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  • Inorganic Chemistry  (83,671)
  • Humans  (20,066)
  • Genetics
  • Wiley-Blackwell  (85,893)
  • American Association for the Advancement of Science (AAAS)  (20,148)
  • Frontiers Media SA  (23)
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  • 1
    Publication Date: 2023-12-21
    Description: Developing novel and more effective treatments that improve quality of life for individuals with autism spectrum disorders is urgently needed. To date a wide range of behavioral interventions have been shown to be safe and effective for improving language and cognition and adaptive behavior in children and adolescents with ASD. However many people with ASD can receive additional benefit from targeted pharmacological interventions. One of the major drawback in setting up therapeutics intervention is the remarkable individual differences found across individuals with ASD. As a matter of fact the medications that are currently available address only symptoms associated with ASD and not the core domains of social and communication dysfunction. The pathogenesis paradigm shift of ASD towards synaptic abnormalities moved the research to pathway to disease that involve multiple systems and that are becoming the forefront of ASD treatment and are pointing toward the development of new targeted treatments. Some new therapeutics have been tested and others are being studied. In this context single gene disorders frequently associated with ASD such as Rett Syndrome, Fragile X and Tuberous Sclerosis have been of significant aid as neurobiology of these disorders is more clear and has a potential to shed light on the altered signaling in ASD. However much research is needed to further understand the basic mechanisms of disease and the relationship to idiopathic ASD. Clinical trials in children are underway with agents directed to core symptoms and to the associated disorders in the search of new therapeutics and progress are expected with possible new option for therapeutics in ASD in the upcoming future. Children and Adolescents with ASD and their families can provide important information about their experience with new treatments and this should be a priority for future research. In addition, research performed on genetic mouse models of ASD will keep on providing useful information on the molecular pathways disrupted in the disease, thus contributing to identify novel drug targets.
    Keywords: R5-920 ; RJ1-570 ; Clinical Trial ; mouse model ; neurodevelopmental disorder ; Genetics ; autism ; bic Book Industry Communication::M Medicine
    Language: English
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  • 2
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords:  Viruses ; Genetics ; Host-virus interaction ; Epidemiology ; Immunity ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 3
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    Frontiers Media SA
    Publication Date: 2024-03-31
    Description: Echolocation has evolved in different groups of animals, from bats and cetaceans to birds and humans, and enables localization and tracking of objects in a dynamic environment, where light levels may be very low or absent. Nature has shaped echolocation, an active sense that engages audiomotor feedback systems, which operates in diverse environments and situations. Echolocation production and perception vary across species, and signals are often adapted to the environment and task. In the last several decades, researchers have been studying the echolocation behavior of animals, both in the air and underwater, using different methodologies and perspectives. The result of these studies has led to rich knowledge on sound production mechanisms, directionality of the sound beam, signal design, echo reception and perception. Active control over echolocation signal production and the mechanisms for echo processing ultimately provide animals with an echoic scene or image of their surroundings. Sonar signal features directly influence the information available for the echolocating animal to perceive images of its environment. In many echolocating animals, the information processed through echoes elicits a reaction in motor systems, including adjustments in subsequent echolocation signals. We are interested in understanding how echolocating animals deal with different environments (e.g. clutter, light levels), tasks, distance to targets or objects, different prey types or other food sources, presence of conspecifics or certain predators, ambient and anthropogenic noise. In recent years, some researchers have presented new data on the origins of echolocation, which can provide a hint of its evolution. Theoreticians have addressed several issues that bear on echolocation systems, such as frequency or time resolution, target localization and beam-forming mechanisms. In this Research Topic we compiled recent work that elucidates how echolocation – from sound production, through echolocation signals to perception- has been shaped by nature functioning in different environments and situations. We strongly encouraged comparative approaches that would deepen our understanding of the processes comprising this active sense.
    Keywords: QP1-981 ; Q1-390 ; bats ; Biosonar ; Humans ; marine mammals ; sensory biology ; Birds ; Behavior ; Communication ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFG Physiology
    Language: English
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  • 4
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: The Frontiers in Chemistry Editorial Office team are delighted to present the inaugural “Frontiers in Chemistry: Rising Stars” article collection, showcasing the high-quality work of internationally recognized researchers in the early stages of their independent careers. All Rising Star researchers featured within this collection were individually nominated by the Journal’s Chief Editors in recognition of their potential to influence the future directions in their respective fields. The work presented here highlights the diversity of research performed across the entire breadth of the chemical sciences, and presents advances in theory, experiment and methodology with applications to compelling problems. This Editorial features the corresponding author(s) of each paper published within this important collection, ordered by section alphabetically, highlighting them as the great researchers of the future. The Frontiers in Chemistry Editorial Office team would like to thank each researcher who contributed their work to this collection. We would also like to personally thank our Chief Editors for their exemplary leadership of this article collection; their strong support and passion for this important, community-driven collection has ensured its success and global impact.
    Keywords: Green and Sustainable Chemistry ; Analytical Chemistry ; Theoretical and Computational Chemistry ; Polymer Chemistry ; Medicinal and Pharmaceutical Chemistry ; Organic Chemistry ; Nanoscience ; Catalysis and Photocatalysis ; Supramolecular Chemistry ; Electrochemistry ; Inorganic Chemistry ; Chemical Biology ; thema EDItEUR::P Mathematics and Science::PD Science: general issues
    Language: English
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  • 5
    Publication Date: 2024-04-05
    Description: Attachment is a biologically emotion regulation based system guiding cognitive and emotional processes with respect to intimate and significant relationships. Secure relationships promote infants’ exploration of the world and expand their mastery of the environment. Adverse attachment experiences like, maltreatment, loss, and separation have long been known to have enduring unfavorable effects on human mental health. Research on the neurobiological basis of attachment started with animal studies focusing on emotional deprivation and its behavioral, molecular and endocrine consequences. The present book presents an interdisciplinary synthesis of existing knowledge and new perspectives on the human neuroscience of attachment, showing the tremendous development of this field. The following chapters include innovative studies that are representative of the broad spectrum of current approaches. These involve both differing neurobiological types of substrates using measures like fMRI, EEG, psychophysiology, endocrine parameters, and genetic polymorphisms, as well as psychometric approaches to classify attachment patterns in individuals. The findings we have acquired in the meanwhile on the neural substrates of attachment in healthy subjects lay the foundation of studies with clinical groups. The final section of the book addresses evidence on changes in the functioning of these neural substrates in psychopathology.
