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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. Among authors: norris ra. 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.
Mutations in DCHS1 cause mitral valve prolapse.
Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Durst R, et al. Among authors: norris ra. Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10. Nature. 2015. PMID: 26258302 Free PMC article.
Genetic association analyses highlight biological pathways underlying mitral valve prolapse.
Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J; PROMESA investigators; Le Tourneau T, Chen MH, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA; MVP-France; Jeunemaitre X; Leducq Transatlantic MITRAL Network. Dina C, et al. Among authors: norris ra. Nat Genet. 2015 Oct;47(10):1206-11. doi: 10.1038/ng.3383. Epub 2015 Aug 24. Nat Genet. 2015. PMID: 26301497 Free PMC article.
Increased Infiltration of Extra-Cardiac Cells in Myxomatous Valve Disease.
Sauls K, Toomer K, Williams K, Johnson AJ, Markwald RR, Hajdu Z, Norris RA. Sauls K, et al. Among authors: norris ra. J Cardiovasc Dev Dis. 2015 Sep;2(3):200-213. doi: 10.3390/jcdd2030200. Epub 2015 Jul 24. J Cardiovasc Dev Dis. 2015. PMID: 26473162 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: norris ra. 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: norris ra. 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.
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. Among authors: norris ra. 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.
107 results