39 research outputs found

    Typological parameters of genericity

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    Different languages employ different morphosyntactic devices for expressing genericity. And, of course, they also make use of different morphosyntactic and semantic or pragmatic cues which may contribute to the interpretation of a sentence as generic rather than episodic. [...] We will advance the strong hypo thesis that it is a fundamental property of lexical elements in natural language that they are neutral with respect to different modes of reference or non-reference. That is, we reject the idea that a certain use of a lexical element, e.g. a use which allows reference to particular spatio-temporally bounded objects in the world, should be linguistically prior to all other possible uses, e.g. to generic and non-specific uses. From this it follows that we do not consider generic uses as derived from non-generic uses as it is occasionally assumed in the literature. Rather, we regard these two possibilities of use as equivalent alternative uses of lexical elements. The typological differences to be noted therefore concern the formal and semantic relationship of generic and non-generic uses to each other; they do not pertain to the question of whether lexical elements are predetermined for one of these two uses. Even supposing we found a language where generic uses are always zero-marked and identical to lexical sterns, we would still not assume that lexical elements in this language primarily have a generic use from which the non-generic uses are derived. (Incidentally, none of the languages examined, not even Vietnamese, meets this criterion.

    Qualities, objects, sorts, and other treasures : gold digging in English and Arabic

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    In the present monograph, we will deal with questions of lexical typology in the nominal domain. By the term "lexical typology in the nominal domain", we refer to crosslinguistic regularities in the interaction between (a) those areas of the lexicon whose elements are capable of being used in the construction of "referring phrases" or "terms" and (b) the grammatical patterns in which these elements are involved. In the traditional analyses of a language such as English, such phrases are called "nominal phrases". In the study of the lexical aspects of the relevant domain, however, we will not confine ourselves to the investigation of "nouns" and "pronouns" but intend to take into consideration all those parts of speech which systematically alternate with nouns, either as heads or as modifiers of nominal phrases. In particular, this holds true for adjectives both in English and in other Standard European Languages. It is well known that adjectives are often difficult to distinguish from nouns, or that elements with an overt adjectival marker are used interchangeably with nouns, especially in particular semantic fields such as those denoting MATERIALS or NATlONALlTIES. That is, throughout this work the expression "lexical typology in the nominal domain" should not be interpreted as "a typology of nouns", but, rather, as the cross-linguistic investigation of lexical areas constitutive for "referring phrases" irrespective of how the parts-of-speech system in a specific language is defined

    Lexical typology : a programmatic sketch

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    The present paper is an attempt to lay the foundation for Lexical Typology as a new kind of linguistic typology.1 The goal of Lexical Typology is to investigate crosslinguistically significant patterns of interaction between lexicon and grammar

    Einleitung: Empirische Argumentationstheorie

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    Im weiteren Teil dieses Einleitungsartikels werde ich […] auf einige offene Fragen in der Argumentationstheorie generell eingehen und dann auf solche, die speziell durch die beiden Arbeiten in diesem Arbeitspapier aufgeworfen wurden. Danach werde ich auf die Wahl des Datenmaterials eingehen und auf die speziellen Probleme, die das gewählte Medium (Internet-Forum) mit sich bringt. Anschließend werden sowohl konvergente als auch divergente Ergebnisse der beiden Arbeiten diskutiert, letztere insbesondere in Hinblick auf die Frage, ob sie durch den unterschiedlichen Diskussionsgegenstand bedingt sind. Zum Schluss werden dann noch einige terminologische Details angesprochen

    Argumentieren im Internet : Zwei argumentationstheoretische Analysen

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    Dieses Arbeitspapier geht aus einem Hauptseminar zur Argumentationstheorie hervor, das [von Leila Behrens] im Wintersemester 2008/09 am Institut für Linguistik der Universität zu Köln gehalten [wurde]. In den beiden Arbeiten in diesem Band (Badtke et al. und Benning et al.) stellen die Studierenden dieses Hauptseminars die Ergebnisse vor, die sie (in zwei parallelen Projektgruppen mit unterschiedlichen Diskussionsgegenständen) bei der empirischen Analyse von Argumentationen in einem Internet-Forum gewonnen haben. Der Gegenstand der Diskussion betraf bei der einen Gruppe (Badtke et al.) die Unabhängigkeit des Kosovo, bei der anderen Gruppe (Benning et al.) die Einführung eines generellen Rauchverbots in europäischen Hauptstädten

    Konservierung von Stereotypen mit Hilfe der Statistik : Geert Hofstede und sein kulturvergleichendes Modell