    Keywords: RC321-571 ; Q1-390 ; fMRI ; Neuroscience ; social cognition ; Brain activity ; EEG ; Genetics ; Attachment ; Attachment representation ; Psychopathology ; Neurophysiology ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
    Language: English
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  • 6
    Publication Date: 2023-12-21
    Description: It has not been yet clarified whether allergy and asthma are part of the same condition or they follow a parallel path. This Research Topic aims to try and put some light in this parallel march going through crucial topics: from prenatal events to later risk factors such as obesity; and from basic immunology to immunotherapy, both subcutaneous and sublingual. We hope the readers can infer their own conclusions as what is first: egg or chicken.
    Keywords: R5-920 ; RJ1-570 ; Allergy ; Obesity ; Food allergy ; Oxidative stress ; Mediterranean diet ; Immunotherapy ; Genetics ; Epidemiology ; Asthma ; Atopy ; bic Book Industry Communication::M Medicine
    Language: English
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  • 7
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    Frontiers Media SA
    Publication Date: 2024-03-30
    Description: In the ancient past, cocoa has been appreciated as a high-calorie food to boost energy in soldiers and for its undefined medicinal and mystical properties. During other times, chocolate has been considered as the forbidden “food of God”: a treasure of pleasure for the mind and the soul. The overall perception of the consumer for chocolate was of a “charming” and appealing food with lots of negative aspects related to high sugar content leading to consider chocolate as “junk food” for its “obesigen” calories. Recently, in association with the renewed interest of nutrition science in alternative source of health-promoting foods and ingredients, a large body of research has been conducted to unravel the pro and cons of cocoa in relation to human health. Epidemiological evidences indicate that cocoa consumption helps preventing cardiovascular disease for its high content in bioactive flavonoids. Clinical trials show that chocolate consumption might improve vascular function, decreasing platelet aggregation and display an antioxidant and anti-inflammatory effect. The putative protective action of cocoa seems to be multi-factorial and involving different aspects of vascular, antioxidant and endothelial function. However, the mechanism(s) that account for the benefits of cocoa it is still unclear. The aim of this Research Topic is therefore to provide the reader with an objective picture of the state of art on the association between cocoa and health, mainly through the evidences of human trials; overwhelmingly considered the golden standard for nutritional science. The Research Topic will cover the analysis of the manufacturing processes of the chocolate and the antioxidant effects in humans as well as the majority of the putative health effects of chocolate and cocoa, such as anti-inflammatory properties, effect on immunity, platelet aggregation, blood pressure, endothelial function and cognitive behavior. Unraveling the functional properties of cocoa will help to understand if the 'food of God' is a primordial gift for the health of mankind.
    Keywords: R5-920 ; RC581-607 ; TX341-641 ; Antioxidants ; Obesity ; Flavonoids ; Humans ; Chocolate ; Blood pressure ; Inflammation ; Cognitive function ; Cocoa ; Immunity
    Language: English
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  • 8
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: Cucurbits ; Molecular Breeding ; Marker-Trait Association ; Genetics ; Translational Genomics ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PST Botany and plant sciences
    Language: English
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  • 9
    Publication Date: 2023-12-21
    Description: Despite continuous progress in the development of anti-viral and anti-bacterial/parasite drugs, the high cost of medicines and the potential for re-infection, especially in high risk groups, suggest that protective vaccines to some of the most dangerous persistent infections are still highly desirable. There are no vaccines available for HIV, HCV and Malaria, and all attempts to make a broadly effective vaccine have failed so far. In this Research Topic we look into why vaccines have failed over the years, and what we have learn from these attempts. Rather than only showing positive results, this issue aims to reflect on failed efforts in vaccine development. Coming to understand our limitations will have theoretical and practical implications for the future development of vaccines to these major global disease burdens.
    Keywords: R5-920 ; RC581-607 ; QR1-502 ; Q1-390 ; influenza ; HIV ; Malaria ; Infectious Disease ; Genetics ; Vaccine ; HCV ; immunology ; bic Book Industry Communication::M Medicine
    Language: English
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  • 10
    Publication Date: 2024-04-05
    Description: This eBook comprises s series of original research and review articles dealing with the anatomical, genetic, and physiological organization of the auditory system from humans to monkeys and mice.
    Keywords: RC321-571 ; Q1-390 ; audition ; monkeys ; gens ; translational ; Humans ; Rodents ; Memory ; Perception ; Physiology ; functional imaging ; Anatomy ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
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  • 11
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: Machine learning ; Genetics ; Bioinformatics ; Feature selection ; Deep learning ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
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  • 12
    Publication Date: 2024-03-29
    Description: Currently, most prevention efforts are framed as universal interventions. However, despite the demonstrated efficacy of many prevention programs, variability in response is the rule with some participants responding very little and others accounting for the bulk of the positive impact of the program. Better understanding the processes associated with better and worse response to prevention is a critical first step in refining and adapting existing programs, or alternatively designing new prevention programs with enhanced outcomes. Because vulnerabilities to substance use, emotional problems, risky sexual behavior and other behavioral problems are influenced by a combination of environmental, genetic, and epigenetic factors, mediated in part through psychological processes (Kreek et al., 2005; Rutter et al., 2006), the study of genetic and epigenetic vulnerability and susceptibility factors provides an important starting point for efforts to address this critical need. A growing body of research on differential genetic susceptibility indicates that efforts to enhance prevention impact may benefit from consideration of the contribution of individualgenetic differences to treatment response (Brody et al., 2013). In addition, the recent expansion of genetic research to include a focus on epigenetic change provides considerable promise for the development of indicated prevention and individually tailored prevention efforts. However, before this promise can be realized, a number of theoretical and practical challenges remain. Thus, through this special section, we provide a foundation for a new era of prevention research in which the principles of prevention science are combined with genomic science. In the current special section we bring together authors to deal with genetic and epigenetically driven processes relevant to depression, substance abuse, and sexual risk taking. Together they comment on, and provide data relevant to, assessment, research and statistical methods, The papers help to inform the development of a new generation of prevention programs that go beyond universal programs and sensitively target key processes while providing greater precision regarding prediction of population-level impact.
