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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. Among authors: body s. Sci Transl Med. 2019 May 22;11(493):eaax0290. doi: 10.1126/scitranslmed.aax0290. Sci Transl Med. 2019. PMID: 31118289 Free PMC article.
Embryonic Development of the Bicuspid Aortic Valve.
Martin PS, Kloesel B, Norris RA, Lindsay M, Milan D, Body SC. Martin PS, et al. Among authors: body sc. J Cardiovasc Dev Dis. 2015 Dec;2(4):248-272. doi: 10.3390/jcdd2040248. Epub 2015 Oct 2. J Cardiovasc Dev Dis. 2015. PMID: 28529942 Free PMC article.
A role for primary cilia in aortic valve development and disease.
Toomer KA, Fulmer D, Guo L, Drohan A, Peterson N, Swanson P, Brooks B, Mukherjee R, Body S, Lipschutz JH, Wessels A, Norris RA. Toomer KA, et al. Among authors: body s. Dev Dyn. 2017 Aug;246(8):625-634. doi: 10.1002/dvdy.24524. Epub 2017 Jun 28. Dev Dyn. 2017. PMID: 28556366 Free PMC article.
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.
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Roselli C, Yu M, Nauffal V, Georges A, Yang Q, Love K, Weng LC, Delling FN, Maurya SR, Schrölkamp M, Tfelt-Hansen J, Hagège A, Jeunemaitre X, Debette S, Amouyel P, Guan W, Muehlschlegel JD, Body SC, Shah S, Samad Z, Kyryachenko S, Haynes C, Rienstra M, Le Tourneau T, Probst V, Roussel R, Wijdh-Den Hamer IJ, Siland JE, Knowlton KU, Jacques Schott J, Levine RA, Benjamin EJ, Vasan RS, Horne BD, Muhlestein JB, Benfari G, Enriquez-Sarano M, Natale A, Mohanty S, Trivedi C, Shoemaker MB, Yoneda ZT, Wells QS, Baker MT, Farber-Eger E, Michelena HI, Lundby A, Norris RA, Slaugenhaupt SA, Dina C, Lubitz SA, Bouatia-Naji N, Ellinor PT, Milan DJ. Roselli C, et al. Among authors: body sc. Eur Heart J. 2022 May 1;43(17):1668-1680. doi: 10.1093/eurheartj/ehac049. Eur Heart J. 2022. PMID: 35245370 Free PMC article.
Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease.
Guauque-Olarte S, Messika-Zeitoun D, Droit A, Lamontagne M, Tremblay-Marchand J, Lavoie-Charland E, Gaudreault N, Arsenault BJ, Dubé MP, Tardif JC, Body SC, Seidman JG, Boileau C, Mathieu P, Pibarot P, Bossé Y. Guauque-Olarte S, et al. Among authors: body sc. Circ Cardiovasc Genet. 2015 Dec;8(6):812-22. doi: 10.1161/CIRCGENETICS.115.001145. Epub 2015 Nov 9. Circ Cardiovasc Genet. 2015. PMID: 26553695 Free PMC article. Clinical Trial.
Genome-wide analysis yields new loci associating with aortic valve stenosis.
Helgadottir A, Thorleifsson G, Gretarsdottir S, Stefansson OA, Tragante V, Thorolfsdottir RB, Jonsdottir I, Bjornsson T, Steinthorsdottir V, Verweij N, Nielsen JB, Zhou W, Folkersen L, Martinsson A, Heydarpour M, Prakash S, Oskarsson G, Gudbjartsson T, Geirsson A, Olafsson I, Sigurdsson EL, Almgren P, Melander O, Franco-Cereceda A, Hamsten A, Fritsche L, Lin M, Yang B, Hornsby W, Guo D, Brummett CM, Abecasis G, Mathis M, Milewicz D, Body SC, Eriksson P, Willer CJ, Hveem K, Newton-Cheh C, Smith JG, Danielsen R, Thorgeirsson G, Thorsteinsdottir U, Gudbjartsson DF, Holm H, Stefansson K. Helgadottir A, et al. Among authors: body sc. Nat Commun. 2018 Mar 7;9(1):987. doi: 10.1038/s41467-018-03252-6. Nat Commun. 2018. PMID: 29511194 Free PMC article.
263 results