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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: lipschutz jh. 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.
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: lipschutz jh. 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.
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: lipschutz jh. Sci Transl Med. 2019 May 22;11(493):eaax0290. doi: 10.1126/scitranslmed.aax0290. Sci Transl Med. 2019. PMID: 31118289 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: lipschutz jh. 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.
Arl13b and the exocyst interact synergistically in ciliogenesis.
Seixas C, Choi SY, Polgar N, Umberger NL, East MP, Zuo X, Moreiras H, Ghossoub R, Benmerah A, Kahn RA, Fogelgren B, Caspary T, Lipschutz JH, Barral DC. Seixas C, et al. Among authors: lipschutz jh. Mol Biol Cell. 2016 Jan 15;27(2):308-20. doi: 10.1091/mbc.E15-02-0061. Epub 2015 Nov 18. Mol Biol Cell. 2016. PMID: 26582389 Free PMC article.
Disruption of the exocyst induces podocyte loss and dysfunction.
Nihalani D, Solanki AK, Arif E, Srivastava P, Rahman B, Zuo X, Dang Y, Fogelgren B, Fermin D, Gillies CE, Sampson MG, Lipschutz JH. Nihalani D, et al. Among authors: lipschutz jh. J Biol Chem. 2019 Jun 28;294(26):10104-10119. doi: 10.1074/jbc.RA119.008362. Epub 2019 May 9. J Biol Chem. 2019. PMID: 31073028 Free PMC article.
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