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    Die vorliegende Arbeit ist eine kritische Auseinandersetzung mit dem Hofstedeschen Ansatz. Dabei soll in erster Linie das Werk von Hofstede selbst einer wissenschaftstheoretisch-methodologischen Prüfung unterzogen werden. Bei sehr populären Standardansätzen, die sowohl in der Praxis einen großen Anklang finden als auch in der wissenschaftlichen Gemeinschaft ständig rezipiert und weiterentwickelt werden, bleibt es natürlich nicht aus, dass durch Vereinfachungen oder Uminterpretationen in der Literatur Inkonsistenzen entstehen, die so im Originalwerk nicht enthalten sind. In dieser Arbeit soll es im Wesentlichen nicht um solche Probleme der Hofstedeschen Rezeption gehen. Vielmehr werde ich die Argumentation von Hofstede selbst in seinen eigenen Schriften […] einer detaillierten kritischen Analyse zu unterziehen, um auf diese Weise zu prüfen, ob bestimmte gravierende Probleme schon im Originalwerk angelegt sind

    Breast cancer risks associated with missense variants in breast cancer susceptibility genes

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    BACKGROUND: Protein truncating variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2 are associated with increased breast cancer risk, but risks associated with missense variants in these genes are uncertain. METHODS: We analyzed data on 59,639 breast cancer cases and 53,165 controls from studies participating in the Breast Cancer Association Consortium BRIDGES project. We sampled training (80%) and validation (20%) sets to analyze rare missense variants in ATM (1146 training variants), BRCA1 (644), BRCA2 (1425), CHEK2 (325), and PALB2 (472). We evaluated breast cancer risks according to five in silico prediction-of-deleteriousness algorithms, functional protein domain, and frequency, using logistic regression models and also mixture models in which a subset of variants was assumed to be risk-associated. RESULTS: The most predictive in silico algorithms were Helix (BRCA1, BRCA2 and CHEK2) and CADD (ATM). Increased risks appeared restricted to functional protein domains for ATM (FAT and PIK domains) and BRCA1 (RING and BRCT domains). For ATM, BRCA1, and BRCA2, data were compatible with small subsets (approximately 7%, 2%, and 0.6%, respectively) of rare missense variants giving similar risk to those of protein truncating variants in the same gene. For CHEK2, data were more consistent with a large fraction (approximately 60%) of rare missense variants giving a lower risk (OR 1.75, 95% CI (1.47-2.08)) than CHEK2 protein truncating variants. There was little evidence for an association with risk for missense variants in PALB2. The best fitting models were well calibrated in the validation set. CONCLUSIONS: These results will inform risk prediction models and the selection of candidate variants for functional assays and could contribute to the clinical reporting of gene panel testing for breast cancer susceptibility

    The impact of coding germline variants on contralateral breast cancer risk and survival

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    Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, RAD51D, and TP53) and 25 suspected BC-susceptibility genes with CBC risk and BCSS. Hazard ratios (HRs) and 95% confidence intervals (CIs) were estimated with Cox regression models. Analyses included 34,401 women of European ancestry diagnosed with BC, including 676 CBCs and 3,449 BC deaths; the median follow-up was 10.9 years. Subtype analyses were based on estrogen receptor (ER) status of the first BC. Combined PTVs and pathogenic/likely pathogenic MSVs in BRCA1, BRCA2, and TP53 and PTVs in CHEK2 and PALB2 were associated with increased CBC risk [HRs (95% CIs): 2.88 (1.70–4.87), 2.31 (1.39–3.85), 8.29 (2.53–27.21), 2.25 (1.55–3.27), and 2.67 (1.33–5.35), respectively]. The strongest evidence of association with BCSS was for PTVs and pathogenic/likely pathogenic MSVs in BRCA2 (ER-positive BC) and TP53 and PTVs in CHEK2 [HRs (95% CIs): 1.53 (1.13–2.07), 2.08 (0.95–4.57), and 1.39 (1.13–1.72), respectively, after adjusting for tumor characteristics and treatment]. HRs were essentially unchanged when censoring for CBC, suggesting that these associations are not completely explained by increased CBC risk, tumor characteristics, or treatment. There was limited evidence of associations of PTVs and/or rare MSVs with CBC risk or BCSS for the 25 suspected BC genes. The CBC findings are relevant to treatment decisions, follow-up, and screening after BC diagnosis.</p

    Rare germline copy number variants (CNVs) and breast cancer risk.

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    Funder: CIHRGermline copy number variants (CNVs) are pervasive in the human genome but potential disease associations with rare CNVs have not been comprehensively assessed in large datasets. We analysed rare CNVs in genes and non-coding regions for 86,788 breast cancer cases and 76,122 controls of European ancestry with genome-wide array data. Gene burden tests detected the strongest association for deletions in BRCA1 (P = 3.7E-18). Nine other genes were associated with a p-value < 0.01 including known susceptibility genes CHEK2 (P = 0.0008), ATM (P = 0.002) and BRCA2 (P = 0.008). Outside the known genes we detected associations with p-values < 0.001 for either overall or subtype-specific breast cancer at nine deletion regions and four duplication regions. Three of the deletion regions were in established common susceptibility loci. To the best of our knowledge, this is the first genome-wide analysis of rare CNVs in a large breast cancer case-control dataset. We detected associations with exonic deletions in established breast cancer susceptibility genes. We also detected suggestive associations with non-coding CNVs in known and novel loci with large effects sizes. Larger sample sizes will be required to reach robust levels of statistical significance
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