been engaged in developing nanoscopic pores in lipid bilayers as a way to sequence DNA. This work came to fruition in 2015 when the first portable nanopore sequencing device was successfully tested by early users
    Pages: VII, 251 p. 1 illus. in color. : online resource.
    ISBN: 9783319289618
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  • 4
    Keywords: Life sciences ; Human Genetics ; Psychiatry ; Systems Biology ; Life sciences ; Systems Biology ; Human Genetics ; Psychiatry ; Springer eBooks
    Description / Table of Contents: Consciousness, Crosstalk, and the Mereological Fallacy -- A Cognitive Paradigm for Gene Expression -- Western Atomism and its Culture-Bound Syndromes -- Environmental Induction of Neurodevelopmental Disorders -- Sleep, Psychopathology and Culture -- Embodied cognition and its disorders -- Tools for the Future: Hidden Symmetries -- Psychopathologies of automata I: autonomous vehicle systems -- Psychopathologies of automata II: autonomous weapons and centaur systems -- The dynamics of environmental insult -- Social psychopathology: military doctrine and the madness of crowds -- Mathematical Appendix -- Index
    Abstract: This book explores mental disorders from a uniquely evolutionary perspective. Although there have been many attempts to mathematically model neural processes and, to some extent, their dysfunction, there is very little literature that models mental function within a sociocultural, socioeconomic, and environmental context. Addressing this gap in the extant literature, this book explores essential aspects of mental disorders, recognizing the ubiquitous role played by the exaptation of crosstalk between cognitive modules at many different scales and levels of organization, the missing heritability of complex diseases, and cultural epigenetics. Further, it introduces readers to valuable control theory tools that permit the exploration of the environmental induction of neurodevelopmental disorders, as well as the study of the synergism between culture, psychopathology and sleep disorders, offering a distinctively unique resource
    Pages: XII, 236 p. 31 illus. : online resource.
    ISBN: 9783319539102
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  • 5
    Keywords: Otorhinolaryngology ; Neurosciences ; Otorhinolaryngology ; Neurosciences ; Springer eBooks
    Description / Table of Contents: Preface -- Visual Influence on Auditory Perception -- Cue Combination Within a Bayesian Framework -- Toward a Model of Auditory-Visual Speech Intelligibility -- An Object-Based Interpretation of Audiovisual Processing -- Hearing in a “Moving” Visual World: Coordinate Transformations Along the Auditory Pathway -- Multisensory Processing in the Auditory Cortex -- Audiovisual Integration in the Primate Prefrontal Cortex -- Using Multisensory Integration to Understand the Human Auditory Cortex -- Combining Voice and Face Content in the Primate Temporal Lobe -- Neural Network Dynamics and Audiovisual Integration -- Cross-Modal Learning in the Auditory System -- Multisensory Processing Differences in Individuals with Autism Spectrum Disorder
    Abstract: Auditory behavior, perception, and cognition are all shaped by information from other sensory systems. This volume examines this multi-sensory view of auditory function at levels of analysis ranging from the single neuron to neuroimaging in human clinical populations. Visual Influence on Auditory Perception Adrian K.C. Lee and Mark T. Wallace Cue Combination within a Bayesian Framework David Alais and David Burr Toward a Model of Auditory-Visual Speech Intelligibility Ken W. Grant and Joshua G. W. Bernstein An Object-based Interpretation of Audiovisual Processing Adrian K.C. Lee, Ross K. Maddox, and Jennifer K. Bizley Hearing in a “Moving” Visual World: Coordinate Transformations Along the Auditory Pathway Shawn M. Willett, Jennifer M. Groh, Ross K. Maddox Multisensory Processing in the Auditory Cortex Andrew J. King, Amy Hammond-Kenny, Fernando R. Nodal Audiovisual Integration in the Primate Prefrontal Cortex Bethany Plakke and Lizabeth M. Romanski Using Multisensory Integration to Understand Human Auditory Cortex Michael S. Beauchamp Combining Voice and Face Content in the Primate Temporal Lobe Catherine Perrodin and Christopher I. Petkov Neural Network Dynamics and Audiovisual Integration Julian Keil and Daniel Senkowski Cross-Modal Learning in the Auditory System Patrick Bruns and Brigitte Röder Multisensory Processing Differences in Individuals with Autism Spectrum Disorder Sarah H. Baum Miller, Mark T. Wallace Adrian K.C. Lee is Associate Professor in the Department of Speech & Hearing Sciences and the Institute for Learning and Brain Sciences at the University of Washington, Seattle Mark T. Wallace is the Louise B McGavock Endowed Chair and Professor in the Departments of Hearing and Speech Sciences, Psychiatry, Psychology and Director of the Vanderbilt Brain Institute at Vanderbilt University, Nashville Allison B. Coffin is Associate Professor in the Department of Integrative Physiology and Neuroscience at Washington State University, Vancouver, WA Arthur N. Popper is Professor Emeritus and research professor in the Department of Biology at the University of Maryland, College Park Richard R. Fay is Distinguished Research Professor of Psychology at Loyola University, Chicago
    Pages: XVI, 272 p. 70 illus., 49 illus. in color. : online resource.
