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The sixth international RASopathies symposium: Precision medicine-From promise to practice.
Gripp KW, Schill L, Schoyer L, Stronach B, Bennett AM, Blaser S, Brown A, Burdine R, Burkitt-Wright E, Castel P, Darilek S, Dias A, Dyer T, Ellis M, Erickson G, Gelb BD, Green T, Gross A, Ho A, Holder JL Jr, Inoue SI, Jelin AC, Kennedy A, Klein R, Kontaridis MI, Magoulas P, McConnell DB, McCormick F, Neel BG, Prada CE, Rauen KA, Roberts A, Rodriguez-Viciana P, Rosen N, Rumbaugh G, Sablina A, Solman M, Tartaglia M, Thomas A, Timmer WC, Venkatachalam K, Walsh KS, Wolters PL, Yi JS, Zenker M, Ratner N. Gripp KW, et al. Among authors: burdine r. Am J Med Genet A. 2020 Mar;182(3):597-606. doi: 10.1002/ajmg.a.61434. Epub 2019 Dec 11. Am J Med Genet A. 2020. PMID: 31825160 Free PMC article.
RASopathies: unraveling mechanisms with animal models.
Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. Jindal GA, et al. Dis Model Mech. 2015 Aug 1;8(8):769-82. doi: 10.1242/dmm.020339. Dis Model Mech. 2015. PMID: 26203125 Free PMC article. Review.
RASopathies: unraveling mechanisms with animal models.
Jindal GA, Goyal Y, Burdine RD, Rauen KA, Shvartsman SY. Jindal GA, et al. Dis Model Mech. 2015 Sep;8(9):1167. doi: 10.1242/dmm.022442. Dis Model Mech. 2015. PMID: 26398161 Free PMC article. No abstract available.
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish.
Patterson V, Ullah F, Bryant L, Griffin JN, Sidhu A, Saliganan S, Blaile M, Saenz MS, Smith R, Ellingwood S, Grange DK, Hu X, Mireguli M, Luo Y, Shen Y, Mulhern M, Zackai E, Ritter A, Izumi K, Hoefele J, Wagner M, Riedhammer KM, Seitz B, Robin NH, Goodloe D, Mignot C, Keren B, Cox H, Jarvis J, Hempel M, Gibson CF, Tran Mau-Them F, Vitobello A, Bruel AL, Sorlin A, Mehta S, Raymond FL, Gilmore K, Powell BC, Weck K, Li C, Vulto-van Silfhout AT, Giacomini T, Mancardi MM, Accogli A, Salpietro V, Zara F, Vora NL, Davis EE, Burdine R, Bhoj E. Patterson V, et al. Among authors: burdine r. Sci Adv. 2023 Apr 28;9(17):eade0631. doi: 10.1126/sciadv.ade0631. Epub 2023 Apr 26. Sci Adv. 2023. PMID: 37126546 Free PMC article.
DYX1C1 is required for axonemal dynein assembly and ciliary motility.
Tarkar A, Loges NT, Slagle CE, Francis R, Dougherty GW, Tamayo JV, Shook B, Cantino M, Schwartz D, Jahnke C, Olbrich H, Werner C, Raidt J, Pennekamp P, Abouhamed M, Hjeij R, Köhler G, Griese M, Li Y, Lemke K, Klena N, Liu X, Gabriel G, Tobita K, Jaspers M, Morgan LC, Shapiro AJ, Letteboer SJ, Mans DA, Carson JL, Leigh MW, Wolf WE, Chen S, Lucas JS, Onoufriadis A, Plagnol V, Schmidts M, Boldt K; UK10K; Roepman R, Zariwala MA, Lo CW, Mitchison HM, Knowles MR, Burdine RD, Loturco JJ, Omran H. Tarkar A, et al. Among authors: burdine rd. Nat Genet. 2013 Sep;45(9):995-1003. doi: 10.1038/ng.2707. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872636 Free PMC article.
How activating mutations affect MEK1 regulation and function.
Jindal GA, Goyal Y, Humphreys JM, Yeung E, Tian K, Patterson VL, He H, Burdine RD, Goldsmith EJ, Shvartsman SY. Jindal GA, et al. J Biol Chem. 2017 Nov 17;292(46):18814-18820. doi: 10.1074/jbc.C117.806067. Epub 2017 Oct 10. J Biol Chem. 2017. PMID: 29018093 Free PMC article.
Optimizing photoswitchable MEK.
Patel AL, Yeung E, McGuire SE, Wu AY, Toettcher JE, Burdine RD, Shvartsman SY. Patel AL, et al. Proc Natl Acad Sci U S A. 2019 Dec 17;116(51):25756-25763. doi: 10.1073/pnas.1912320116. Epub 2019 Dec 3. Proc Natl Acad Sci U S A. 2019. PMID: 31796593 Free PMC article.
71 results