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Year Number of Results
2015 6
2016 3
2017 5
2018 3
2019 5
2020 1
2021 1
2024 0

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22 results

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Page 1
Defects in the Exocyst-Cilia Machinery Cause Bicuspid Aortic Valve Disease and Aortic Stenosis.
Fulmer D, Toomer K, Guo L, Moore K, Glover J, Moore R, Stairley R, Lobo G, Zuo X, Dang Y, Su Y, Fogelgren B, Gerard P, Chung D, Heydarpour M, Mukherjee R, Body SC, Norris RA, Lipschutz JH. Fulmer D, et al. Circulation. 2019 Oct 15;140(16):1331-1341. doi: 10.1161/CIRCULATIONAHA.119.038376. Epub 2019 Aug 7. Circulation. 2019. PMID: 31387361 Free PMC article.
Primary cilia defects causing mitral valve prolapse.
Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Toomer KA, et al. Sci Transl Med. 2019 May 22;11(493):eaax0290. doi: 10.1126/scitranslmed.aax0290. Sci Transl Med. 2019. PMID: 31118289 Free PMC article.
Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse.
Yu M, Georges A, Tucker NR, Kyryachenko S, Toomer K, Schott JJ, Delling FN, Fernandez-Friera L, Solis J, Ellinor PT, Levine RA, Slaugenhaupt SA, Hagège AA, Dina C, Jeunemaitre X, Milan DJ, Norris RA, Bouatia-Naji N. Yu M, et al. Circ Genom Precis Med. 2019 May;12(5):e002497. doi: 10.1161/CIRCGEN.119.002497. Circ Genom Precis Med. 2019. PMID: 31112420 Free PMC article.
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ. Le Tourneau T, et al. Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505. Eur Heart J. 2018. PMID: 29020406 Free PMC article.
The exocyst is required for photoreceptor ciliogenesis and retinal development.
Lobo GP, Fulmer D, Guo L, Zuo X, Dang Y, Kim SH, Su Y, George K, Obert E, Fogelgren B, Nihalani D, Norris RA, Rohrer B, Lipschutz JH. Lobo GP, et al. J Biol Chem. 2017 Sep 8;292(36):14814-14826. doi: 10.1074/jbc.M117.795674. Epub 2017 Jul 20. J Biol Chem. 2017. PMID: 28729419 Free PMC article.
22 results