    ISBN: 9783030104610
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  • 6
    Unknown
    Dordrecht : Springer Science+Business Media B.V.
    Keywords: Life sciences ; Science (General) ; Agriculture ; Endangered ecosystems ; Environmental management ; Development Economics ; Life sciences ; Agriculture ; Environmental management ; Ecosystems ; Science, general ; Development Economics ; Springer eBooks
    Pages: : digital
    ISBN: 9789400714120
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  • 7
    Keywords: CANCER ; GENOME ; PATHWAYS ; THERAPY ; GENE ; BREAST-CANCER ; prognosis ; MUTATION ; DATABASE ; MUTATIONS ; SOMATIC MUTATIONS ; tumours ; Type ; LANDSCAPES ; MYELOID-LEUKEMIA GENOME ; PROJECT ; CANCER-THERAPY ; MANAGEMENT ; SUBTYPES ; REPERTOIRE ; SCIENCE ; development
    Abstract: The International Cancer Genome Consortium (ICGC) was launched to coordinate large-scale cancer genome studies in tumours from 50 different cancer types and/or subtypes that are of clinical and societal importance across the globe. Systematic studies of more than 25,000 cancer genomes at the genomic, epigenomic and transcriptomic levels will reveal the repertoire of oncogenic mutations, uncover traces of the mutagenic influences, define clinically relevant subtypes for prognosis and therapeutic management, and enable the development of new cancer therapies
    Type of Publication: Miscellaneous publication
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  • 8
    Keywords: EXPRESSION ; POPULATION ; RISK ; GENE ; POLYMORPHISMS ; SCHIZOPHRENIA ; COPY NUMBER ; SNP ; NEURONS ; MENTAL-RETARDATION ; GENOME-WIDE ASSOCIATION ; GLUTAMATE-RECEPTOR-6 GENE ; LINKAGE ANALYSES ; RUNS
    Abstract: Autism spectrum disorder (ASD) is a highly heritable disorder of complex and heterogeneous aetiology. It is primarily characterized by altered cognitive ability including impaired language and communication skills and fundamental deficits in social reciprocity. Despite some notable successes in neuropsychiatric genetics, overall, the high heritability of ASD (round 90%) remains poorly explained by common genetic risk variants. However, recent studies suggest that rare genomic variation, in particular copy number variation, may account for a significant proportion of the genetic basis of ASD. We present a large scale analysis to identify candidate genes which may contain low-frequency recessive variation contributing to ASD while taking into account the potential contribution of population differences to the genetic heterogeneity of ASD. Our strategy, homozygous haplotype (HH) mapping, aims to detect homozygous segments of identical haplotype structure that are shared at a higher frequency amongst ASD patients compared to parental controls. The analysis was performed on 1,402 Autism Genome Project trios genotyped for 1 million single nucleotide polymorphisms (SNPs). We identified 25 known and 1,218 novel ASD candidate genes in the discovery analysis including CADM2, ABHD14A, CHRFAM7A, GRIK2, GRM3, EPHA3, FGF10, KCND2, PDZK1, IMMP2L and FOXP2. Furthermore, 10 of the previously reported ASD genes and 300 of the novel candidates identified in the discovery analysis were replicated in an independent sample of 1,182 trios. Our results demonstrate that regions of HH are significantly enriched for previously reported ASD candidate genes and the observed association is independent of gene size (odds ratio 2.10). Our findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.
    Type of Publication: Journal article published
    PubMed ID: 21996756
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  • 9
    Keywords: GENE ; DELETIONS ; MENTAL-RETARDATION ; LOCI ; GENOME-WIDE ASSOCIATION ; CNTNAP2 ; Copy number variation ; DE-NOVO MUTATIONS ; LINKAGE ANALYSES ; DEVELOPMENTAL DISORDERS
    Abstract: While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm〈 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest.
    Type of Publication: Journal article published
    PubMed ID: 22843504
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  • 10
    Keywords: SPECTRA ; RISK ; GENE ; GENES ; SAMPLES ; COMPLEX ; COMPLEXES ; FAMILY ; ASSOCIATION ; chromosome ; LINKAGE ; NUMBER ; SNP ; HUMAN GENOME ; TWIN ; PREVALENCE ; DISSECTION ; GLUTAMATE ; FAMILIES ; ARRAY ; REARRANGEMENT ; CANDIDATE ; SPECTRUM ; MENTAL-RETARDATION ; LOCI ; NEUROLIGINS ; SPECTRUM DISORDERS
    Abstract: Autism spectrum disorders (ASDs) are common, heritable neurodevelopmental conditions. The genetic architecture of ASDs is complex, requiring large samples to overcome heterogeneity. Here we broaden coverage and sample size relative to other studies of ASDs by using Affymetrix 10K SNP arrays and 1,168 families with at least two affected individuals, performing the largest linkage scan to date while also analyzing copy number variation in these families. Linkage and copy number variation analyses implicate chromosome 11p12-p13 and neurexins, respectively, among other candidate loci. Neurexins team with previously implicated neuroligins for glutamatergic synaptogenesis, highlighting glutamate-related genes as promising candidates for contributing to ASDs
    Type of Publication: Journal article published
    PubMed ID: 17322880
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