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1. REMOVING A SYNAPTIC CO-CHAPERONE IN ADULTHOOD AFFECTS THE LIFETIMES OF SPECIFIC BRAIN PROTEINS DURING NEURODEGENERATION

Author: Fatima Rubio-Pastor, Alison Ross, Santiago López-Begines, Cristina Mesa-Cruz, Patricia Scholz, Till Ischebeck, Marko Jovanovic, Eugenio Fornasiero, and Rafael Fernández-Chacón
Subjects: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Published: 2023
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2. Understanding the Experience of Canadian Women Living with Ovarian Cancer through the Every Woman StudyTM

Author: Alicia Tone, Talin Boghosian, Alison Ross, Elisabeth Baugh, Alon D. Altman, Lesa Dawson, Frances Reid, and Cailey Crawford
Subjects: ovarian cancer, regional variation, diagnosis, treatment, psychosocial impact, genetic testing, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: The Every Woman StudyTM: Canadian Edition is the most comprehensive study to date exploring patient-reported experiences of ovarian cancer (OC) on a national scale. An online survey conducted in Fall 2020 included individuals diagnosed with OC in Canada, reporting responses from 557 women from 11 Canadian provinces/territories. Median age at diagnosis was 54 (11–80), 61% were diagnosed between 2016–2020, 59% were stage III/IV and all subtypes of OC were represented. Overall, 23% had a family history of OC, 75% had genetic testing and 19% reported having a BRCA1/2 mutation. Most (87%) had symptoms prior to diagnosis. A timely diagnosis of OC (≤3 months from first presentation with symptoms) was predicted by age (>50) or abdominal pain/persistent bloating as the primary symptom. Predictors of an acute diagnosis (
Published: 2022
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3. Advocacy in Action: Leveraging the Power of Patient Voices to Impact Ovarian Cancer Outcomes in Canada

Author: Elisabeth Baugh, Alicia Tone, Talin Boghosian, Alison Ross, and Cailey Crawford
Subjects: ovarian cancer, patient advocacy, research funding, awareness campaign, OvCAN, patient partners in research, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract: Prior to 1997, ovarian cancer (OC) was a ‘poor target’ for patient advocacy. At that time, there were only three OC researchers in Canada, little information available for women diagnosed, and no community of survivors existed. The Corinne Boyer Fund to advance OC was founded in 1997 (later renamed the National Ovarian Cancer Association (NOCA) and subsequently Ovarian Cancer Canada (OCC)), and a Blueprint for Action was established. NOCA developed training programs for public education, partnered with clinicians and scientists, established a Tissue Banking Network across Canada In 2015, the Ladyballs awareness campaign was launched nationally, giving the community a presence and voice. Strategic planning by the organization put advocacy for research funding as a top priority and, working with patients and researchers across the country, petitioned the government for C$10 million in research funding. In 2019, OCC received the funding. In 2020, the OvCAN project was launched with the aim to improve the outcomes of women diagnosed with OC. In the first three years of OvCAN, a pan-Canadian team of 25 Patient Partners was established, and 41 projects to date on research models, pre-clinical and clinical trials covering a wide spectrum of OC types have been funded.
Published: 2022
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4. A Simulation Toolkit for Testing the Sensitivity and Accuracy of Corticometry Pipelines

Author: Mona OmidYeganeh, Najmeh Khalili-Mahani, Patrick Bermudez, Alison Ross, Claude Lepage, Robert D. Vincent, S. Jeon, Lindsay B. Lewis, S. Das, Alex P. Zijdenbos, Pierre Rioux, Reza Adalat, Matthijs C. Van Eede, and Alan C. Evans
Subjects: reproducible neuroimaging, cortical thickness, lesion simulation, pipeline accuracy, brain morphometry, statistical parametric mapping, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
Abstract: In recent years, the replicability of neuroimaging findings has become an important concern to the research community. Neuroimaging pipelines consist of myriad numerical procedures, which can have a cumulative effect on the accuracy of findings. To address this problem, we propose a method for simulating artificial lesions in the brain in order to estimate the sensitivity and specificity of lesion detection, using different automated corticometry pipelines. We have applied this method to different versions of two widely used neuroimaging pipelines (CIVET and FreeSurfer), in terms of coefficients of variation; sensitivity and specificity of detecting lesions in 4 different regions of interest in the cortex, while introducing variations to the lesion size, the blurring kernel used prior to statistical analyses, and different thickness metrics (in CIVET). These variations are tested in a between-subject design (in two random groups, with and without lesions, using T1-weigted MRIs of 152 individuals from the International Consortium of Brain Mapping (ICBM) dataset) and in a within-subject pre-/post-lesion design [using 21 T1-Weighted MRIs of a single adult individual, scanned in the Infant Brain Imaging Study (IBIS)]. The simulation method is sensitive to partial volume effect and lesion size. Comparisons between pipelines illustrate the ability of this method to uncover differences in sensitivity and specificity of lesion detection. We propose that this method be adopted in the workflow of software development and release.
Published: 2021
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5. Acting Through Inaction: The Distinction Between Leisure and Reverie in Jacques Rancière’s Conception of Emancipation

Author: Alison Ross
Subjects: rancière, critical theory, aristotle, theories of work, the work/leisure distinction, states of reverie, dreams, action, disengagement of the will, emancipatory experiences, Philosophy (General), B1-5802
Abstract: The classical distinction between leisure and work is often used to define features of the emancipated life. In Aristotle leisure is defined as time devoted to purposeful activity, and distinguished from the labour time expended merely to produce life’s necessities. In critical theory, this classical distinction has been adapted to provide an image of emancipated life, as purposively driven, fulfilling and meaningful activity. Aspects of this adapted definition undermine the classical leisure/work distinction to the extent that the demand for meaningful work, i.e., a leisure-work conjunction, is now used as a critical perspective on unfulfilling, oppressive labour. Rancière, however, is critical both of this idea of an extended franchise for leisure and of its dependence on craft and artisanal labour as the model of satisfying, skilled work. Instead of Aristotelian leisure, or ‘fulfilling’ work, Rancière identifies in the state of reverie an alternative marker for the emancipated life. The theme is consistent across the scattered archival, historiographical, philosophical, literary and aesthetic contexts his writing treats. But since reverie is defined as disengagement from action, the position raises a number of difficulties. This article examines how Rancière connects reverie to emancipation. It focuses on two questions: the nature of the relation between his definition of reverie and the classical, Aristotelian concept of action; and, whether, given the constitutive non-relation between reverie and action that he outlines, Rancière’s position can address the persistent problem in critical theory of the motivation for the emancipated life. It is argued that his highlighting of the potential communicative significance of modes and scenes of emancipated life is relevant to this problem. The key argument is that rather than developing a ‘theory’, his approach to emancipation focuses on and values communicable experiences of emancipation, and that states of reverie are one such type of valued experience.
Published: 2019
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6. 'At 80 I Know Myself': Embodied Learning and Older Adults’ Experiences of Polypharmacy and Perceptions of Deprescribing

Author: Alison Ross PhD and James Gillett PhD
Subjects: Geriatrics, RC952-954.6
Abstract: In response to the risks of polypharmacy for older adults, there are increasing calls for the development and implementation of deprescribing programs. This article examines the forms of expertise that inform older adults’ decisions about how to use medications given concerns over polypharmacy and a clinical focus on deprescribing. In-depth interviews with older adults found that diverse knowledge sources underpin decisions regarding polypharmacy and deprescribing. Findings indicate that this knowledge is formed through a lifetime of embodied learning—the production of relevant knowledge through lived experiences of the body. By way of this embodied learning, older adults possess individualized knowledge bases that inform health and health care decisions, especially regarding the use of medications. If deprescribing programs are to be embedded into standard preventive medical care of older adults, then it is valuable for health care providers to be aware of and take seriously the contribution of embodied knowledge.
Published: 2019
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7. Walter Benjamin’s idea of revolution: The fulfilled wish in historical perspective

Author: Alison Ross
Subjects: walter benjamin, revolution, fulfilment, wish, dream, history, Fine Arts, Arts in general, NX1-820, General Works, History of scholarship and learning. The humanities, AZ20-999
Abstract: This paper analyses the diverse references involved in Walter Benjamin’s idea of revolution. Despite its significance for his philosophical outlook, the concept of revolution seems to receive no systematic or perhaps even consistent treatment in his heterogeneous writings. But what is clear is that, in contrast to the way the term is usually understood in political philosophy, Benjamin conceives of revolution primarily as a category of experience, a type of emphatic experience of meaning. The paper defends this interpretation against some of the recent treatments of Benjamin’s notion of the dream and the wish. It shows that an adequate account of Benjamin’s idea of revolution must grapple with his peculiar idea of an articulated wish that is fulfilled in history. And it defends the thesis that this idea of a fulfilled historical wish provides the most robust formulation of the different references involved in Benjamin’s idea of revolutionary experience as well an instructive point of contrast between Benjamin’s treatment of this idea and other well-known conceptions of revolution.
Published: 2017
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8. A study of the potential evidential value of perfumes, antiperspirants and deodorants in forensic science

Author: Davidson, Alison Ross
Subjects: 363.25
Abstract: Perfumes and other fragranced products are abundant in our environment and are therefore likely to be abundant in a crime scene environment. They have properties which make them ideally suited to chemical detection and analysis but are currently underutilised as a potential source of evidence and intelligence. This work provides evidence supporting the hypothesis that such products have the potential to be forensically useful when analysed using modern analytical instrumentation. Gas Chromatography (GC), Fourier Transform Infrared Spectroscopy (FTIR) and High Performance Liquid Chromatography (HPLC) were each evaluated for their ability to distinguish between perfumes, deodorants and antiperspirants. GC analysis proved to be straightforward and provided sufficient detail to distinguish between products using visual pattern matching and statistical tools such as principal component analysis. FTIR was also able to discriminate between products with some success but it was felt that HPLC produced results with insufficient product detail to distinguish between perfumes. Using GC as the primary analytical technique, further experiments explored the most appropriate ways to store samples, recover liquid deposits from a crime scene and analyse a suspect or victim’s garments. It was also demonstrated that the change in composition of perfumes with evaporation follows a predictable pattern with forensically significant implications. This research has also established vital groundwork for future study into individual chemical profiles and lifestyle indicators.
Published: 2017

