39 research outputs found

    MAP1B mutations cause intellectual disability and extensive white matter deficit

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    Publisher's version (útgefin grein). Publisher's note: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.Discovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Wholegenome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large pedigree (genome-wide corrected P = 0.022). Additional stop-gain variants in MAP1B (E1032Ter and R1664Ter) validate the association with ID and IQ. Carriers have 24% less white matter (WM) volume (β = −2.1SD, P = 5.1 × 10−8), 47% less corpus callosum (CC) volume (β = −2.4SD, P = 5.5 × 10−10) and lower brain-wide fractional anisotropy (P = 6.7 × 10−4). In summary, we show that loss of MAP1B function affects general cognitive ability through a profound, brain-wide WM deficit with likely disordered or compromised axons.We are grateful to the participants and we thank the psychologists, nurses and staff, in particular Berglind Eiriksdottir, at the Research Recruitment Center and technicians and staff at Röntgen Domus. We also thank the staff at deCODE genetics core facilities and all our colleagues for their important contribution to this work. L.J. received support from the Swedish Society of Medicine, the Swedish Brain Foundation and Swedish Society for Medical Research. The research leading to these results has received support from the Innovative Medicines Initiative Joint Undertaking under grant agreements’ no. 115008 (NEWMEDS) and no. 115300 (EUAIMS) of which resources are composed of EFPIA in-kind contribution and financial contribution from the European Union’s Seventh Framework Programme (EU-FP7/2007-2013), EU-FP7 funded grant no. 602450 (IMAGEMEND) and EU funded FP7-People-2011-IAPP grant agreement no. 286213 (PsychDPC).Peer Reviewe

    Some notes on Myriophyllum spicatum

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    Volume: 63Start Page: 139End Page: 14

    Cytotaxonomy of the Isoetes echinospora Complex

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    Volume: 52Start Page: 113End Page: 12

    emersa

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    Persicaria amphibia var. emersa (Michaux) J.C. Hickmanlong-root smartweedrenouée émergéePolygonum coccineumVivianmeado

    vulgaris

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    Hippuris vulgaris Linnaeuscommon mare's-tailhippuride vulgaire;queue de cheval;hippure vulgaire;pesse d'eau;pesse vulgaire;pesse communeDelta; south of Huddlestone railroa

    palustris

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    Eleocharis palustris (Linnaeus) Roemer & Schultescommon spikerush;marsh spikerush;creeping spikerush;Small's spikerushéléocharide des marais;éléocharide de Small;héléocharis des marais;scirpe des maraisEleocharis palustrisDelta pasturesalt mars

    septentrionale?

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    Sisyrinchium septentrionale E.P. Bicknell?northern blue-eyed-grass?bermudienne septentrionale?Sisyrinchium bermudiana2 mls W of Sidneyprairie meado

    Some new combinations in the Icelandic flora

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    Volume: 50Start Page: 171End Page: 17

    incisum

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    Lithospermum incisum Lehmannnarrow-leaved puccoon;fringed puccoon;narrow-leaved gromwell;narrow-leaved stoneseed;fringed gromwell;incised puccoon;yellow gromwellgrémil inciséLithospermum incisum2 mls W of Sidneyprairie meado

    smithii

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    Pascopyrum smithii (Rydberg) Barkworth & D.R. Deweywestern wheatgrassElytrigia smithiiKings Park, Westminster Ave.roadsid
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