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Page 1
Desert hedgehog-primary cilia cross talk shapes mitral valve tissue by organizing smooth muscle actin.
Fulmer D, Toomer KA, Glover J, Guo L, Moore K, Moore R, Stairley R, Gensemer C, Abrol S, Rumph MK, Emetu F, Lipschutz JH, McDowell C, Bian J, Wang C, Beck T, Wessels A, Renault MA, Norris RA. Fulmer D, et al. Among authors: toomer ka. Dev Biol. 2020 Jul 1;463(1):26-38. doi: 10.1016/j.ydbio.2020.03.003. Epub 2020 Mar 6. Dev Biol. 2020. PMID: 32151560 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. 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.
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.
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. Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10. Nature. 2015. PMID: 26258302 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.
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. 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.
14 results