9. Genetic basis of spirality in Campylobacter jejuni

Author: Esson, Diane Alison Ross
Subjects: 636.089, Campylobacter jejuni
Published: 2015

10. An exploration of individual emergent leaders' identity development through the use of learning biographies

Author: Fox, Alison Ross Craven
Subjects: 371.2011
Abstract: The English National College for Leadership of Schools and Children's Services' (NCLSCS) framework for leadership development refers to 'emergent leaders', without being clear what 'emergent' means. This study explores the experiences of those considered as 'emergent leaders' to find out how 'emergence' might be understood. Their development is conceptualised as identity development, by adopting a socio-cultural understanding of the emergent leaders' learning. The focus is on how individuals make meaning of their experiences once in formal leadership roles, so developing their identities. This is important to understand in a context in which schools are experiencing problems with both teacher retention and senior leader recruitment. Five 'emergent' leaders from three English Local Authorities and from Primary, Middle and Secondary schools participated in a series of interviews and 'learning log' activities over periods of 14-36 months. Phase 1 focused on their experiences prior to the start of the study: Phase 2 on their current learning. From the accumulated data set learning biographies were generated. Diverse and personal accounts of identity development were revealed. The study concluded that it was not appropriate to think of 'emergence' in terms of role progression into senior leadership positions, as the NCLSCS framework for leadership might imply. Individuals decided who they wanted to become by making sense of themselves in relation to judgments of their experiences. Whilst three participant leaders did develop identities as aspiring senior leaders, two talked instead of aspiring to be peers, rather than 'leaders'. The study highlighted the central role of talk to identity development and the lack of opportunity for this in schools. This involved reflective 'self talk' as well as talk with others, with the study itself contributing to such 'identity talk'. It is important to develop opportunities (times, spaces, skills and relationships) for talk to support contemporary 'emergent' school leaders'.
Published: 2012
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11. T.S. Eliot and Charles Peirce : a study of the influence of Peircean philosophy on the philosophy, poetry and criticism of T.S. Eliot

Author: Cassidy, Alison Ross
Subjects: 800, Literature
Abstract: This is a study of the relationship between the philosophy of Charles Peirce and the philosophy, criticism and poetic methodology of T.S. Eliot. I begin by considering Peirce's connections with Harvard University, and the effects of Peircean philosophy on the ideas and teaching methods of the philosophers who taught Eliot at Harvard between 1907 and 1914. I discuss Peirce's sign-theory of cognition, and consider ho~ this theory may have influenced Eliot's choice of a poetic method - his choice, that is, to write a poetry of 'signification'. I argue that the choice of such a method by Eliot evidences a Peircean conception of reality. I consider the Pragmatism of Peirce, and argue that Eliot' ~ poems consistently present a 'pragmatistic' view of reality, a Vl~ of reality as dependent upon, or identifiable with, actio] ('practice'). Conversely, ~eality in the poetry of Eliot i: frequently represented in terms of a failure of practice, the fail ure to act. Central to Peirce's Pragmatism is the theory that a experience of the world as 'real' requires the sense of continuit in experience. I discuss this theory as it is found in the work 0 Peirce and William James, and argue that in the poems and plays c Eliot reality is consistently represented as directly dependent upc continuity and coherence in experience. Associated with the Pragmatism of William James is the VlE that our 'habits' of perception and behaviour are what literal] determine the identity (and thus the reality) of objects. I discu~ the extent to which 'habits' of various kinds (including Freudic , ceremonials') are represented in Eliot's poems as that In which reality in same sense inheres. I discuss finally Peirce's conception of the crucial function of 'Doubt' in the quest for knowledge specifically in the 'scientific method' of inquiry. I argue that doubt plays a crucial role in Eliot's poetry, and performs an essentially Peircean function in Eliot's quest for reality and truth.
Published: 1992

12. A nucleolar long 'non-coding' RNA encodes a novel protein that functions in response to stress

Author: Shuang Feng, Anthony Desotell, Alison Ross, Marko Jovanovic, and James L. Manley
Subjects: Multidisciplinary
Abstract: Certain long non-coding RNAs (lncRNAs) are known to contain small open reading frames that can be translated. Here we describe a much larger 25 kDa human protein, “ R ibosomal I GS E ncoded P rotein” (RIEP), that remarkably is encoded by the well-characterized RNA polymerase (RNAP) II-transcribed nucleolar “promoter and pre-rRNA antisense” lncRNA ( PAPAS ). Strikingly, RIEP, which is conserved throughout primates but not found in other species, predominantly localizes to the nucleolus as well as mitochondria, but both exogenously expressed and endogenous RIEP increase in the nuclear and perinuclear regions upon heat shock (HS). RIEP associates specifically with the rDNA locus, increases levels of the RNA:DNA helicase Senataxin, and functions to sharply reduce DNA damage induced by heat shock. Proteomics analysis identified two mitochondrial proteins, C1QBP and CHCHD2, both known to have mitochondrial and nuclear functions, that we show interact directly, and relocalize following heat shock, with RIEP. Finally, it is especially notable that the rDNA sequences encoding RIEP are multifunctional, giving rise to an RNA that functions both as RIEP messenger RNA (mRNA) and as PAPAS lncRNA, as well as containing the promoter sequences responsible for rRNA synthesis by RNAP I. Our work has thus not only shown that a nucleolar “non-coding” RNA in fact encodes a protein, but also established a novel link between mitochondria and nucleoli that contributes to the cellular stress response.
Published: 2023

13. Walter Benjamin’s communism

Author: Alison Ross
Subjects: Cultural Studies, Communist society, History, Sociology and Political Science, Philosophy, Political Science and International Relations, Economic history, Communism
Abstract: What does ‘communism’ mean in Walter Benjamin’s writing? It has been used in some quarters to claim that Benjamin has a quasi-Marxist theory of communist society. This paper will argue instead that Benjamin’s communism is framed by his distinctive conception of experience and that it is understandable only through that conception. Benjamin’s image of ‘communist society’ refers to a specific type of experience (‘collective experience’) rather than a type of social organization. The paper discusses the conceptual background of that image and also points out a number of the difficulties that Benjamin’s conception of collective experience faces given its genesis in a model of individual experience.
Published: 2021

14. 361 Universal expansion of CBL-B-inhibited tumor infiltrating lymphocytes, DeTIL-0255, from women with ovarian cancer: Process validation

Author: Pranav Murthy, Nell Namitha Narasappa, Xiaoyan Liang, Xianzhu Wu, Irene Luu, Jeevitha Jeevan, Sagar Sharma, Alison Ross, Caleb Lampenfeld, Sam Zahn, Thomas Musial, Jennifer Bone, John Nakayama, David Bartlett, Jocelyn Chapman, Greta Garrido, Nicholas Shinners, Arthur Sands, Michael Blackton, Ena Wang, and Michael Lotze
Published: 2022

15. The articulation of contrastive and non-contrastive pre-stopped consonants in Kaytetye.

Author: Susan Lin, Mark Harvey, Myfany Turpin, Alison Ross, and Katherine Demuth
Published: 2015

16. Jacques Ranciere and the Contemporary Scene: The Philosophy of Radical Equality

Author: Jean-Philippe Deranty, Alison Ross, Jean-Philippe Deranty, Alison Ross
Published: 2012

17. 517 Long Term Scarring Assessment of Burn Wounds Treated with Bioengineered Allogeneic Cellularized Construct

Author: Eriks Ziedins, Alina Corona, Melissa McLawhorn, Sarah Burkey, Cara Delatore, Alison Ross, Jeffrey Shupp, and Bonnie Carney
Subjects: Rehabilitation, Emergency Medicine, Surgery
Abstract: Introduction Bioengineered allogeneic cellularized construct (BACC) has recently been proven to be effective for treatment of burn wounds and now has FDA approval. There is a paucity of data describing long term (≥1 year) scar characteristics following treatment with BACC, including its potential to modulate the formation of hypertrophic scar (HTS). HTS causes significant physical and psychosocial implications which can result in diminished quality of life. This study aims to characterize post-burn scars resulting from BACC-treated wounds compared to within subject matched autografted wounds using clinical and histologic metrics. Methods Adult patients (n=5) were previously enrolled in a Phase III clinical trial for treatment of their deep partial thickness acute burn wounds. Subjects had clinical scar examinations including imaging, Scar Assessment Scales (POSAS), and non-invasive skin measurements to quantify skin elasticity, erythema, and melanin. Punch biopsies were collected and fixed in formalin from the autograft-treated site (A), the BACC-treated site (B), the donor-site (D), and an area of normal skin (NS). The formalin-fixed biopsies were then embedded in paraffin, sectioned, and stained with H&E, Picrosirius Red, and Herovici. Results The use of BACC produced no difference in POSAS score and achieved elasticity measurements comparable to NS (Table 1). The erythema measurement demonstrated differences between scar sites and each scar site was different from NS. The donorsite also had some variation from NS. The measured melanin levels were different between each scar site, and both were different from NS. The donorsite also had detectable differences in melanin from NS. Measurements of epidermal thickness demonstrated differences between scar sites with BACC being similar to NS. Rete ridge ratio were different between scar sites and between autograft vs. NS. Papillary dermis cellularity had minor differences between scar sites and both scar sites were different from NS. Reticular dermis cellularity was equivalent between autograft and BACC sites and both were different from NS. Papillary and reticular alignment were not different between scar sites. Reticular orientation was not different between autograft and BACC but was different in BACC vs. NS. Papillary dermal thickness was different between autograft and BACC. Conclusions The HTSs resulting from wound closure achieved using BACC are similar to autografting in metrics related to clinical POSAS scores, extracellular matrix, and collagen structure. Scars following autografting or the use of BACC to achieve wound closure differ in metrics related to pigmentation, epidermal structure, and papillary dermal thickness and cellularity. Applicability of Research to Practice These findings may suggest that the use of BACC is a more optimal treatment for certain burn depths in certain patients because some HTS outcomes are equivalent, and it eliminates the need for a donor site.
Published: 2023

18. Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants

Author: Rebecca L. Poole, Mihaly Badonyi, Alison Cozens, Nicola Foulds, Joseph A. Marsh, Shamima Rahman, Alison Ross, Joanna Schooley, Volker Straub, Alan J. Quigley, David FitzPatrick, and Anne Lampe
Subjects: Genetics, General Medicine, Genetics (clinical)
Published: 2023

19. Forms of trust and polypharmacy among older adults

Author: Alison Ross and James Gillett
Subjects: Gerontology, Polypharmacy, 03 medical and health sciences, 0302 clinical medicine, Health (social science), 030504 nursing, Arts and Humanities (miscellaneous), Social Psychology, Public Health, Environmental and Occupational Health, 030212 general & internal medicine, Geriatrics and Gerontology, 0305 other medical science, Psychology
Abstract: This article examines how older adults make decisions about their medications through interconnected axes of trust that operate across social networks. Trust is negotiated by older adults enrolled in a deprescribing programme which guides them through the process of reducing medications to mitigate risks associated with polypharmacy. Habermas’ work on the significance of communicative action in negotiating trust within social relationships informs our analysis, specifically in-depth semi-structured interviews with older adults about their medication use and the role of social networks in managing their health. Participants were age 70+ and experiencing polypharmacy. Our analysis discusses the social nature of medication practices and the importance of social networks for older adults’ decision-making. Their perspective reflects the critique of late-modern society put forward by Habermas. Negotiating trust in pharmaceutical decision-making requires navigating tensions across and between system networks (health-care professionals) and life-world networks (family and friends). This study contributes to our knowledge of how distinct forms of trust operate in different social spheres, setting the context for the way health-care decisions are made across social networks. Our analysis reinforces the need for older adults to engage meaningfully in health-care decision-making such that a convergence between system-world and life-world structures is encouraged. This would improve deprescribing programmes’ efficacy as older adults optimise their medication use and improve overall quality of life.
Published: 2020

20. A Simulation Toolkit for Testing the Sensitivity and Accuracy of Corticometry Pipelines

Author: Patrick Bermudez, Seun Jeon, Mona Omidyeganeh, Pierre Rioux, Samir Das, Najmeh Khalili-Mahani, Alison Ross, Matthijs C. van Eede, Reza Adalat, Alex P. Zijdenbos, Claude Lepage, Lindsay B. Lewis, Robert D. Vincent, and Alan C. Evans
Subjects: Computer science, Partial volume, Biomedical Engineering, Neuroscience (miscellaneous), Neurosciences. Biological psychiatry. Neuropsychiatry, Statistical parametric mapping, Brain mapping, 050105 experimental psychology, 03 medical and health sciences, 0302 clinical medicine, statistical parametric mapping, Neuroimaging, Methods, brain morphometry, 0501 psychology and cognitive sciences, Sensitivity (control systems), biology, business.industry, 05 social sciences, Brain morphometry, Pattern recognition, cortical thickness, biology.organism_classification, Computer Science Applications, Kernel (image processing), Civet, reproducible neuroimaging, Artificial intelligence, lesion simulation, pipeline accuracy, business, 030217 neurology & neurosurgery, RC321-571, Neuroscience
Abstract: In recent years, the replicability of neuroimaging findings has become an important concern to the research community. Neuroimaging pipelines consist of myriad numerical procedures, which can have a cumulative effect on the accuracy of findings. To address this problem, we propose a method for simulating artificial lesions in the brain in order to estimate the sensitivity and specificity of lesion detection, using different automated corticometry pipelines. We have applied this method to different versions of two widely used neuroimaging pipelines (CIVET and FreeSurfer), in terms of coefficients of variation; sensitivity and specificity of detecting lesions in 4 different regions of interest in the cortex, while introducing variations to the lesion size, the blurring kernel used prior to statistical analyses, and different thickness metrics (in CIVET). These variations are tested in a between-subject design (in two random groups, with and without lesions, using T1-weigted MRIs of 152 individuals from the International Consortium of Brain Mapping (ICBM) dataset) and in a within-subject pre-/post-lesion design [using 21 T1-Weighted MRIs of a single adult individual, scanned in the Infant Brain Imaging Study (IBIS)]. The simulation method is sensitive to partial volume effect and lesion size. Comparisons between pipelines illustrate the ability of this method to uncover differences in sensitivity and specificity of lesion detection. We propose that this method be adopted in the workflow of software development and release.
Published: 2021
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21. Two immigrants’ search to find home

Author: Alison Ross
Subjects: media_common.quotation_subject, Immigration, Gender studies, Sociology, media_common
Published: 2020

22. The Errors of History

Author: Alison Ross
Published: 2020

23. Histone H3.3 beyond cancer: Germline mutations in

Author: Laura, Bryant, Dong, Li, Samuel G, Cox, Dylan, Marchione, Evan F, Joiner, Khadija, Wilson, Kevin, Janssen, Pearl, Lee, Michael E, March, Divya, Nair, Elliott, Sherr, Brieana, Fregeau, Klaas J, Wierenga, Alexandrea, Wadley, Grazia M S, Mancini, Nina, Powell-Hamilton, Jiddeke, van de Kamp, Theresa, Grebe, John, Dean, Alison, Ross, Heather P, Crawford, Zoe, Powis, Megan T, Cho, Marcia C, Willing, Linda, Manwaring, Rachel, Schot, Caroline, Nava, Alexandra, Afenjar, Davor, Lessel, Matias, Wagner, Thomas, Klopstock, Juliane, Winkelmann, Claudia B, Catarino, Kyle, Retterer, Jane L, Schuette, Jeffrey W, Innis, Amy, Pizzino, Sabine, Lüttgen, Jonas, Denecke, Tim M, Strom, Kristin G, Monaghan, Zuo-Fei, Yuan, Holly, Dubbs, Renee, Bend, Jennifer A, Lee, Michael J, Lyons, Julia, Hoefele, Roman, Günthner, Heiko, Reutter, Boris, Keren, Kelly, Radtke, Omar, Sherbini, Cameron, Mrokse, Katherine L, Helbig, Sylvie, Odent, Benjamin, Cogne, Sandra, Mercier, Stephane, Bezieau, Thomas, Besnard, Sebastien, Kury, Richard, Redon, Karit, Reinson, Monica H, Wojcik, Katrin, Õunap, Pilvi, Ilves, A Micheil, Innes, Kristin D, Kernohan, Gregory, Costain, M Stephen, Meyn, David, Chitayat, Elaine, Zackai, Anna, Lehman, Hilary, Kitson, Martin G, Martin, Julian A, Martinez-Agosto, Stan F, Nelson, Christina G S, Palmer, Jeanette C, Papp, Neil H, Parker, Janet S, Sinsheimer, Eric, Vilain, Jijun, Wan, Amanda J, Yoon, Allison, Zheng, Elise, Brimble, Giovanni Battista, Ferrero, Francesca Clementina, Radio, Diana, Carli, Sabina, Barresi, Alfredo, Brusco, Marco, Tartaglia, Jennifer Muncy, Thomas, Luis, Umana, Marjan M, Weiss, Garrett, Gotway, K E, Stuurman, Michelle L, Thompson, Kirsty, McWalter, Constance T R M, Stumpel, Servi J C, Stevens, Alexander P A, Stegmann, Kristian, Tveten, Arve, Vøllo, Trine, Prescott, Christina, Fagerberg, Lone Walentin, Laulund, Martin J, Larsen, Melissa, Byler, Robert Roger, Lebel, Anna C, Hurst, Joy, Dean, Samantha A, Schrier Vergano, Jennifer, Norman, Saadet, Mercimek-Andrews, Juanita, Neira, Margot I, Van Allen, Nicola, Longo, Elizabeth, Sellars, Raymond J, Louie, Sara S, Cathey, Elly, Brokamp, Delphine, Heron, Molly, Snyder, Adeline, Vanderver, Celeste, Simon, Xavier, de la Cruz, Natália, Padilla, J Gage, Crump, Wendy, Chung, Benjamin, Garcia, Hakon H, Hakonarson, and Elizabeth J, Bhoj
Subjects: endocrine system, SciAdv r-articles, Forkhead Transcription Factors, Neurodegenerative Diseases, Zebrafish Proteins, Histones, fluids and secretions, mental disorders, Genetics, Animals, Humans, Molecular Biology, reproductive and urinary physiology, Germ-Line Mutation, Zebrafish, Research Articles, Research Article
Abstract: Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome., Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.
Published: 2020

24. The Politics of Disease Epidemics: a Comparative Analysis of the SARS, Zika, and Ebola Outbreaks

Author: Alison Ross and Lydia Kapiriri
Subjects: SARs, medicine.medical_specialty, biology, Social work, Sociology and Political Science, Public health, 030231 tropical medicine, Politics, Outbreak, Criminology, biology.organism_classification, Article, 3. Good health, Zika virus, Power (social and political), 03 medical and health sciences, 0302 clinical medicine, Zika, Ebola, medicine, Narrative, 030212 general & internal medicine, Epidemics, Social policy
Abstract: Over the past few decades, disease outbreaks have become increasingly frequent and widespread. The epicenters of these outbreaks have differed, and could be linked to different economic contexts. Arguably, the responses to these outbreaks have been “political” and inherently burdensome to marginalized populations. Key lessons can be learned from exploring the narratives about the different epidemics in varying income settings. Based on a review of the published medical, social, and political literature, which was accessed using four electronic databases—PubMed, Sociological Abstracts, Scholars Portal, and Web of Science, the overall objective of this paper discuss scholars’ narratives on the “politics” of Ebola in a low-income setting, Zika virus in a middle-income setting, and SARS in a high-income setting. Various themes of the politics of epidemics were prominent in the literature. The narratives demonstrated the influence of power in whose narratives and what narratives are presented in the literature. While marginalized populations were reported to have borne the brunt of all disease outbreaks in the different contexts, the prevalence of their narratives within the reviewed literature was limited. Regardless of income setting, there is a need to give voice to the most marginalized communities during an epidemic. The experiences and narratives of those most vulnerable to an epidemic—specifically poor communities—need to be represented in the literature. This could contribute to mitigating some of the negative impact of the politics in epidemics.
Published: 2020

25. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

Author: Thomas Besnard, Kristian Tveten, Hilary F Kitson, Jennifer A. Lee, Brieana Fregeau, Rachel Schot, Khadija Wilson, Katrin Õunap, Juliane Winkelmann, Anna Lehman, Nicola Longo, Servi J. C. Stevens, Megan T. Cho, Christina G.S. Palmer, Causes Study, Giovanni Battista Ferrero, Joy Dean, Lone W. Laulund, Grazia M.S. Mancini, Matias Wagner, Martin G. Martin, Sabine Lüttgen, Elizabeth J. Bhoj, Amanda J. Yoon, Thomas Klopstock, Janet S. Sinsheimer, Eric Vilain, Sébastien Küry, Francesca Clementina Radio, Jiddeke M. van de Kamp, Cameron Mrokse, Hakon Hakonarson, Samuel G. Cox, Jeanette C. Papp, Margot I. Van Allen, Raymond J. Louie, Constance T. R. M. Stumpel, Evan F. Joiner, Juanita Neira, Arve Vøllo, Amy Pizzino, Kelly Radtke, Celeste Simon, Michelle L. Thompson, Allison Zheng, Omar Sherbini, Marcia C. Willing, Tim M. Strom, Benjamin Garcia, Sara S. Cathey, Theresa A. Grebe, Dong Li, Marjan M. Weiss, Marco Tartaglia, Laura M Bryant, Sandra Mercier, Katherine L. Helbig, Martin Jakob Larsen, Ddd Study, Alexandrea Wadley, Alexander P.A. Stegmann, Sabina Barresi, A. Micheil Innes, Elaine H. Zackai, Gregory Costain, Davor Lessel, Molly Snyder, Heather P. Crawford, Richard Redon, Pearl Lee, Melissa Byler, Holly Dubbs, J. Gage Crump, K. E. Stuurman, Boris Keren, Stéphane Bézieau, Stan F. Nelson, Kristin G. Monaghan, Michael J. Lyons, Jeffrey W. Innis, Anna C.E. Hurst, Elizabeth A. Sellars, Samantha A. Schrier Vergano, Saadet Mercimek-Andrews, Monica H. Wojcik, Alison Ross, Heiko Reutter, Zuo-Fei Yuan, Dylan M. Marchione, Renee Bend, Diana Carli, Zöe Powis, Neil H. Parker, Jennifer Muncy Thomas, Luis A. Umaña, Adeline Vanderver, Julia Hoefele, Linda Manwaring, Christina Fagerberg, Elly Brokamp, M. Stephen Meyn, Pilvi Ilves, Xavier de la Cruz, Nina Powell-Hamilton, Caroline Nava, Garrett Gotway, Karit Reinson, Kristin D. Kernohan, Jennifer Norman, Alexandra Afenjar, Benjamin Cogné, Delphine Héron, Roman Günthner, Alfredo Brusco, John Dean, Kevin A. Janssen, Robert Roger Lebel, Divya Nair, Jijun Wan, Julian A. Martinez-Agosto, Elliott H. Sherr, Kyle Retterer, Claudia B. Catarino, Michael E. March, Natalia Padilla, Elise Brimble, Sylvie Odent, Jane L. Schuette, David Chitayat, Klaas J. Wierenga, Kirsty McWalter, Trine Prescott, Jonas Denecke, Wendy K. Chung, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Gastroenterology Endocrinology Metabolism, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), and Clinical Genetics
Subjects: metabolism [Zebrafish Proteins], RESIDUE, metabolism [Histones], GENES, Somatic cell, CODE, cancer mutation, histone, Biology, VARIANTS, medicine.disease_cause, progressive neurologic dysfunction, Histones, 03 medical and health sciences, Histone H3, 0302 clinical medicine, Germline mutation, SDG 3 - Good Health and Well-being, histone, neurodevelopmental disorder, progressive neurologic dysfunction, congenital anomalies, cancer mutation, medicine, Animals, Humans, H3-3A protein, human, metabolism [Zebrafish], TRANSCRIPTION, PHOSPHORYLATION, Gene, Zebrafish, Germ-Line Mutation, 030304 developmental biology, Genetics, genetics [Zebrafish], 0303 health sciences, Multidisciplinary, foxd3 protein, zebrafish, congenital anomalies, Forkhead Transcription Factors, Zebrafish Proteins, biology.organism_classification, genetics [Histones], neurodevelopmental disorder, H3F3B, Histone, genetics [Forkhead Transcription Factors], genetics [Neurodegenerative Diseases], biology.protein, ddc:500, Carcinogenesis, 030217 neurology & neurosurgery
Abstract: Germ line mutations in H3F3A and H3F3B cause a previously unidentified neurodevelopmental syndrome. Although somatic mutations in Histone 3.3 (H3.3) are well-studied drivers of oncogenesis, the role of germline mutations remains unreported. We analyze 46 patients bearing de novo germline mutations in histone 3 family 3A (H3F3A) or H3F3B with progressive neurologic dysfunction and congenital anomalies without malignancies. Molecular modeling of all 37 variants demonstrated clear disruptions in interactions with DNA, other histones, and histone chaperone proteins. Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation. RNA sequencing on patient cells demonstrated up-regulated gene expression related to mitosis and cell division, and cellular assays confirmed an increased proliferative capacity. A zebrafish model showed craniofacial anomalies and a defect in Foxd3-derived glia. These data suggest that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation
Published: 2020

26. THE ERRORS OF HISTORY

Author: Alison Ross
Subjects: Cultural Studies, Register (sociolinguistics), Literature and Literary Theory, Michel foucault, Philosophy, media_common.quotation_subject, 05 social sciences, Rationalism, 06 humanities and the arts, 0603 philosophy, ethics and religion, 0506 political science, Epistemology, 060302 philosophy, 050602 political science & public administration, Relevance (law), Relation (history of concept), Order (virtue), Skepticism, media_common
Abstract: This paper critically evaluates Foucault’s relation to Bachelard and Canguilhem. It reconsiders the relevance of the concept of “influence” for treating this relation in order to register the more sceptical position Foucault adopts towards knowledge practices than either of these figures from twentieth-century French epistemology.
Published: 2018

27. The Ascent of Affect: Genealogy and Critique

Author: Alison Ross
Subjects: Philosophy, History, Sociology and Political Science, Human science, Affect (psychology), Object (philosophy), Epistemology
Abstract: Ruth Leys’ Ascent of Affect is a compelling and impressive history of twentieth century interest in the emotions as an object of study in the human sciences. Leys’ interest in the topic dates from ...
Published: 2019

28. Practices of Form: Art – Philosophy – Life – History

Author: Alison Ross
Subjects: Philosophy, Sociology and Political Science, 050903 gender studies, Aesthetics, 0502 economics and business, 05 social sciences, Sociology, 0509 other social sciences, Life history, 050203 business & management
Abstract: This article canvases some of the issues involved in the idea of form as a practice in Kant, Blumenberg and Foucault, and it also outlines the different contexts and approaches the individual papers collected in this Special Issue use to explore this idea.
Published: 2017

29. Between Luxury and Need: The Idea of Distance in Philosophical Anthropology

Author: Alison Ross
Subjects: media_common.quotation_subject, 05 social sciences, 050105 experimental psychology, Ideal (ethics), Philosophical anthropology, Epistemology, Philosophy, Instinct, Expression (architecture), 0502 economics and business, 0501 psychology and cognitive sciences, Sociology, Human species, 050203 business & management, media_common
Abstract: This paper offers a critical analysis of the use of the idea of distance in philosophical anthropology. Distance is generally presented in works of philosophical anthropology as the ideal coping strategy, which rests in turn on the thesis of the instinct deficiency of the human species. Some of the features of species life, such as its sophisticated use of symbolic forms, come to be seen as necessary parts of this general coping strategy, rather than a merely expressive outlet, incidental to the ultimate goal of life preservation. The paper analyses the arguments used in support of the thesis of instinct deficiency in Hans Blumenberg and considers their implications for the status of symbolic expression in species life. It contrasts the approach this thesis involves with one that proceeds by presenting and arguing from biological evolutionary evidence. The contrast is used to examine the questions: in what sense instinct deficiency is specifically anthropological, and in what precise sense philoso...
Published: 2017

30. Confronting Medicine's Dichotomies: Older Adults' Use of Interpretative Repertoires in Negotiating the Paradoxes of Polypharmacy and Deprescribing

Author: James Gillett and Alison Ross
Subjects: Gerontology, Male, Aging, Dichotomy, media_common.quotation_subject, Interviews as Topic, 03 medical and health sciences, 0302 clinical medicine, Deprescriptions, Health care, Institution, Humans, Narrative, 030212 general & internal medicine, Qualitative Research, media_common, Aged, Polypharmacy, Aged, 80 and over, 030504 nursing, business.industry, Negotiating, Qualitative interviews, Public Health, Environmental and Occupational Health, Patient Preference, Negotiation, Socioeconomic Factors, Female, Deprescribing, 0305 other medical science, business, Psychology
Abstract: To address the risks associated with polypharmacy, health care providers are investigating the feasibility of deprescribing programs as part of routine medical care to reduce medication burden to older adults. As older adults are enrolled in these programs, they are confronted with two dominant and legitimate accounts of medications, labeled the medication paradox: medications keep you healthy but they might be making you sick. We investigated how the medication paradox operates in the lives of older adults. In-depth qualitative interviews were conducted and analyzed with older adults aged 70+ to identify the various paradoxes that seniors live through regarding their medications and the narratives that they engage to negotiate these contradictions. Older adults were found to have established interpretative repertoires to make sense of the incongruent narratives of the medication paradox. In this article, we demonstrate older adults’ efforts to carve out their unique place in the dichotomized institution of medicine.
Published: 2019

31. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

Author: Anne H. O’Donnell-Luria, Lynn S. Pais, Víctor Faundes, Jordan C. Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A. Basinger, Claudia Bianchini, Lynne M. Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James J. Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F. Escobar, Alessandra Ferrarini, Tobias B. Haack, Mona Hashim, Solveig Heide, Katherine L. Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R. Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y. Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M. Maas, Gustavo H.B. Maegawa, Carlo L.M. Marcelis, Paul R. Mark, Marcelo R. Masruha, Heather M. McLaughlin, Kirsty McWalter, Esther U. Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L.P. Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C. Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A. Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G. Weber, Ingrid M. Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H. Rodan, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Jill Clayton-Smith, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Jenny Morton, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Department of Medicine 1, Friedrich-Alexander Universität Erlangen-Nürnberg (FAU), Center for Medical Genetics, Istituto di Scienze e Tecnologie della Cognizione, Consiglio Nazionale delle Ricerche (ISTC, CNR), Istituto di Scienze e Tecnologie della Cognizione, Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique médicale [Centre Hospitalier de Vannes], Centre hospitalier Bretagne Atlantique (Morbihan) (CHBA), Department of Pediatrics, University of Michigan [Ann Arbor], University of Michigan System-University of Michigan System, Centre de Génétique Chromosomique [Hôpital Saint Vincent de Paul], Hôpital Saint Vincent de Paul-Groupement des Hôpitaux de l'Institut Catholique de Lille (GHICL), Université catholique de Lille (UCL)-Université catholique de Lille (UCL), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique médicale, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Institute of Human Genetics, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz Zentrum München = German Research Center for Environmental Health, Groupe de Recherche Clinique : Déficience Intellectuelle et Autisme (GRC), Université Pierre et Marie Curie - Paris 6 (UPMC), Children’s Hospital of Philadelphia (CHOP ), Service de Génétique Médicale, Centre hospitalier universitaire de Nantes (CHU Nantes), Department of Public Health Sciences, Karolinska Institutet [Stockholm], Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Baylor University-Baylor University, Institute of Medical Genetics, Universität Zürich [Zürich] = University of Zurich (UZH), Università degli Studi di Camerino = University of Camerino (UNICAM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), University of Oxford, GeneDx [Gaithersburg, MD, USA], Department of Clinical Genetics (Academic Medical Center, University of Amsterdam), VU University Medical Center [Amsterdam], Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Clinical Genetics, Aarhus University Hospital, Boston Children's Hospital, Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Institute of Biomedical Engineering [Oxford] (IBME), Climatic Research Unit, University of East Anglia [Norwich] (UEA), Imperial College London, St Mary's Hospital, East Anglian Medical Genetics Service, Cytogenetics Laboratory, Addenbrooke's Hospital, Sheffield Children's NHS Foundation Trust, Regional Genetic Service, St Mary's Hospital, Manchester, Genetics, University of Southampton, Great Ormond Street Hospital for Children [London] (GOSH), Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Molecular and Clinical Medicine [Dundee, UK] (School of Medicine), University of Dundee [UK]-Ninewells Hospital & Medical School [Dundee, UK], Department of Clinical Genetics, Oxford Regional Genetics Service, The Churchill hospital, North West Thames Regional Genetics, Northwick Park Hospital, Royal Devon & Exeter Hospital, Wessex Clinical Genetics Service, Wessex clinical genetics service, Manchester University NHS Foundation Trust (MFT), West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Our Lady's hospital for Sick Children, Our Lady's Hospital for Sick Children, Guy's Hospital [London], University Hospitals Leicester, University of Edinburgh, Belfast City Hospital, Ferguson-Smith Centre for Clinical Genetics, Yorkhill Hospitals, Institute of Medical Genetics, Heath Park, Cardiff, The London Clinic, Nottingham City Hospital, Clinical Genetics Department, St Michael's Hospital, Department of Genetic Medicine, Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust (NUH), Royal Devon and Exeter Foundation Trust, Histopathology, St. George's Hospital, Teesside Genetics Unit, James Cook University (JCU), Kansas State University, Liverpool Women's NHS Foundation Trust, Department of Medical Genetics, HMNC Brain Health, North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, Leicester Royal Infirmary, University Hospitals Leicester-University Hospitals Leicester, Ninewells Hospital and Medical School [Dundee], Academic Centre on Rare Diseases (ACoRD), University College Dublin [Dublin] (UCD), Oxford Brookes University, Institute of medicinal plant development, Chinese Academy of Medical Sciences, Newcastle Upon Tyne Hospitals NHS Trust, Service d'explorations fonctionnelles respiratoires [Lille], Department of Computer Science - Trinity College Dublin, University of Dublin, Department of Clinical Genetics (Sheffield Children’s NHS Foundation Trust), Division of Medical & Molecular Genetics, NHS Greater Glasgow & Clyde [Glasgow] (NHSGGC), Department of Clinical Genetics [Churchill Hospital], Churchill Hospital Oxford Centre for Haematology, Weizmann Institute of Science [Rehovot, Israël], Southampton General Hospital, Western General Hospital, Head of the Department of Medical Genetics, University of Birmingham [Birmingham], SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), All Wales Medical Genetics Services, Singleton Hospital, Central Manchester University Hospitals NHS Foundation Trust, University of North Texas (UNT), Clinical Genetics, Northern Genetics Service, Newcastle University [Newcastle], United Kingdom Met Office [Exeter], Institute of Medical Genetics (University Hospital of Wales), University Hospital of Wales (UHW), West Midlands Regional Genetics Laboratory and Clinical Genetics Unit, Birmingham Women's Hospital, Laboratory of Molecular Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Department of Genetics, Cell- and Immunobiology, Semmelweis University, University Hospitals Bristol, Marketing (MKT), EESC-GEM Grenoble Ecole de Management, Addenbrookes Hospital, West of Scotland Genetics Service (Queen Elizabeth University Hospital), University Hospital Birmingham Queen Elizabeth, Department of Clnical Genetics, Chapel Allerton Hospital, Department of Clinical Genetics, Northampton General Hospital, Northampton, Royal Devon and Exeter Hospital [Exeter, UK] (RDEH), Guy's and St Thomas' Hospital [London], School of Computer Science, Bangor University, University Hospital Southampton, Clinical Genetics Unit, St Georges, University of London, Medical Genetics, Cardiff University, Research and Development, Futurelab, Nottingham Regional Genetics Service [Nottingham, UK], Nottingham University Hospitals NHS Trust (NUH)-City Hospital Campus [Nottingham, UK], University of St Andrews [Scotland], Clinical Genetics Service, Nottingham University Hospitals NHS Trust - City Hospital Campus, West Midlands Regional Genetics Unit, Department of Neurology, Johns Hopkins University (JHU), Oxford University Hospitals NHS Trust, St James's University Hospital, Leeds Teaching Hospitals NHS Trust, Addenbrooke's Hospital, Cambridge University NHS Trust, Institute of Human Genetics, Newcastle, Division of Biological Stress Response [Amsterdam, The Netherlands], The Netherlands Cancer Institute [Amsterdam, The Netherlands], Johns Hopkins Bloomberg School of Public Health [Baltimore], Birmingham Women’s Hospital, Department of Genetics, Portuguese Oncology Institute, Molecular Genetics, IWK Health Centre, IWK health centre, North West london hospitals NHS Trust, Department of Clinical Genetics (Queen Elizabeth University Hospital, Glasgow), Queen Elizabeth University Hospital (Glasgow), Birmingham women's hospital, Birmingham, Ethox Centre, Department of Public Health and Primary Health Care, University of Oxford, Badenoch Building, Old Road Campus, Headington, R01 HD091846, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Human Genome Research Institute, National Institutes of Health’s National Institute of Child Health and Human Development, Boston Children’s Hospital Faculty Development Fellowship, UM1HG008900, Broad Center for Mendelian Genomics, Chile’s National Commission for Scientific and Technological Research, DFG WE4896/3-1, German Research Society, WT 100127, Health Innovation Challenge Fund, Comprehensive Clinical Research Network, Skaggs-Oxford Scholarship, 10/H0305/83, Cambridge South REC, REC GEN/284/12, Republic of Ireland, WT098051, Wellcome Sanger Institute, 72160007, Comisión Nacional de Investigación Científica y Tecnológica, Children's Hospital of Philadelphia, Technische Universität Kaiserslautern, 1DH1813319, Dietmar Hopp Stiftung, National Institute for Health Research, Department of Health & Social Care, Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Hôpital Saint Vincent de Paul-GHICL, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Camerino (UNICAM), University of Oxford [Oxford], Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Nottingham University Hospitals NHS Trust, Nottingham University Hospitals, SW Thames Regional Genetics Service, St Georgeâ™s University of London, London, University Hospital of Wales, Grenoble Ecole de Management, Royal Devon and Exeter Hospital, City Hospital Campus [Nottingham, UK]-Nottingham University Hospitals NHS Trust [UK], ANS - Complex Trait Genetics, Human Genetics, ARD - Amsterdam Reproduction and Development, ACS - Pulmonary hypertension & thrombosis, Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], GHICL-Hôpital Saint Vincent de Paul, Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Friedrich-Alexander d'Erlangen-Nuremberg, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], Centre Hospitalier Bretagne Atlantique [Vannes], Technische Universität München [München] (TUM)-Helmholtz-Zentrum München (HZM)-German Research Center for Environmental Health, Service de Génétique et Cytogénétique [CHU Pitié-Salpêtrière], University of Zürich [Zürich] (UZH), Università di Camerino (UNICAM), Birmingham Women's Hospital Healthcare NHS Trust, University Hospitals of Leicester, Sheffield Children’s Hospital, Weizmann Institute of Science, and Grenoble Ecole de Management (GEM)
Subjects: 0301 basic medicine, Male, Microcephaly, [SDV]Life Sciences [q-bio], Haploinsufficiency, autism, epilepsy, epileptic encephalopathy, global developmental delay, H3K4 methylation, intellectual disability, KMT2E, neurodevelopmental disorder, Adolescent, Adult, Child, Child, Preschool, DNA-Binding Proteins, Epilepsy, Female, Humans, Infant, Neurodevelopmental Disorders, Pedigree, Phenotype, Young Adult, Genetic Variation, Heterozygote, 0302 clinical medicine, Neurodevelopmental disorder, Intellectual disability, Global developmental delay, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetics, 0303 health sciences, Hypotonia, 030220 oncology & carcinogenesis, medicine.symptom, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], 03 medical and health sciences, Report, medicine, Journal Article, Expressivity (genetics), Preschool, 030304 developmental biology, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Macrocephaly, medicine.disease, 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Autism, business, 030217 neurology & neurosurgery
Abstract: Contains fulltext : 206572.pdf (Publisher’s version ) (Open Access) We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de novo, and most were truncating. Most affected individuals with protein-truncating variants presented with mild intellectual disability. One-quarter of individuals met criteria for autism. Additional common features include macrocephaly, hypotonia, functional gastrointestinal abnormalities, and a subtle facial gestalt. Epilepsy was present in about one-fifth of individuals with truncating variants and was responsive to treatment with anti-epileptic medications in almost all. More than 70% of the individuals were male, and expressivity was variable by sex; epilepsy was more common in females and autism more common in males. The four individuals with microdeletions encompassing KMT2E generally presented similarly to those with truncating variants, but the degree of developmental delay was greater. The group of four individuals with missense variants in KMT2E presented with the most severe developmental delays. Epilepsy was present in all individuals with missense variants, often manifesting as treatment-resistant infantile epileptic encephalopathy. Microcephaly was also common in this group. Haploinsufficiency versus gain-of-function or dominant-negative effects specific to these missense variants in KMT2E might explain this divergence in phenotype, but requires independent validation. Disruptive variants in KMT2E are an under-recognized cause of neurodevelopmental abnormalities.
Published: 2019

