15 research outputs found

    Democratization and gender-neutrality in English(es)

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    "Democratization" and "gender-neutrality" are two concepts commonly used in recent studies on language variation. While both concepts link linguistic phenomena to sociocultural changes, the extent to which they overlap and/or interact has not been studied in detail. In particular, not much is known about how linguistic changes related to democratization and gender-neutrality spread across registers or varieties of English, as well as whether speakers are aware of the changes that are taking place. In this paper we review the main theoretical issues regarding these concepts and relate them to the main findings in the articles in this issue, all of which study lexical and grammatical variation from a corpus-based perspective. Taken together, they help unveil some of the conscious and unconscious mechanisms that operate at the interface between democratization and gender-neutrality.Peer reviewe

    Finishing the euchromatic sequence of the human genome

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    The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∌99% of the euchromatic genome and is accurate to an error rate of ∌1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

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

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    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.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    'Doing femininity' at work : more than just relational practice

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    Workplaces constitute one of the more interesting sites where individuals ‘do gender’, while at the same time constructing their professional identities and meeting their organisation's expectations. Drawing on interactional data recorded in New Zealand professional organisations, this paper focuses in particular on how participants manage and interpret the notion of ‘femininity’ in workplace discourse. In much current usage, the concepts ‘feminine’ and ‘femininity’ typically evoke negative reactions. Our analysis suggests these notions can be reclaimed and reinterpreted positively using an approach which frames doing femininity at work as normal, unmarked, and effective workplace behaviour in many contexts. The analysis also demonstrates that multiple femininities extend beyond normative expectations, such as enacting relational practice (Fletcher 1999), to embrace more contestive and parodic instantiations of femininity in workplace talk

    GĂȘnero ilimitado: a construção discursiva da identidade travesti atravĂ©s da manipulação do sistema de gĂȘnero gramatical Unlimited gender: the discursive construction of the travesti identity through the manipulation of the grammatical gender system

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    Este estudo investiga a manipulação do sistema de gĂȘnero gramatical entre travestis profissionais do sexo do Sul do Brasil. Verificou-se que hĂĄ uma preferĂȘncia ĂȘmica do grupo por formas gramaticais femininas. PorĂ©m, as tensĂ”es ideolĂłgicas e corporais que circundam as travestis forçam-nas a utilizar o masculino em contextos especĂ­ficos. As travestis empregam o masculino gramatical para 1) produzir narrativas sobre o perĂ­odo anterior Ă s suas transformaçÔes corporais; 2) reportar discursos produzidos por outros ao falar de travestis; 3) falar de si em suas relaçÔes familiares; e 4) distinguir-se de outras travestis com as quais as falantes nĂŁo se identificam. Assim, o estudo demonstra como essas travestis usam o gĂȘnero gramatical do PortuguĂȘs como um recurso lingĂŒĂ­stico para manipular suas identidades e as identidades da comunidade a que pertencem.<br>This study investigates Southern Brazilian traveestis' manipulation of the Portuguese grammatical gender system. During field work, it was verified that feminine forms are the preferred choice in the group. However, ideological and bodily tensions that surround travestis seem to force them to make use of masculine forms in specific discursive contexts. Travestis use masculine forms 1) to produce narratives about the time before their body modifications took place; 2) to report speech produced by others when talking about transvestites; 3) to talk about themselves within their family relationships; and 4) to distinguish themselves from 'other' travestis they do not identify with. Thus, the study shows how Southern Brazilian travestis use the Brazilian Portuguese grammatical gender system as a resource to manipulate their identities and the identities of the community they belong to
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