    Keywords: BF1-990 ; Q1-390 ; substance use ; translation ; Genetics ; Mental Health ; prevention ; epigenetics ; bic Book Industry Communication::J Society & social sciences::JM Psychology ; thema EDItEUR::J Society and Social Sciences::JM Psychology
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  • 13
    Publication Date: 2024-04-05
    Description: The global population aged over 60 is set to rise dramatically in the coming decades. In many countries, the older population now faces the prospect of spending a quarter of their lives aged over 65, and a significant proportion will have to cope with cognitive decline associated with normal ageing or with dementia disorders. Given that these fundamental demographic changes will pose a significant challenge to health care systems, a detailed understanding of age-related cognitive and neurobiological changes is essential in helping elderly populations maintain cognitive performance. In addition, developing sensitive biomarkers to identify those at risk of developing dementia is crucial for early and effective interventions. To make inferences about the ageing process from the animal model back to the human, rigorous behavioral paradigms must be used to ensure that the same function is being examined across species. Given that similar navigational paradigms can easily be applied to humans and animals, recent years have seen an expansion of studies attempting to bridge the gap between age-related changes in animal and human spatial cognition. These studies begin to suggest that disruptions in spatial computations are among the earliest indicators of impending cognitive decline. In addition, although many animal studies have identified pathological mechanisms with paradigms involving spatial navigation, these mechanisms support many nonspatial cognitive functions as well. As a consequence, a successful characterization of how spatial processing changes in the ageing brain could reveal fundamental effects of cognitive ageing that could inform about general mechanisms underlying decline in perception, mnemonic processing and multisensory integration.
    Keywords: RC321-571 ; Q1-390 ; Neuroscience ; spatial navigation ; Humans ; Aging ; Animal Models ; Dementia ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
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  • 14
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: Genetics ; Disease ; Population Genetics ; Indigenous populations ; GWAS ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::M Medicine and Nursing::MF Pre-clinical medicine: basic sciences::MFN Medical genetics
    Language: English
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  • 15
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: polyploid ; Genetics ; Genomics ; evolution ; Genotype by environment (G × E) ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PST Botany and plant sciences
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  • 16
    Publication Date: 2023-12-21
    Description: Plasticity and dynamism characterize the immune system as a tissue-integrating network with defensive functions. Blood and lymphatic vessel trees constitute the most evident and intuitive physical platform for the development of the net of interactions between immune cells, body tissues and foreign agents. Moreover vessel repair and immune patrolling are intimately linked physiological functions with common evolutionary roots. Not surprisingly variable degrees of vascular inflammation are often detectable in the setting of systemic inflammation and autoimmunity, whereas research in the field of cardiovascular pathology is progressively converging towards the identification of a common inflammatory background. The definition of the role of vascular inflammation in causing, sustaining and/or predicting the development of systemic autoimmunity constitute a challenging, unexplored frontier towards the development of a new generation of treatments and a better patient care.
    Keywords: R5-920 ; RC581-607 ; Autoimmunity ; remodeling ; Vasculitis ; T-Lymphocytes ; Pathogenesis ; Neutrophils ; vascular inflammation ; Genetics ; platelets ; Endothelium ; bic Book Industry Communication::M Medicine
    Language: English
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  • 17
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    Frontiers Media SA
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: Brain ; Neuroscience ; collaboration ; brain imaging ; MRI ; fMRI ; EEG ; Genetics ; imaging genetics ; Software ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
    Language: English
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  • 18
    Publication Date: 2024-04-04
    Description: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact
    Keywords: drugs ; Behavior ; Memory tasks ; pre-clinical ; clinical ; Humans ; Animals ; thema EDItEUR::P Mathematics and Science::PD Science: general issues ; thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKG Pharmacology
    Language: English
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  • 19
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    Frontiers Media SA
    Publication Date: 2024-04-05
    Description: In livestock species, breeding goals are aimed primarily at improvement of production traits. However, there are a number of examples where selection for high production efficiency has resulted in reduced welfare through unfavorable outcomes in health and fitness characteristics. These effects raise questions about what is ethically acceptable in animal breeding. Welfare problems may be experienced when physiological balance is disturbed by genetic selection for high production alone, by a mismatch between the environmental challenges and the range of coping responses available to an animal, or from a mismatch between the animal’s needs and their degree of satisfaction. This may be resolved by either improving the environment to support the animal, but also by providing the animal, through genetic selection, with means to adapt to the production environment. The Standing Committee of the European Convention for the Protection of Animals kept for Farming Purposes emphasizes that breeding goals should include health and welfare. The Farm Animal Welfare Council pleas for a greater emphasis in breeding programs on traits associated with good welfare. However, although breeding goals in most farm animal species have been broadened beyond production traits to include functional traits, behavioral traits are rarely included despite their potential to improve animal production and welfare. It is the goal of the present Research Topic to bring together experimental and theoretical research focusing on the genetics of welfare traits and the possibility to improve animal welfare through selection. This topic presents an overview of the relationship between selection for high production and livestock robustness, examples of improving robustness through the introduction of novel traits in livestock breeding, and a discussion on selection methods to address welfare issues. The discussion on sustainability of breeding practices is very alive today and will remain to be an important part of the debate in the future.
    Keywords: QH426-470 ; Q1-390 ; animal breeding ; livestock improvement ; selection ; livestock production ; Genetics ; welfare ; sustainable agriculture ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical)
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  • 20
    Publication Date: 2024-03-30
    Description: Gilles de la Tourette Syndrome (TS) is a common, albeit severely under-diagnosed, neuropsychiatric disorder that is caused by a complex genetic basis, interacting with environmental factors. High comorbidity rates with other neurodevelopmental disorders such as attention deficit/hyperactivity disorder and obsessive compulsive disorder raise the intriguing hypothesis of a shared etiological background. Abnormalities of corticostriatal-thalamic-cortical circuits (CSTC) and dysfunction of both dopamine and serotonin neurotransmitter systems are assumed to be associated with TS. Recently, multiple lines of evidence also point towards an important role of additional neurotransmitters such as histamine and glutamate. For a very long time, efforts to elucidate the etiology and pathophysiology of TS have been fragmented and hampered by low statistical power. Finally, after more than two decades of active research aiming to identify the etiology and pathophysiology of TS, we are on the verge of a new era, promising exciting and rapid discoveries in the field. Investigators from around the world, representing multiple disciplines and scientific approaches, are joining their efforts in large-scale initiatives supported both by European Union and US National funding agencies, such as the European-funded EMTICS, TACTICS, and TSGeneSEE consortia, the Marie Curie Initial Training Network TS-EUROTRAIN and the European Society for the Study of TS joining forces with the NIH-funded TSAICG, GGRI, and Tic Genetics consortia. Importantly, all these initiatives are supported by TS patient support and advocacy groups. Multiple resources are being consolidated and coming together to serve the study of TS, including large well-characterized patient cohorts, and specialized epidemiological databases, such as the unique resource of the Netherlands Twin Register. This research topic showcases current large-scale collaborative efforts aiming to elucidate the genetic and neurobiological background of TS, through diverse approaches; from genomewide association studies aiming to identify common variants associated to the disorder to neuroimaging studies and animal models. Furthermore, current approaches on the clinical assessment and management of the disorder are presented. Propelled by the gradual availability of large scale TS cohorts, novel methodologies, and importantly, sheer enthusiasm by multiple researchers working together across different countries, the new era of the neurobiology of TS holds the promise to identify novel targets for improved therapies.