32. Revolution and History in Walter Benjamin : A Conceptual Analysis

Author: Alison Ross and Alison Ross
Subjects: Revolutions--Philosophy, History--Philosophy
Abstract: This book places Benjamin's writing on revolution in the context of his conception of historical knowledge. The fundamental problem that faces any analysis of Benjamin's approach to revolution is that he deploys notions that belong to the domain of individual experience. His theory of modernity with its emphasis on the disintegration of collective experience further aggravates the problem. Benjamin himself understood the problem of revolution to be primarily that of the conceptualization of collective experience (its possibility and sites) under the conditions of modern bourgeois society. The novelty of his approach to revolution lies in the fact that he directly connects it with historical experience. Benjamin's conception of revolution thus constitutes an integral part of his distinctive theory of historical knowledge, which is also essentially a theory of experience. Through a detailed study of Benjamin's writings on the topics of the child and the dream, and an analysis of his ideas of history, the fulfilled wish, similitude and communist society, this book shows how the conceptual analysis of his corpus can get to the heart of Benjamin's conception of revolutionary experience and distil its difficulties and mechanisms.
Published: 2019

33. Increasing Primary Care Access Close to Home for Residents of Remote Communities in Northern Alberta

Author: Keith Martin, Alison H. Edie, A. Alison Ross, Johan van der Nest, and Tracey L. Yap
Subjects: Adult, Rural Population, Adolescent, Specialty, Primary health care, Pilot Projects, Primary care, Telehealth, 030204 cardiovascular system & hematology, Health Services Accessibility, Alberta, Feedback, Young Adult, 03 medical and health sciences, Health services, 0302 clinical medicine, Population Groups, Nursing, Surveys and Questionnaires, Health care, Humans, Medicine, 030212 general & internal medicine, Child, Aged, Aged, 80 and over, Medical education, Primary Health Care, business.industry, Stakeholder, Middle Aged, Telemedicine, Sustainability, business
Abstract: Residents of Canada's rural and remote communities know the challenges associated with accessing consistent healthcare. Alberta Health Services uses telehealth technology to minimize travel for rural and remote residents who require follow-up with specialists, however until recently, telehealth was only used in specialty care. This article describes a pilot project introduced in two remote northern Alberta communities to determine the feasibility and sustainability of using telehealth in the delivery of primary healthcare. Included in the article are descriptions of each phase of the project from seeking stakeholder approval through interpretation of findings and continuation of the project after it was determined successful. Jurisdictions interested in attempting their own telehealth program will be interested in the challenges and successes identified during the process. Although the project was successful, further studies are needed to determine if similar findings could be expected in other communities and populations.
Published: 2016

34. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

Author: Kathleen M. Gorman, Esther Meyer, Detelina Grozeva, Egidio Spinelli, Amy McTague, Alba Sanchis-Juan, Keren J. Carss, Emily Bryant, Adi Reich, Amy L. Schneider, Ronit M. Pressler, Michael A. Simpson, Geoff D. Debelle, Evangeline Wassmer, Jenny Morton, Diana Sieciechowicz, Eric Jan-Kamsteeg, Alex R. Paciorkowski, Mary D. King, J. Helen Cross, Annapurna Poduri, Heather C. Mefford, Ingrid E. Scheffer, Tobias B. Haack, Gary McCullagh, John J. Millichap, Gemma L. Carvill, Jill Clayton-Smith, Eamonn R. Maher, F. Lucy Raymond, Manju A. Kurian, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Siddharth Banka, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Natalie Canham, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Harinder Gill, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Bronwyn Kerr, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, Dhavendra Kumar, V. K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Shane McKee, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Michael J. Parker, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Julia Rankin, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, I. Karen Temple, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, Matthew E. Hurles, Saeed Al Turki, Carl Anderson, Richard Anney, Dinu Antony, Maria Soler Artigas, Muhammad Ayub, Senduran Balasubramaniam, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Ewan Birney, Douglas Blackwood, Martin Bobrow, Elena Bochukova, Patrick Bolton, Rebecca Bounds, Chris Boustred, Gerome Breen, Mattia Calissano, Keren Carss, Krishna Chatterjee, Lu Chen, Antonio Ciampi, Sebhattin Cirak, Peter Clapham, Gail Clement, Guy Coates, David Collier, Catherine Cosgrove, Tony Cox, Nick Craddock, Lucy Crooks, Sarah Curran, David Curtis, Allan Daly, Aaron Day-Williams, Ian N.M. Day, Thomas Down, Yuanping Du, Ian Dunham, Sarah Edkins, Peter Ellis, David Evans, Sadaf Faroogi, Ghazaleh Fatemifar, David R. Fitzpatrick, Paul Flicek, James Flyod, A. Reghan Foley, Christopher S. Franklin, Marta Futema, Louise Gallagher, Matthias Geihs, Daniel Geschwind, Heather Griffin, Xueqin Guo, Xiaosen Guo, Hugh Gurling, Deborah Hart, Audrey Hendricks, Peter Holmans, Bryan Howie, Liren Huang, Tim Hubbard, Steve E. Humphries, Pirro Hysi, David K. Jackson, Yalda Jamshidi, Tian Jing, Chris Joyce, Jane Kaye, Thomas Keane, Julia Keogh, John Kemp, Karen Kennedy, Anja Kolb-Kokocinski, Genevieve Lachance, Cordelia Langford, Daniel Lawson, Irene Lee, Monkol Lek, Jieqin Liang, Hong Lin, Rui Li, Yingrui Li, Ryan Liu, Jouko Lönnqvist, Margarida Lopes, Valentina Iotchkova, Daniel MacArthur, Jonathan Marchini, John Maslen, Mangino Massimo, Iain Mathieson, Gaëlle Marenne, Peter McGuffin, Andrew McIntosh, Andrew G. McKechanie, Andrew McQuillin, Sarah Metrustry, Hannah Mitchison, Alireza Moayyeri, James Morris, Francesco Muntoni, Kate Northstone, Michael O'Donnovan, Alexandros Onoufriadis, Stephen O'Rahilly, Karim Oualkacha, Michael J. Owen, Aarno Palotie, Kalliope Panoutsopoulou, Victoria Parker, Jeremy R. Parr, Lavinia Paternoster, Tiina Paunio, Felicity Payne, Olli Pietilainen, Vincent Plagnol, Lydia Quaye, Michael A. Quail, Karola Rehnström, Susan Ring, Graham R.S. Ritchie, Nicola Roberts, David B. Savage, Peter Scambler, Stephen Schiffels, Miriam Schmidts, Nadia Schoenmakers, Robert K. Semple, Eva Serra, Sally I. Sharp, So-Youn Shin, David Skuse, Kerrin Small, Lorraine Southam, Olivera Spasic-Boskovic, David St Clair, Jim Stalker, Elizabeth Stevens, Beate St Pourcian, Jianping Sun, Jaana Suvisaari, Ionna Tachmazidou, Martin D. Tobin, Ana Valdes, Margriet Van Kogelenberg, Peter M. Visscher, Louise V. Wain, James T.R. Walters, Guangbiao Wang, Jun Wang, Yu Wang, Kirsten Ward, Elanor Wheeler, Tamieka Whyte, Hywel Williams, Kathleen A. Williamson, Crispian Wilson, Kim Wong, ChangJiang Xu, Jian Yang, Fend Zhang, Pingbo Zhang, Timothy Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Marta Bleda, Harm Boggard, Paula Bolton-Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew Brown, Michael Browning, Christine Bryson, Siobhan Burns, Paul Calleja, Jenny Carmichael, Mark Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick Chinnery, Manali Chitre, Colin Church, Emma Clement, Naomi Clements-Brod, Gerry Coghlan, Peter Collins, Nichola Cooper, Amanda Creaser-Myers, Rosa DaCosta, Louise Daugherty, Sophie Davies, John Davis, Minka De Vries, Patrick Deegan, Sri V.V. Deevi, Lisa Devlin, Eleanor Dewhurst, Rainer Doffinger, Natalie Dormand, Elizabeth Drewe, David Edgar, William Egner, Wendy N. Erber, Marie Erwood, Tamara Everington, Remi Favier, Helen Firth, Debra Fletcher, James C. Fox, Amy Frary, Kathleen Freson, Bruce Furie, Abigail Furnell, Daniel Gale, Alice Gardham, Michael Gattens, Pavandeep K. Ghataorhe, Rohit Ghurye, Simon Gibbs, Kimberley Gilmour, Paul Gissen, Sarah Goddard, Keith Gomez, Pavel Gordins, Stefan Gräf, Daniel Greene, Alan Greenhalgh, Andreas Greinacher, Sofia Grigoriadou, Scott Hackett, Charaka Hadinnapola, Rosie Hague, Matthias Haimel, Csaba Halmagyi, Tracey Hammerton, Daniel Hart, Grant Hayman, Johan W.M. Heemskerk, Robert Henderson, Anke Hensiek, Yvonne Henskens, Archana Herwadkar, Fengyuan Hu, Aarnoud Huissoon, Marc Humbert, Roger James, Stephen Jolles, Rashid Kazmi, David Keeling, Peter Kelleher, Anne M. Kelly, Fiona Kennedy, David Kiely, Nathalie Kingston, Ania Koziell, Deepa Krishnakumar, Taco W. Kuijpers, Dinakantha Kumararatne, Manju Kurian, Michael A. Laffan, Michele P. Lambert, Hana Lango Allen, Allan Lawrie, Sara Lear, Claire Lentaigne, Ri Liesner, Rachel Linger, Hilary Longhurst, Lorena Lorenzo, Rajiv Machado, Rob Mackenzie, Robert MacLaren, Eamonn Maher, Jesmeen Maimaris, Sarah Mangles, Ania Manson, Rutendo Mapeta, Hugh S. Markus, Jennifer Martin, Larahmie Masati, Mary Mathias, Vera Matser, Anna Maw, Elizabeth McDermott, Coleen McJannet, Stuart Meacham, Sharon Meehan, Karyn Megy, Michel Michaelides, Carolyn M. Millar, Shahin Moledina, Anthony Moore, Nicholas Morrell, Andrew Mumford, Sai Murng, Elaine Murphy, Sergey Nejentsev, Sadia Noorani, Paquita Nurden, Eric Oksenhendler, Willem H. Ouwehand, Sofia Papadia, Alasdair Parker, John Pasi, Chris Patch, Jeanette Payne, Andrew Peacock, Kathelijne Peerlinck, Christopher J. Penkett, Joanna Pepke-Zaba, David J. Perry, Val Pollock, Gary Polwarth, Mark Ponsford, Waseem Qasim, Isabella Quinti, Stuart Rankin, Karola Rehnstrom, Evan Reid, Christopher J. Rhodes, Michael Richards, Sylvia Richardson, Alex Richter, Irene Roberts, Matthew Rondina, Catherine Roughley, Kevin Rue-Albrecht, Crina Samarghitean, Saikat Santra, Ravishankar Sargur, Sinisa Savic, Sol Schulman, Harald Schulze, Marie Scully, Suranjith Seneviratne, Carrock Sewell, Olga Shamardina, Debbie Shipley, Ilenia Simeoni, Suthesh Sivapalaratnam, Kenneth Smith, Aman Sohal, Laura Southgate, Simon Staines, Emily Staples, Hans Stauss, Penelope Stein, Jonathan Stephens, Kathleen Stirrups, Sophie Stock, Jay Suntharalingam, R. Campbell Tait, Kate Talks, Yvonne Tan, Jecko Thachil, James Thaventhiran, Ellen Thomas, Moira Thomas, Dorothy Thompson, Adrian Thrasher, Catherine Titterton, Cheng-Hock Toh, Mark Toshner, Carmen Treacy, Richard Trembath, Salih Tuna, Wojciech Turek, Ernest Turro, Chris Van Geet, Marijke Veltman, Julie von Ziegenweldt, Anton Vonk Noordegraaf, Ivy Wanjiku, Timothy Q. Warner, Hugh Watkins, Andrew Webster, Steve Welch, Sarah Westbury, John Wharton, Deborah Whitehorn, Martin Wilkins, Lisa Willcocks, Catherine Williamson, Geoffrey Woods, John Wort, Nigel Yeatman, Patrick Yong, Tim Young, Ping Yu, Paediatric Infectious Diseases / Rheumatology / Immunology, ARD - Amsterdam Reproduction and Development, Pediatric surgery, APH - Aging & Later Life, Molecular cell biology and Immunology, Pulmonary medicine, ACS - Pulmonary hypertension & thrombosis, and APH - Quality of Care
Subjects: 0301 basic medicine, Male, Adolescent, Loss of Heterozygosity, Context (language use), Postnatal microcephaly, Neurotransmission, medicine.disease_cause, Bioinformatics, Synaptic Transmission, Loss of heterozygosity, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Calcium Channels, N-Type, Report, Genetics, medicine, Humans, Child, Genetics (clinical), Mutation, Dyskinesias, business.industry, Infant, medicine.disease, Hypotonia, Pedigree, 030104 developmental biology, Dyskinesia, Child, Preschool, Calcium, Female, medicine.symptom, business, 030217 neurology & neurosurgery
Abstract: © 2019 American Society of Human Genetics The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.
Published: 2018

