20 research outputs found

    Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.

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    Thyroid dysfunction is an important public health problem, which affects 10% of the general population and increases the risk of cardiovascular morbidity and mortality. Many aspects of thyroid hormone regulation have only partly been elucidated, including its transport, metabolism, and genetic determinants. Here we report a large meta-analysis of genome-wide association studies for thyroid function and dysfunction, testing 8 million genetic variants in up to 72,167 individuals. One-hundred-and-nine independent genetic variants are associated with these traits. A genetic risk score, calculated to assess their combined effects on clinical end points, shows significant associations with increased risk of both overt (Graves' disease) and subclinical thyroid disease, as well as clinical complications. By functional follow-up on selected signals, we identify a novel thyroid hormone transporter (SLC17A4) and a metabolizing enzyme (AADAT). Together, these results provide new knowledge about thyroid hormone physiology and disease, opening new possibilities for therapeutic targets

    Search for dark matter produced in association with bottom or top quarks in √s = 13 TeV pp collisions with the ATLAS detector

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    A search for weakly interacting massive particle dark matter produced in association with bottom or top quarks is presented. Final states containing third-generation quarks and miss- ing transverse momentum are considered. The analysis uses 36.1 fb−1 of proton–proton collision data recorded by the ATLAS experiment at √s = 13 TeV in 2015 and 2016. No significant excess of events above the estimated backgrounds is observed. The results are in- terpreted in the framework of simplified models of spin-0 dark-matter mediators. For colour- neutral spin-0 mediators produced in association with top quarks and decaying into a pair of dark-matter particles, mediator masses below 50 GeV are excluded assuming a dark-matter candidate mass of 1 GeV and unitary couplings. For scalar and pseudoscalar mediators produced in association with bottom quarks, the search sets limits on the production cross- section of 300 times the predicted rate for mediators with masses between 10 and 50 GeV and assuming a dark-matter mass of 1 GeV and unitary coupling. Constraints on colour- charged scalar simplified models are also presented. Assuming a dark-matter particle mass of 35 GeV, mediator particles with mass below 1.1 TeV are excluded for couplings yielding a dark-matter relic density consistent with measurements

    Measurement of jet fragmentation in Pb+Pb and pppp collisions at sNN=2.76\sqrt{{s_\mathrm{NN}}} = 2.76 TeV with the ATLAS detector at the LHC

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    Über Blütenbau und Verwandschaft des Strandlings, Litorella lacustris L.

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    Ausbildungsbegleitende Hilfen repraesentative Aussagen zu Problembereichen, innovativen Ansaetzen und Umsetzungsmoeglichkeiten

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    SIGLEIAB / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekDEGerman

    Primary 23-gauge sutureless vitrectomy for rhegmatogenous retinal detachment

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    Aims : To report a prospective non-comparative consecutive interventional study on the safety and efficacy of 23-Gauge transconjunctival sutureless pars plana vitrectomy for primary rhegmatogenous retinal detachment (RRD). Materials and Methods: Fifty eyes of 50 consecutive patients were recruited between June 2007 and January 2008. All surgeries were performed using the one-step 23-Gauge system with angled incisions. The surgical protocol consisted of a minimum of eight clinical visits: baseline, 1 day, 1 week, 1-, 3- and 6- months after the initial surgery. The endpoints were anatomical, functional results and complications arising from the surgery. Results : Anatomical success was achieved in 82% of cases (41 out of 50) with single surgery and rose to 98% (49 out of 50) with additional surgery. Mean visual acuity improved from logMAR 0.48(SD 0.36) to 0.26(SD 0.31), P < 0.001. Two cases with ocular hypotony, defined as an intraocular pressure 6mmHg, that were associated with a choroidal detachment were seen. Conclusions : Acceptable anatomical and functional success rates can be achieved with primary 23-Gauge transconjunctival sutureless vitrectomy for RRD. We found that the approach technique is different from conventional vitrectomy and the complications arising from post surgical hypotony and leakage from sclerotomies are potentially higher compared to 20-Gauge vitrectomy.link_to_subscribed_fulltex

    Placentation in angiosperms

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