    Keywords: R5-920 ; RC321-571 ; RC435-571 ; RJ1-570 ; Q1-390 ; Treatment ; clinical research ; Neurobiology ; Collaborative studies ; Gilles de la Tourette syndrome ; Genetics
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  • 21
    Publication Date: 2024-04-05
    Description: This e-book brings together scholars in both the neurosciences and organizational sciences who have adopted various approaches to study the cognitive mechanisms mediating the social behavior that we see within organizations. Such an approach has been termed by ourselves, and others, as ‘organisational cognitive neuroscience’. In recent years there has been a veritable increase in studies that have explored the cognitive mechanisms driving such behaviors, and much progress has been made in understanding the neural underpinnings of processes such as financial exchange, risk awareness and even leadership. However, while these studies are informative and add to our understanding of human cognition they fall short of providing evidence-based recommendations for practice. Specifically, we address the broader issue of how the neuroscientific study of such core social behaviors can be used to improve the very way that we work. To address these gaps in our understanding the chapters in this book serve as a platform that allows scholars in both the neurosciences and the organizational sciences to highlight the work that spans across these two fields. The consolidation of these two fields also serves to highlight the utility of a singular organizational cognitive neuroscience. This is a fundamentally important outcome of the book as the application of neuroscience to address economically relevant behaviors has seen a variety of fields evolve in their own right, such as neuromarketing, neuroeconomics and so forth. The use of neuro-scientific technologies,in particular fMRI, has indeed led to a bewildering (and somewhat suffocating) proliferation of new approaches, however, the speed of such developments demands that we must proceed carefully with such ventures or risk some fundamental mistakes. The book that you now hold will consolidates these new neuroscience based approaches and in doing so highlight the importance of this approach in helping us to understand human social behavior in general. Taken together the chapters provide a framework for scholars within the neurosciences who wish to explore the further the opportunities that the study of organisational behavior may provide.
    Keywords: RC321-571 ; Q1-390 ; Brain ; Neuroscience ; organisations ; Functional Brain imaging ; Genetics ; neuroeconomics ; neuromarketing ; MEG ; Organisational Cognitive Neuroscience society ; Marketing ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAN Neurosciences
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  • 22
    Publication Date: 2024-04-05
    Description: The 2nd International Conference "Genetics of aging and longevity" took place 22-25 April, 2012 in the main building of Russian Academy of Sciences, Moscow, Russia. Top gerontologists and geneticists from 25 countries around the world discussed the current problems in many areas related to the genetics of longevity and mechanisms of aging. This Research Topic is aimed to provide a collection of articles based on the talks, reports and experimental outcomes related to the topics of the conference: "Epigenetic Changes Associated with Longevity", "Hormones and Aging", "Proximal and Cellular Mechanisms of Aging", "Nutrient Signaling, Stress Resistance and Longevity", "Identifying Longevity Genes by Mutational, QTL and Association Mapping", "Fundamental Biological Processes Central to Aging", "Interventions to Extend Lifespan and Promote Healthy Aging", "Longevity: Meta-Analysis and Informatics Approaches". Participants of the Conference submitted 20 papers belonging to Original Research Papers, Review Articles (Including Mini Reviews), Opinion and Perspective Papers. All of the submitted manuscripts were peer-reviewed by excellent Frontiers Review Editors and prepared for publication by highly efficient Frontiers team, and it is a pleasure to thank them all for their work and dedication.
    Keywords: QH426-470 ; Q1-390 ; Aging ; Genetics ; geroprotectors ; evolution ; epigenetics ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSA Life sciences: general issues::PSAK Genetics (non-medical)
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  • 23
    Publication Date: 2024-04-05
    Description: Why Antibiotic Resistance? The use of antibiotics in human and veterinary medicine may have consequences beyond their intended applications. The “One Health” concept recognizes that the health of humans is connected to the health of animals and the environment. Progress in molecular genetics is facilitating the rapid evaluation of the essentiality of these targets on a genomic scale. In 2015, a group of researchers established the International Conference on Antibiotic Resistance (IC2AR).The primary objective of this meeting is to bring together scientists involved in antibiotic resistance prevention and control. The IC2AR conducted its inaugural world congress in January 2015 at Caparica (Portugal). Antimicrobial resistance presents a significant challenge to scientists in the field of infectious diseases. The full knowledge of how antibiotics resistance is evolving and being transmitted between hosts in different ecosystems is taking on great importance. Necessary action includes research to define the scope of the problem including its various sources. This eBook comprises a series of original research and review articles dealing with the epidemiology of resistance in animal and zoonotic pathogens, mobile elements containing resistance genes, the omics of antimicrobial resistance, emerging antimicrobial resistance mechanisms, control of resistant infections, establishing antimicrobial use and resistance surveillance systems, and alternatives strategies to overcome the problem of antimicrobial resistance worldwide. Gilberto Igrejas, José Luis Capelo and Patrícia Poeta Scientific Committee of IC2AR, February 20th, 2017Why Antibiotic Resistance? The use of antibiotics in human and veterinary medicine may have consequences beyond their intended applications. The “One Health” concept recognizes that the health of humans is connected to the health of animals and the environment. Progress in molecular genetics is facilitating the rapid evaluation of the essentiality of these targets on a genomic scale. In 2015, a group of researchers established the International Conference on Antibiotic Resistance (IC2AR).The primary objective of this meeting is to bring together scientists involved in antibiotic resistance prevention and control. The IC2AR conducted its inaugural world congress in January 2015 at Caparica (Portugal). Antimicrobial resistance presents a significant challenge to scientists in the field of infectious diseases. The full knowledge of how antibiotics resistance is evolving and being transmitted between hosts in different ecosystems is taking on great importance. Necessary action includes research to define the scope of the problem including its various sources. This eBook comprises a series of original research and review articles dealing with the epidemiology of resistance in animal and zoonotic pathogens, mobile elements containing resistance genes, the omics of antimicrobial resistance, emerging antimicrobial resistance mechanisms, control of resistant infections, establishing antimicrobial use and resistance surveillance systems, and alternatives strategies to overcome the problem of antimicrobial resistance worldwide. Gilberto Igrejas, José Luis Capelo and Patrícia Poeta Scientific Committee of IC2AR, February 20th, 2017
    Keywords: QR1-502 ; Q1-390 ; Microbiology ; antimicrobial resistance ; Antibiotic surveillance ; Proteomics ; Genetics ; Infections ; Animal pathogens ; antibiotics ; Epidemiology ; One Health ; thema EDItEUR::P Mathematics and Science::PS Biology, life sciences::PSG Microbiology (non-medical)
    Language: English
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  • 24
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-08-03
    Keywords: Genetics
    Print ISSN: 0036-8075
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    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 25
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-08-17
    Keywords: Genetics
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    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 26
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-09-28
    Description: Developmental enhancers mediate on/off patterns of gene expression in specific cell types at particular stages during metazoan embryogenesis. They typically integrate multiple signals and regulatory determinants to achieve precise spatiotemporal expression. Such enhancers can map quite far—one megabase or more—from the genes they regulate. How remote enhancers relay regulatory information to their target promoters is one of the central mysteries of genome organization and function. A variety of contrasting mechanisms have been proposed over the years, including enhancer tracking, linking, looping, and mobilization to transcription factories. We argue that extreme versions of these mechanisms cannot account for the transcriptional dynamics and precision seen in living cells, tissues, and embryos. We describe emerging evidence for dynamic three-dimensional hubs that combine different elements of the classical models.