35. Introduction

Author: Alison Ross
Published: 2018

36. Revolution and History in Walter Benjamin

Author: Alison Ross
Published: 2018

37. Conclusion

Author: Alison Ross
Published: 2018

38. Revolution and Society

Author: Alison Ross
Subjects: Political science
Published: 2018

39. The Dream Metaphor

Author: Alison Ross
Subjects: Literature, Metaphor, business.industry, media_common.quotation_subject, Art, Dream, business, media_common
Published: 2018

40. Meaning and ‘Complete Security of Existence’

Author: Alison Ross
Subjects: Meaning (existential), Sociology, Epistemology
Published: 2018

41. Benjamin’s Theory of Historical Knowledge

Author: Alison Ross
Published: 2018

42. The Child

Author: Alison Ross
Published: 2018

43. The struggles of being Ernest

Author: Wimsatt, Alison Ross
Subjects: Industrial engineers -- Biography, Business, Engineering and manufacturing industries, Human resources and labor relations
Abstract: Industrial engineer-turned-manager A. Ernest Fitzgerald's dedication to truth and fairness has made him a prominent figure in Washington, DC. Born in Birmingham, AL, Fitzgerald's strong sense of ethics was once proven when he tried to expose the occurrence of mismanagement and fraud within the US Air Force. Such revelation forced Fitzgerald to relinquish his job as management systems deputy in the Office of the Assistant Secretary of the Air Force., As management systems deputy in the Office of the Assistant Secretary of the Air Force, A. Ernest Fitzgerald has undeniably paid a price for his tenacious truth-telling, at one time [...]
Published: 1999

44. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

Author: Víctor Faundes, William G. Newman, Laura Bernardini, Natalie Canham, Jill Clayton-Smith, Bruno Dallapiccola, Sally J. Davies, Michelle K. Demos, Amy Goldman, Harinder Gill, Rachel Horton, Bronwyn Kerr, Dhavendra Kumar, Anna Lehman, Shane McKee, Jenny Morton, Michael J. Parker, Julia Rankin, Lisa Robertson, I. Karen Temple, Siddharth Banka, Shelin Adam, Christèle du Souich, Alison M. Elliott, Jill Mwenifumbo, Tanya N. Nelson, Clara van Karnebeek, Jan M. Friedman, Jeremy F. McRae, Stephen Clayton, Tomas W. Fitzgerald, Joanna Kaplanis, Elena Prigmore, Diana Rajan, Alejandro Sifrim, Stuart Aitken, Nadia Akawi, Mohsan Alvi, Kirsty Ambridge, Daniel M. Barrett, Tanya Bayzetinova, Philip Jones, Wendy D. Jones, Daniel King, Netravathi Krishnappa, Laura E. Mason, Tarjinder Singh, Adrian R. Tivey, Munaza Ahmed, Uruj Anjum, Hayley Archer, Ruth Armstrong, Jana Awada, Meena Balasubramanian, Diana Baralle, Angela Barnicoat, Paul Batstone, David Baty, Chris Bennett, Jonathan Berg, Birgitta Bernhard, A. Paul Bevan, Maria Bitner-Glindzicz, Edward Blair, Moira Blyth, David Bohanna, Louise Bourdon, David Bourn, Lisa Bradley, Angela Brady, Simon Brent, Carole Brewer, Kate Brunstrom, David J. Bunyan, John Burn, Bruce Castle, Kate Chandler, Elena Chatzimichali, Deirdre Cilliers, Angus Clarke, Susan Clasper, Virginia Clowes, Andrea Coates, Trevor Cole, Irina Colgiu, Amanda Collins, Morag N. Collinson, Fiona Connell, Nicola Cooper, Helen Cox, Lara Cresswell, Gareth Cross, Yanick Crow, Mariella D’Alessandro, Tabib Dabir, Rosemarie Davidson, Sally Davies, Dylan de Vries, John Dean, Charu Deshpande, Gemma Devlin, Abhijit Dixit, Angus Dobbie, Alan Donaldson, Dian Donnai, Deirdre Donnelly, Carina Donnelly, Angela Douglas, Sofia Douzgou, Alexis Duncan, Jacqueline Eason, Sian Ellard, Ian Ellis, Frances Elmslie, Karenza Evans, Sarah Everest, Tina Fendick, Richard Fisher, Frances Flinter, Nicola Foulds, Andrew Fry, Alan Fryer, Carol Gardiner, Lorraine Gaunt, Neeti Ghali, Richard Gibbons, Judith Goodship, David Goudie, Emma Gray, Andrew Green, Philip Greene, Lynn Greenhalgh, Susan Gribble, Rachel Harrison, Lucy Harrison, Victoria Harrison, Rose Hawkins, Liu He, Stephen Hellens, Alex Henderson, Sarah Hewitt, Lucy Hildyard, Emma Hobson, Simon Holden, Muriel Holder, Susan Holder, Georgina Hollingsworth, Tessa Homfray, Mervyn Humphreys, Jane Hurst, Ben Hutton, Stuart Ingram, Melita Irving, Lily Islam, Andrew Jackson, Joanna Jarvis, Lucy Jenkins, Diana Johnson, Elizabeth Jones, Dragana Josifova, Shelagh Joss, Beckie Kaemba, Sandra Kazembe, Rosemary Kelsell, Helen Kingston, Usha Kini, Esther Kinning, Gail Kirby, Claire Kirk, Emma Kivuva, Alison Kraus, V.K. Ajith Kumar, Katherine Lachlan, Wayne Lam, Anne Lampe, Caroline Langman, Melissa Lees, Derek Lim, Cheryl Longman, Gordon Lowther, Sally A. Lynch, Alex Magee, Eddy Maher, Alison Male, Sahar Mansour, Karen Marks, Katherine Martin, Una Maye, Emma McCann, Vivienne McConnell, Meriel McEntagart, Ruth McGowan, Kirsten McKay, Dominic J. McMullan, Susan McNerlan, Catherine McWilliam, Sarju Mehta, Kay Metcalfe, Anna Middleton, Zosia Miedzybrodzka, Emma Miles, Shehla Mohammed, Tara Montgomery, David Moore, Sian Morgan, Hood Mugalaasi, Victoria Murday, Helen Murphy, Swati Naik, Andrea Nemeth, Louise Nevitt, Ruth Newbury-Ecob, Andrew Norman, Rosie O’Shea, Caroline Ogilvie, Kai-Ren Ong, Soo-Mi Park, Chirag Patel, Joan Paterson, Stewart Payne, Daniel Perrett, Julie Phipps, Daniela T. Pilz, Martin Pollard, Caroline Pottinger, Joanna Poulton, Norman Pratt, Katrina Prescott, Sue Price, Abigail Pridham, Annie Procter, Hellen Purnell, Oliver Quarrell, Nicola Ragge, Raheleh Rahbari, Josh Randall, Lucy Raymond, Debbie Rice, Leema Robert, Eileen Roberts, Jonathan Roberts, Paul Roberts, Gillian Roberts, Alison Ross, Elisabeth Rosser, Anand Saggar, Shalaka Samant, Julian Sampson, Richard Sandford, Ajoy Sarkar, Susann Schweiger, Richard Scott, Ingrid Scurr, Ann Selby, Anneke Seller, Cheryl Sequeira, Nora Shannon, Saba Sharif, Charles Shaw-Smith, Emma Shearing, Debbie Shears, Eamonn Sheridan, Ingrid Simonic, Roldan Singzon, Zara Skitt, Audrey Smith, Kath Smith, Sarah Smithson, Linda Sneddon, Miranda Splitt, Miranda Squires, Fiona Stewart, Helen Stewart, Volker Straub, Mohnish Suri, Vivienne Sutton, Ganesh Jawahar Swaminathan, Elizabeth Sweeney, Kate Tatton-Brown, Cat Taylor, Rohan Taylor, Mark Tein, Jenny Thomson, Marc Tischkowitz, Susan Tomkins, Audrey Torokwa, Becky Treacy, Claire Turner, Peter Turnpenny, Carolyn Tysoe, Anthony Vandersteen, Vinod Varghese, Pradeep Vasudevan, Parthiban Vijayarangakannan, Julie Vogt, Emma Wakeling, Sarah Wallwark, Jonathon Waters, Astrid Weber, Diana Wellesley, Margo Whiteford, Sara Widaa, Sarah Wilcox, Emily Wilkinson, Denise Williams, Nicola Williams, Louise Wilson, Geoff Woods, Christopher Wragg, Michael Wright, Laura Yates, Michael Yau, Chris Nellåker, Michael Parker, Helen V. Firth, Caroline F. Wright, David R. FitzPatrick, Jeffrey C. Barrett, and Matthew E. . Hurles
Subjects: 0301 basic medicine, ASH1L, Male, Methyltransferase, Adolescent, Histone lysine methylation, KMT5B, Developmental Disabilities, Haploinsufficiency, Biology, Compound heterozygosity, histone lysine methyltransferase, Chromatin remodeling, chromatin remodeling, 03 medical and health sciences, histone lysine demethylase, Report, Genetics, Humans, Child, Genetics (clinical), Regulation of gene expression, Histone Demethylases, Developmental disorders, KMT2C, KMT2B, Histone-Lysine N-Methyltransferase, 030104 developmental biology, Histone, Overgrowth syndrome, Child, Preschool, Mutation, biology.protein, KDM5B, Female
Abstract: Histone lysine methyltransferases (KMTs) and demethylases (KDMs) underpin gene regulation. Here we demonstrate that variants causing haploinsufficiency of KMTs and KDMs are frequently encountered in individuals with developmental disorders. Using a combination of human variation databases and existing animal models, we determine 22 KMTs and KDMs as additional candidates for dominantly inherited developmental disorders. We show that KMTs and KDMs that are associated with, or are candidates for, dominant developmental disorders tend to have a higher level of transcription, longer canonical transcripts, more interactors, and a higher number and more types of post-translational modifications than other KMT and KDMs. We provide evidence to firmly associate KMT2C, ASH1L, and KMT5B haploinsufficiency with dominant developmental disorders. Whereas KMT2C or ASH1L haploinsufficiency results in a predominantly neurodevelopmental phenotype with occasional physical anomalies, KMT5B mutations cause an overgrowth syndrome with intellectual disability. We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. Additionally, we describe a recessive histone lysine-methylation defect caused by homozygous or compound heterozygous KDM5B variants and resulting in a recognizable syndrome with developmental delay, facial dysmorphism, and camptodactyly. Collectively, these results emphasize the significance of histone lysine methylation in normal human development and the importance of this process in human developmental disorders. Our results demonstrate that systematic clinically oriented pathway-based analysis of genomic data can accelerate the discovery of rare genetic disorders.
Published: 2017

45. Historical Citation and Revolutionary Epistemology

Author: Alison Ross
Subjects: History, Vocabulary, media_common.quotation_subject, Wish, Meaning (non-linguistic), Legibility, Epistemology, Extension (metaphysics), History and Philosophy of Science, Perception, Sociology, Citation, Word (computer architecture), media_common
Abstract: This article defends the thesis that there are multiple points of exchange between the categories of “word” and “image” in Walter Benjamin’s Arcades Project. Benjamin describes the truth of the articulate wish of the past as “graphically perceptible” and the image as “readable.” In this respect the vocabulary of “word” and “image” that Benjamin’s early work had opposed are not just deployed in concert, but specific features of the vocabulary of “word” and “image” become exchangeable. The distinctive features of this exchange can be used to expound on Benjamin’s peculiar understanding of revolutionary experience and the significance of the break that it marks with his early way of opposing the word and the image. In particular, the exchange of features between word and image can explain the mechanics and intended effect of his idea that the meaning of history can be perceived in an image. The study of this exchange also shows that although the framework of “graphic perception” entails an experience of motivating meaning that is epistemologically grounded, the citation model of history is unable to secure the extension of the sought after legibility of the nineteenth century to a recipient.
Published: 2015

46. The Distinction between Mythic and Divine Violence: Walter Benjamin's 'Critique of Violence' from the Perspective of 'Goethe's Elective Affinities'

Author: Alison Ross
Subjects: Cultural Studies, General Arts and Humanities, Philosophy, Perspective (graphical), Affinities, Epistemology
Published: 2014

47. Publisher Correction: BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange–like syndrome

Author: Soo-Mi Park, Deciphering Developmental Disorders Study, Morad Ansari, James D.P. Rhodes, Alison Ross, Emma Wakeling, Nicola Carroll, Ana Blatnik, Fiona Stewart, Hemant Bengani, Graeme R. Grimes, Madapura M. Pradeepa, David R. FitzPatrick, Gabrielle Olley, Alex von Kriegsheim, and Wendy A. Bickmore
Subjects: 0301 basic medicine, Genetics, 03 medical and health sciences, 030104 developmental biology, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, NIPBL, 010501 environmental sciences, Biology, 01 natural sciences, 0105 earth and related environmental sciences
Abstract: In the version of this article initially published, Wendy Bickmore and Madapura Pradeepa were incorrectly not indicated as corresponding authors. The error has been corrected in the HTML and PDF versions of the paper.
Published: 2019

48. The Spotted Nightjar Calls When Dingo Pups Are Born: Ecological and Social Indicators In Central Australia

Author: Myfany Turpin, Veronica Dobson, Alison Ross, and M. K. Turner
Subjects: Ethnoornithology, biology, Range (biology), Ecology, Eurostopodus argus, Visitor pattern, Plant Science, biology.organism_classification, Anthropology, biology.animal, Spotted nightjar, Animal Science and Zoology, Dingo, Social indicators, Natural resource management
Abstract: Across cultures there are known signs that signal the availability of certain foods, predict the weather or warn people of impending events. In Central Australia the call of the spotted nightjar (Eurostopodus argus) signals the time when dingo pups are born. This article identifies indicator events known by speakers of the Arandic languages in Central Australia. Indicator events can be described as the presence or behavior of a particular species or phenomenon that signals some other species or phenomenon. Arandic people group these into five broad domains: indicators of food, water, weather, danger and news (e.g., an imminent visitor). A diverse range of ecological, meteorological and human (bodily) phenomena serve as indicators, with birds being the most prevalent. This study explores the basis of indicator events, finding both an ecological and cultural basis for many signs. It also draws attention to the significance of the indicator relationship in terms of how people make sense of co-occurring events around them. We also consider some implications for natural resource management and phenology.
Published: 2013

49. The Image

Author: Alison Ross
Subjects: Philosophy, Sociology and Political Science, Aesthetics, Semantic field, Image (mathematics)
Abstract: The concept of ‘the image’ can be given historical, conceptual, aesthetic and moral specifications. This essay sets out some of the scholarly issues in the dense semantic field of ‘the image’. In p...
Published: 2013

50. The Problem of the Image

Author: Alison Ross
Subjects: Philosophy, Sociology and Political Science, History of religions, Aesthetics, Allegory, Materiality (law), Early writing, Epistemology
Abstract: From the comparative framework of writing on the meaning of ritual in the field of the history of religions (M. Eliade and J. Z. Smith), this essay argues that one of the major problems in Benjamin’s thinking is how to make certain forms of materiality stand out against other (degraded) forms. In his early work, the way that Benjamin deals with this problem is to call degraded forms “symbolic”, and those forms of materiality with positive value, “allegorical”. The article shows how there is more than an incidental connection with the recent approach to ritual in the field of history of religions, seeing that Benjamin too wants to set out the significance of certain material forms against those that are “ritualistic” and hence false. It is argued that he treats the latter in his essay on Elective Affinities and the former in his Trauerspiel. The key claim is that the way material forms stand out as meaningful is akin to the Kantian description of the aesthetic attitude, which identifies how certain...
Published: 2013

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