Risultati della ricerca - Susan Redline

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    Rare variants in fox-1 homolog A (RBFOX1) are associated with lower blood pressure. di Karen Y He, Heming Wang, Brian E Cade, Priyanka Nandakumar, Ayush Giri, Erin B Ware, Jeffrey Haessler, Jingjing Liang, Jennifer A Smith, Nora Franceschini, Thu H Le, Charles Kooperberg, Todd L Edwards, Sharon L R Kardia, Xihong Lin, Aravinda Chakravarti, Susan Redline, Xiaofeng Zhu

    Pubblicazione 2017-03-01

    Many large genome-wide association studies (GWAS) have identified common blood pressure (BP) variants. However, most of the identified BP variants do not overlap with the linkage evidence observed from family studies. We thus hypothesize that multiple rare variants contribute to the observed linkage...

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    The impact of Mendelian sleep and circadian genetic variants in a population setting. di Michael N Weedon, Samuel E Jones, Jacqueline M Lane, Jiwon Lee, Hanna M Ollila, Amy Dawes, Jess Tyrrell, Robin N Beaumont, Timo Partonen, Ilona Merikanto, Stephen S Rich, Jerome I Rotter, Timothy M Frayling, Martin K Rutter, Susan Redline, Tamar Sofer, Richa Saxena, Andrew R Wood

    Pubblicazione 2022-09-01

    Rare variants in ten genes have been reported to cause Mendelian sleep conditions characterised by extreme sleep duration or timing. These include familial natural short sleep (ADRB1, DEC2/BHLHE41, GRM1 and NPSR1), advanced sleep phase (PER2, PER3, CRY2, CSNK1D and TIMELESS) and delayed sleep phase...

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