    Keywords: Genetics
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  • 27
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-09-28
    Keywords: Genetics
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  • 28
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-09-28
    Description: The classical model of cytosine DNA methylation (the presence of 5-methylcytosine, 5mC) regulation depicts this covalent modification as a stable repressive regulator of promoter activity. However, whole-genome analysis of 5mC reveals widespread tissue- and cell type–specific patterns and pervasive dynamics during mammalian development. Here we review recent findings that delineate 5mC functions in developmental stages and diverse genomic compartments as well as discuss the molecular mechanisms that connect transcriptional regulation and 5mC. Beyond the newly appreciated dynamics, regulatory roles for 5mC have been suggested in new biological contexts, such as learning and memory or aging. The use of new single-cell measurement techniques and precise editing tools will enable functional analyses of 5mC in gene expression, clarifying its role in various biological processes.
    Keywords: Genetics
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  • 29
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-09-28
    Keywords: Genetics
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    Topics: Biology , Chemistry and Pharmacology , Geosciences , Computer Science , Medicine , Natural Sciences in General , Physics
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  • 30
    Publication Date: 2018-09-28
    Description: Although we can increasingly measure transcription, chromatin, methylation, and other aspects of molecular biology at single-cell resolution, most assays survey only one aspect of cellular biology. Here we describe sci-CAR, a combinatorial indexing–based coassay that jointly profiles chromatin accessibility and mRNA (CAR) in each of thousands of single cells. As a proof of concept, we apply sci-CAR to 4825 cells, including a time series of dexamethasone treatment, as well as to 11,296 cells from the adult mouse kidney. With the resulting data, we compare the pseudotemporal dynamics of chromatin accessibility and gene expression, reconstruct the chromatin accessibility profiles of cell types defined by RNA profiles, and link cis-regulatory sites to their target genes on the basis of the covariance of chromatin accessibility and transcription across large numbers of single cells.
    Keywords: Genetics
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  • 31
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-08-10
    Keywords: Genetics
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  • 32
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-09-14
    Keywords: Genetics
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  • 33
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-04-20
    Keywords: Genetics
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  • 34
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-04-20
    Keywords: Genetics
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  • 35
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-04-20
    Keywords: Genetics
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  • 36
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-06-01
    Keywords: Genetics
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  • 37
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-10-26
    Keywords: Genetics
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  • 38
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-11-09
    Keywords: Genetics
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  • 39
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-11-09
    Description: Consumer genomics databases have reached the scale of millions of individuals. Recently, law enforcement authorities have exploited some of these databases to identify suspects via distant familial relatives. Using genomic data of 1.28 million individuals tested with consumer genomics, we investigated the power of this technique. We project that about 60% of the searches for individuals of European descent will result in a third-cousin or closer match, which theoretically allows their identification using demographic identifiers. Moreover, the technique could implicate nearly any U.S. individual of European descent in the near future. We demonstrate that the technique can also identify research participants of a public sequencing project. On the basis of these results, we propose a potential mitigation strategy and policy implications for human subject research.
    Keywords: Genetics
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  • 40
    Publication Date: 2018-07-06
    Description: Current genetic data are equivocal as to whether goat domestication occurred multiple times or was a singular process. We generated genomic data from 83 ancient goats (51 with genome-wide coverage) from Paleolithic to Medieval contexts throughout the Near East. Our findings demonstrate that multiple divergent ancient wild goat sources were domesticated in a dispersed process that resulted in genetically and geographically distinct Neolithic goat populations, echoing contemporaneous human divergence across the region. These early goat populations contributed differently to modern goats in Asia, Africa, and Europe. We also detect early selection for pigmentation, stature, reproduction, milking, and response to dietary change, providing 8000-year-old evidence for human agency in molding genome variation within a partner species.
    Keywords: Genetics
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  • 41
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-06-08
    Keywords: Genetics
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  • 42
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-04-13
    Keywords: Genetics
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  • 43
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-04-13
    Keywords: Genetics
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  • 44
    Publication Date: 2018-04-20
    Description: The genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in whole genomes of 9274 subjects from 2600 families affected by ASD. In a discovery cohort of 829 families, structural variants were depleted within promoters and untranslated regions, and paternally inherited CRE-SVs were preferentially transmitted to affected offspring and not to their unaffected siblings. The association of paternal CRE-SVs was replicated in an independent sample of 1771 families. Our results suggest that rare inherited noncoding variants predispose children to ASD, with differing contributions from each parent.
    Keywords: Genetics
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  • 45
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-03-23
    Keywords: Genetics
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  • 46
    Publication Date: 2018-04-13
    Description: Family trees have vast applications in fields as diverse as genetics, anthropology, and economics. However, the collection of extended family trees is tedious and usually relies on resources with limited geographical scope and complex data usage restrictions. We collected 86 million profiles from publicly available online data shared by genealogy enthusiasts. After extensive cleaning and validation, we obtained population-scale family trees, including a single pedigree of 13 million individuals. We leveraged the data to partition the genetic architecture of human longevity and to provide insights into the geographical dispersion of families. We also report a simple digital procedure to overlay other data sets with our resource.
    Keywords: Genetics
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  • 47
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-06-08
    Keywords: Genetics
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  • 48
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-02-10
    Keywords: Genetics
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  • 49
    Publication Date: 2018-02-10
    Description: The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders—autism, schizophrenia, bipolar disorder, depression, and alcoholism—compared with matched controls. We identified patterns of shared and distinct gene-expression perturbations across these conditions. The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism–based) overlap across disorders, suggesting a substantial causal genetic component. This comprehensive systems-level view of the neurobiological architecture of major neuropsychiatric illness demonstrates pathways of molecular convergence and specificity.
