Dataset Information

Novartis Institute for Biomedical Research (NIBR), Novartis AG

ABSTRACT: Organisation EGAO00000000730

PROVIDER: EGAO00000000730 | EGA |

REPOSITORIES: EGA

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Publications

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.

Brykczynska Urszula U Pecho-Vrieseling Eline E Thiemeyer Anke A Klein Jessica J Fruh Isabelle I Doll Thierry T Manneville Carole C Fuchs Sascha S Iazeolla Mariavittoria M Beibel Martin M Roma Guglielmo G Naumann Ulrike U Kelley Nicholas N Oakeley Edward J EJ Mueller Matthias M Gomez-Mancilla Baltazar B Bühler Marc M Tabolacci Elisabetta E Chiurazzi Pietro P Neri Giovanni G Bouwmeester Tewis T Di Giorgio Francesco Paolo FP Fodor Barna D BD

Stem cell reports 20161110 6

In fragile X syndrome (FXS), CGG repeat expansion greater than 200 triplets is believed to trigger FMR1 gene silencing and disease etiology. However, FXS siblings have been identified with more than 200 CGGs, termed unmethylated full mutation (UFM) carriers, without gene silencing and disease symptoms. Here, we show that hypomethylation of the FMR1 promoter is maintained in induced pluripotent stem cells (iPSCs) derived from two UFM individuals. However, a subset of iPSC clones with large CGG ex ...[more]

PMID: 27840045

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Project description:ObjectiveScientific authorship is a vital marker of achievement in academic careers and gender equity is a key performance metric in research. However, there is little understanding of gender equity in publications in biomedical research centres funded by the National Institute for Health Research (NIHR). This study assesses the gender parity in scientific authorship of biomedical research.DesignDescriptive, cross-sectional, retrospective bibliometric study.SettingNIHR Oxford Biomedical Research Centre (BRC).DataData comprised 2409 publications that were either accepted or published between April 2012 and March 2017. The publications were classified as basic science studies, clinical studies (both trial and non-trial studies) and other studies (comments, editorials, systematic reviews, reviews, opinions, book chapters, meeting reports, guidelines and protocols).Main outcome measuresGender of authors, defined as a binary variable comprising either male or female categories, in six authorship categories: first author, joint first authors, first corresponding author, joint corresponding authors, last author and joint last authors.ResultsPublications comprised 39% clinical research (n=939), 27% basic research (n=643) and 34% other types of research (n=827). The proportion of female authors as first author (41%), first corresponding authors (34%) and last author (23%) was statistically significantly lower than male authors in these authorship categories (p<0.001). Of total joint first authors (n=458), joint corresponding authors (n=169) and joint last authors (n=229), female only authors comprised statistically significant (p<0.001) smaller proportions, that is, 15% (n=69), 29% (n=49) and 10% (n=23) respectively, compared with male only authors in these joint authorship categories. There was a statistically significant association between gender of the last author with gender of the first author (p<0.001), first corresponding author (p<0.001) and joint last author (p<0.001). The mean journal impact factor (JIF) was statistically significantly higher when the first corresponding author was male compared with female (Mean JIF: 10.00 vs 8.77, p=0.020); however, the JIF was not statistically different when there were male and female authors as first authors and last authors.ConclusionsAlthough the proportion of female authors is significantly lower than the proportion of male authors in all six categories of authorship analysed, the proportions of male and female last authors are comparable to their respective proportions as principal investigators in the BRC. These findings suggest positive trends and the NIHR Oxford BRC doing very well in gender parity in the senior (last) authorship category. Male corresponding authors are more likely to publish articles in prestigious journals with high impact factor while both male and female authors at first and last authorship positions publish articles in equally prestigious journals.

Project description:BackgroundThe evaluation of translational health research is important for various reasons such as the research impact assessment, research funding allocation, accountability, and strategic research policy formulation. The purpose of this study was to evaluate the research productivity, strength and diversity of research collaboration networks and impact of research supported by a large biomedical research centre in the United Kingdom (UK).MethodsBibliometric analysis of research publications by translational researchers affiliated with the National Institute for Health Research (NIHR) Oxford Biomedical Research Centre (BRC) from April 2012 to March 2017.ResultsAnalysis included 2377 translational research publications that were published during the second 5-year funding period of the NIHR Oxford BRC. Author details were available for 99.75% of the publications with DOIs (2359 of 2365 with DOIs), and the number of authors per publication was median 9 (mean = 18.03, SD = 3.63, maximum = 2467 authors). Author lists also contained many consortia, groups, committees, and teams (n = 165 in total), with 1238 additional contributors, where membership was reported. The BRC co-authorship i.e., research collaboration network for these publications involved 20,229 nodes (authors, of which 1606 nodes had Oxford affiliations), and approximately 4.3 million edges (authorship linkages). Articles with a valid DOIs (2365 of 2377, 99.5%) were collectively cited more than 155,000 times and the average Field Citation Ratio was median 6.75 (geometric mean = 7.12) while the average Relative Citation Ratio was median 1.50 (geometric mean = 1.83) for the analysed publications.ConclusionsThe NIHR Oxford BRC generated substantial translational research publications and facilitated a huge collaborative network of translational researchers working in complex structures and consortia, which shows success across the whole of this BRC funding period. Further research involving continued uptake of unique persistent identifiers and the tracking of other research outputs such as clinical innovations and patents would allow a more detailed understanding of large research enterprises such as NIHR BRCs in the UK.

Dataset Information

Novartis Institute for Biomedical Research (NIBR), Novartis AG

Publications

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.

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