    Keywords: Genetics
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  • 50
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-01-26
    Keywords: Genetics
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  • 51
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-01-26
    Keywords: Genetics
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  • 52
    Publication Date: 2018-01-26
    Description: Sequence variants in the parental genomes that are not transmitted to a child (the proband) are often ignored in genetic studies. Here we show that nontransmitted alleles can affect a child through their impacts on the parents and other relatives, a phenomenon we call "genetic nurture." Using results from a meta-analysis of educational attainment, we find that the polygenic score computed for the nontransmitted alleles of 21,637 probands with at least one parent genotyped has an estimated effect on the educational attainment of the proband that is 29.9% ( P = 1.6 x 10 –14 ) of that of the transmitted polygenic score. Genetic nurturing effects of this polygenic score extend to other traits. Paternal and maternal polygenic scores have similar effects on educational attainment, but mothers contribute more than fathers to nutrition- and heath-related traits.
    Keywords: Genetics
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  • 53
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-03-09
    Description: The faithful inheritance of the epigenome is critical for cells to maintain gene expression programs and cellular identity across cell divisions. We mapped strand-specific DNA methylation after replication forks and show maintenance of the vast majority of the DNA methylome within 20 minutes of replication and inheritance of some hemimethylated CpG dinucleotides (hemiCpGs). Mapping the nascent DNA methylome targeted by each of the three DNA methyltransferases (DNMTs) reveals interactions between DNMTs and substrate daughter cytosines en route to maintenance methylation or hemimethylation. Finally, we show the inheritance of hemiCpGs at short regions flanking CCCTC-binding factor (CTCF)/cohesin binding sites in pluripotent cells. Elimination of hemimethylation causes reduced frequency of chromatin interactions emanating from these sites, suggesting a role for hemimethylation as a stable epigenetic mark regulating CTCF-mediated chromatin interactions.
    Keywords: Genetics
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  • 54
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-03-16
    Keywords: Genetics
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  • 55
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-03-16
    Keywords: Genetics
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  • 56
    Publication Date: 2018-03-16
    Description: Genetic association studies often examine features independently, potentially missing subpopulations with multiple phenotypes that share a single cause. We describe an approach that aggregates phenotypes on the basis of patterns described by Mendelian diseases. We mapped the clinical features of 1204 Mendelian diseases into phenotypes captured from the electronic health record (EHR) and summarized this evidence as phenotype risk scores (PheRSs). In an initial validation, PheRS distinguished cases and controls of five Mendelian diseases. Applying PheRS to 21,701 genotyped individuals uncovered 18 associations between rare variants and phenotypes consistent with Mendelian diseases. In 16 patients, the rare genetic variants were associated with severe outcomes such as organ transplants. PheRS can augment rare-variant interpretation and may identify subsets of patients with distinct genetic causes for common diseases.
    Keywords: Genetics
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  • 57
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2018-03-09
    Keywords: Genetics
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  • 58
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-09-01
    Keywords: Genetics
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  • 59
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-08-18
    Keywords: Genetics
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  • 60
    Publication Date: 2017-09-01
    Description: Copy number mutations implicate excess production of α-synuclein as a possibly causative factor in Parkinson’s disease (PD). Using an unbiased screen targeting endogenous gene expression, we discovered that the β2-adrenoreceptor (β2AR) is a regulator of the α-synuclein gene ( SNCA ). β2AR ligands modulate SNCA transcription through histone 3 lysine 27 acetylation of its promoter and enhancers. Over 11 years of follow-up in 4 million Norwegians, the β2AR agonist salbutamol, a brain-penetrant asthma medication, was associated with reduced risk of developing PD (rate ratio, 0.66; 95% confidence interval, 0.58 to 0.76). Conversely, a β2AR antagonist correlated with increased risk. β2AR activation protected model mice and patient-derived cells. Thus, β2AR is linked to transcription of α-synuclein and risk of PD in a ligand-specific fashion and constitutes a potential target for therapies.
    Keywords: Genetics
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  • 61
    Publication Date: 2017-08-18
    Description: To resolve cellular heterogeneity, we developed a combinatorial indexing strategy to profile the transcriptomes of single cells or nuclei, termed sci-RNA-seq (single-cell combinatorial indexing RNA sequencing). We applied sci-RNA-seq to profile nearly 50,000 cells from the nematode Caenorhabditis elegans at the L2 larval stage, which provided 〉50-fold "shotgun" cellular coverage of its somatic cell composition. From these data, we defined consensus expression profiles for 27 cell types and recovered rare neuronal cell types corresponding to as few as one or two cells in the L2 worm. We integrated these profiles with whole-animal chromatin immunoprecipitation sequencing data to deconvolve the cell type–specific effects of transcription factors. The data generated by sci-RNA-seq constitute a powerful resource for nematode biology and foreshadow similar atlases for other organisms.
    Keywords: Genetics
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  • 62
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-09-01
    Keywords: Genetics
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  • 63
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-09-01
    Keywords: Genetics
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  • 64
    Publication Date: 2017-09-01
    Description: Having the correct number of chromosomes is vital for normal development and health. Sex chromosome trisomy affects 0.1% of the human population and is associated with infertility. We show that during reprogramming to induced pluripotent stem cells (iPSCs), fibroblasts from sterile trisomic XXY and XYY mice lose the extra sex chromosome through a phenomenon we term trisomy-biased chromosome loss (TCL). Resulting euploid XY iPSCs can be differentiated into the male germ cell lineage and functional sperm that can be used in intracytoplasmic sperm injection to produce chromosomally normal, fertile offspring. Sex chromosome loss is comparatively infrequent during mouse XX and XY iPSC generation. TCL also applies to other chromosomes, generating euploid iPSCs from cells of a Down syndrome mouse model. It can also create euploid iPSCs from human trisomic patient fibroblasts. The findings have relevance to overcoming infertility and other trisomic phenotypes.
    Keywords: Genetics
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  • 65
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-02
    Keywords: Genetics
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  • 66
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-16
    Keywords: Genetics
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  • 67
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-02
    Keywords: Genetics
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  • 68
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-02
    Keywords: Genetics
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  • 69
    Publication Date: 2017-06-16
    Description: The mechanistic target of rapamycin complex 1 (mTORC1) is recruited to the lysosome by Rag guanosine triphosphatases (GTPases) and regulates anabolic pathways in response to nutrients. We found that MiT/TFE transcription factors—master regulators of lysosomal and melanosomal biogenesis and autophagy—control mTORC1 lysosomal recruitment and activity by directly regulating the expression of RagD. In mice, this mechanism mediated adaptation to food availability after starvation and physical exercise and played an important role in cancer growth. Up-regulation of MiT/TFE genes in cells and tissues from patients and murine models of renal cell carcinoma, pancreatic ductal adenocarcinoma, and melanoma triggered RagD-mediated mTORC1 induction, resulting in cell hyperproliferation and cancer growth. Thus, this transcriptional regulatory mechanism enables cellular adaptation to nutrient availability and supports the energy-demanding metabolism of cancer cells.
    Keywords: Genetics
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  • 70
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-16
    Keywords: Genetics
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  • 71
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-16
    Keywords: Genetics
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  • 72
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-06-23
    Keywords: Genetics
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  • 73
    Publication Date: 2017-10-06
    Description: The immune system varies in cell types, states, and locations. The complex networks, interactions, and responses of immune cells produce diverse cellular ecosystems composed of multiple cell types, accompanied by genetic diversity in antigen receptors. Within this ecosystem, innate and adaptive immune cells maintain and protect tissue function, integrity, and homeostasis upon changes in functional demands and diverse insults. Characterizing this inherent complexity requires studies at single-cell resolution. Recent advances such as massively parallel single-cell RNA sequencing and sophisticated computational methods are catalyzing a revolution in our understanding of immunology. Here we provide an overview of the state of single-cell genomics methods and an outlook on the use of single-cell techniques to decipher the adaptive and innate components of immunity.
    Keywords: Genetics
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  • 74
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-10-06
    Description: The stereotyped spatial architecture of the brain is both beautiful and fundamentally related to its function, extending from gross morphology to individual neuron types, where soma position, dendritic architecture, and axonal projections determine their roles in functional circuitry. Our understanding of the cell types that make up the brain is rapidly accelerating, driven in particular by recent advances in single-cell transcriptomics. However, understanding brain function, development, and disease will require linking molecular cell types to morphological, physiological, and behavioral correlates. Emerging spatially resolved transcriptomic methods promise to fill this gap by localizing molecularly defined cell types in tissues, with simultaneous detection of morphology, activity, or connectivity. Here, we review the requirements for spatial transcriptomic methods toward these goals, consider the challenges ahead, and describe promising applications.
    Keywords: Genetics
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  • 75
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-10-06
    Description: Single-cell multi-omics has recently emerged as a powerful technology by which different layers of genomic output—and hence cell identity and function—can be recorded simultaneously. Integrating various components of the epigenome into multi-omics measurements allows for studying cellular heterogeneity at different time scales and for discovering new layers of molecular connectivity between the genome and its functional output. Measurements that are increasingly available range from those that identify transcription factor occupancy and initiation of transcription to long-lasting and heritable epigenetic marks such as DNA methylation. Together with techniques in which cell lineage is recorded, this multilayered information will provide insights into a cell’s past history and its future potential. This will allow new levels of understanding of cell fate decisions, identity, and function in normal development, physiology, and disease.
    Keywords: Genetics
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  • 76
    Publication Date: 2017-11-17
    Description: Small RNAs (sRNAs) regulate genes in plants and animals. Here, we show that population-wide differences in color patterns in snapdragon flowers are caused by an inverted duplication that generates sRNAs. The complexity and size of the transcripts indicate that the duplication represents an intermediate on the pathway to microRNA evolution. The sRNAs repress a pigment biosynthesis gene, creating a yellow highlight at the site of pollinator entry. The inverted duplication exhibits steep clines in allele frequency in a natural hybrid zone, showing that the allele is under selection. Thus, regulatory interactions of evolutionarily recent sRNAs can be acted upon by selection and contribute to the evolution of phenotypic diversity.
    Keywords: Genetics
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  • 77
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-11-17
    Keywords: Genetics
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  • 78
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-12-22
    Keywords: Genetics
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  • 79
    Publication Date: 2017-12-22
    Description: Puccinia graminis f. sp. tritici ( Pgt ) causes wheat stem rust, a devastating fungal disease. The Sr35 resistance gene confers immunity against this pathogen’s most virulent races, including Ug99. We used comparative whole-genome sequencing of chemically mutagenized and natural Pgt isolates to identify a fungal gene named AvrSr35 that is required for Sr35 avirulence. The AvrSr35 gene encodes a secreted protein capable of interacting with Sr35 and triggering the immune response. We show that the origin of Pgt isolates virulent on Sr35 is associated with the nonfunctionalization of the AvrSr35 gene by the insertion of a mobile element. The discovery of AvrSr35 provides a new tool for Pgt surveillance, identification of host susceptibility targets, and characterization of the molecular determinants of immunity in wheat.
    Keywords: Genetics
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  • 80
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-05-12
    Keywords: Genetics
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  • 81
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-04-28
    Keywords: Genetics
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  • 82
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-04-28
    Keywords: Genetics
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  • 83
    Publication Date: 2017-04-28
    Description: The genomic changes underlying both early and late stages of horse domestication remain largely unknown. We examined the genomes of 14 early domestic horses from the Bronze and Iron Ages, dating to between ~4.1 and 2.3 thousand years before present. We find early domestication selection patterns supporting the neural crest hypothesis, which provides a unified developmental origin for common domestic traits. Within the past 2.3 thousand years, horses lost genetic diversity and archaic DNA tracts introgressed from a now-extinct lineage. They accumulated deleterious mutations later than expected under the cost-of-domestication hypothesis, probably because of breeding from limited numbers of stallions. We also reveal that Iron Age Scythian steppe nomads implemented breeding strategies involving no detectable inbreeding and selection for coat-color variation and robust forelimbs.
    Keywords: Genetics
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  • 84
    Publication Date: 2017-05-05
    Description: Bantu languages are spoken by about 310 million Africans, yet the genetic history of Bantu-speaking populations remains largely unexplored. We generated genomic data for 1318 individuals from 35 populations in western central Africa, where Bantu languages originated. We found that early Bantu speakers first moved southward, through the equatorial rainforest, before spreading toward eastern and southern Africa. We also found that genetic adaptation of Bantu speakers was facilitated by admixture with local populations, particularly for the HLA and LCT loci. Finally, we identified a major contribution of western central African Bantu speakers to the ancestry of African Americans, whose genomes present no strong signals of natural selection. Together, these results highlight the contribution of Bantu-speaking peoples to the complex genetic history of Africans and African Americans.
    Keywords: Genetics
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  • 85
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-05-05
    Keywords: Genetics
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  • 86
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-05-05
    Keywords: Genetics
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  • 87
    Publication Date: 2017-05-05
    Description: Negative selection against deleterious alleles produced by mutation influences within-population variation as the most pervasive form of natural selection. However, it is not known whether deleterious alleles affect fitness independently, so that cumulative fitness loss depends exponentially on the number of deleterious alleles, or synergistically, so that each additional deleterious allele results in a larger decrease in relative fitness. Negative selection with synergistic epistasis should produce negative linkage disequilibrium between deleterious alleles and, therefore, an underdispersed distribution of the number of deleterious alleles in the genome. Indeed, we detected underdispersion of the number of rare loss-of-function alleles in eight independent data sets from human and fly populations. Thus, selection against rare protein-disrupting alleles is characterized by synergistic epistasis, which may explain how human and fly populations persist despite high genomic mutation rates.
    Keywords: Genetics
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  • 88
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-05-05
    Keywords: Genetics
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  • 89
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-02-10
    Description: Author: Jake Yeston
    Keywords: Inorganic Chemistry
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  • 90
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-04-01
    Description: Author: Beverly A. Purnell
    Keywords: Genetics
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  • 91
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-01-27
    Description: Author: Jake Yeston
    Keywords: Inorganic Chemistry
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  • 92
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-12-08
    Keywords: Genetics
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  • 93
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-07-07
    Keywords: Genetics
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  • 94
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2017-01-27
    Description: Polynitrogens have the potential for ultrahigh-performing explosives or propellants because singly or doubly bonded polynitrogens can decompose to triply bonded dinitrogen (N2) with an extraordinarily large energy release. The large energy content and relatively low activation energy toward decomposition makes the synthesis of a stable polynitrogen allotrope an extraordinary challenge. Many elements exist in different forms (allotropes)—for example, carbon can exist as graphite, diamond, buckyballs, or graphene. However, no stable neutral allotropes are known for nitrogen, and only two stable homonuclear polynitrogen ions had been isolated until now—namely, the N3− anion (1) and the N5+ cation (2). On page 374 of this issue, Zhang et al. (3) report the synthesis and characterization of the first stable salt of the cyclo-N5− anion, only the third stable homonuclear polynitrogen ion ever isolated. Author: Karl O. Christe
    Keywords: Inorganic Chemistry
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  • 95
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2016-07-22
    Description: The vast majority of genes in sexually reproducing eukaryotes can recombine during the production of gametes. This reshuffling generates new genotypes that may provide selective advantages. However, reshuffling does not occur among the few genes in the genomes of cytoplasmic organelles (chloroplasts and mitochondria). Instead, these organelles are almost always transmitted through maternal inheritance (1). Why is this phenomenon widespread and how is it achieved? On page 394 of this issue, Zhou et al. (2) solve part of this puzzle by identifying the enzyme that degrades sperm mitochondrial DNA after fertilization. Author: Alexander M. van der Bliek
    Keywords: Genetics
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  • 96
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2016-03-25
    Description: Author: Laura M. Zahn
    Keywords: Genetics
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  • 97
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2016-06-17
    Description: "This missing science of heredity … is, in simple truth, ten times more important to humanity than all the chemistry and physics, all the technical and industrial science that ever has been or ever will be discovered," wrote H. G. Wells in 1903. Having dedicated more than 500 pages to the topic in his new book, The Gene, Siddhartha Mukherjee would seem to agree. The book examines human genetics, from its philosophical roots in the work of Aristotle, through Gregor Mendel's garden and Thomas Hunt Morgan's work on fruitflies, and including active work in genome editing. Author: Michael A. Goldman
    Keywords: Genetics
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  • 98
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    American Association for the Advancement of Science (AAAS)
    In: Science
    Publication Date: 2016-03-04
    Description: Changes in gene regulatory networks (GRNs) underlie many phenotypic differences between species. However, the mechanisms of GRN evolution are still being debated (1–5). Explaining how GRNs originate, diversify, and maintain their identities despite regulatory element turnover is essential for developing mechanistic explanations for the origin, diversification, and conservation of homologous characters between species. Among the major outstanding questions in GRN evolution is whether individual cis-regulatory elements arise de novo through the gradual accumulation of mutations that increase the regulatory potential of existing DNA or whether cis-regulatory elements originate more rapidly through concerted processes. On page 1083 of this issue, Chuong et al. provide evidence that concerted processes, involving endogenous retroviruses (ERVs), which are remarkably abundant in mammalian genomes, have contributed to the evolution of the regulatory systems that control the mammalian immune system (6). Author: Vincent J. Lynch
    Keywords: Genetics
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  • 99
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    American Association for the Advancement of Science (AAAS)
    Publication Date: 2016-01-20
    Description: 〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Haddad, Nick M -- New York, N.Y. -- Science. 2015 Dec 4;350(6265):1166-7. doi: 10.1126/science.aad5072.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Applied Ecology, North Carolina State University, Raleigh, NC 27695, USA. nick_haddad@ncsu.ed.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26785459" target="_blank"〉PubMed〈/a〉
    Keywords: Brazil ; *Conservation of Natural Resources ; Humans ; *Transportation
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  • 100
    Publication Date: 2016-01-20
    Description: Telomeres are the protective end-complexes at the termini of eukaryotic chromosomes. Telomere attrition can lead to potentially maladaptive cellular changes, block cell division, and interfere with tissue replenishment. Recent advances in the understanding of human disease processes have clarified the roles of telomere biology, especially in diseases of human aging and in some aging-related processes. Greater overall telomere attrition predicts mortality and aging-related diseases in inherited telomere syndrome patients, and also in general human cohorts. However, genetically caused variations in telomere maintenance either raise or lower risks and progression of cancers, in a highly cancer type-specific fashion. Telomere maintenance is determined by genetic factors and is also cumulatively shaped by nongenetic influences throughout human life; both can interact. These and other recent findings highlight both causal and potentiating roles for telomere attrition in human diseases.〈br /〉〈span class="detail_caption"〉Notes: 〈/span〉Blackburn, Elizabeth H -- Epel, Elissa S -- Lin, Jue -- CA096840/CA/NCI NIH HHS/ -- GM026259/GM/NIGMS NIH HHS/ -- New York, N.Y. -- Science. 2015 Dec 4;350(6265):1193-8. doi: 10.1126/science.aab3389.〈br /〉〈span class="detail_caption"〉Author address: 〈/span〉Department of Biochemistry and Biophysics, University of California, San Francisco, CA 94143, USA. elizabeth.blackburn@ucsf.edu. ; Department of Psychiatry, University of California, San Francisco, CA 94143, USA. ; Department of Biochemistry and Biophysics, University of California, San Francisco, CA 94143, USA.〈br /〉〈span class="detail_caption"〉Record origin:〈/span〉 〈a href="http://www.ncbi.nlm.nih.gov/pubmed/26785477" target="_blank"〉PubMed〈/a〉
    Keywords: Aging/*genetics ; Cell Division/genetics ; Disease/*genetics ; *Genetic Predisposition to Disease ; Humans ; Life Style ; Neoplasms/genetics ; Stress, Physiological ; Telomerase/metabolism ; Telomere/chemistry/*physiology/ultrastructure ; Telomere Homeostasis/*genetics
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