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Preparedness of the CTSA's structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS).
CTSA Principal Investigators; Shamoon H, Center D, Davis P, Tuchman M, Ginsberg H, Califf R, Stephens D, Mellman T, Verbalis J, Nadler L, Shekhar A, Ford D, Rizza R, Shaker R, Brady K, Murphy B, Cronstein B, Hochman J, Greenland P, Orwoll E, Sinoway L, Greenberg H, Jackson R, Coller B, Topol E, Guay-Woodford L, Runge M, Clark R, McClain D, Selker H, Lowery C, Dubinett S, Berglund L, Cooper D, Firestein G, Johnston SC, Solway J, Heubi J, Sokol R, Nelson D, Tobacman L, Rosenthal G, Aaronson L, Barohn R, Kern P, Sullivan J, Shanley T, Blazar B, Larson R, FitzGerald G, Reis S, Pearson T, Buchanan T, McPherson D, Brasier A, Toto R, Disis M, Drezner M, Bernard G, Clore J, Evanoff B, Imperato-McGinley J, Sherwin R, Pulley J. CTSA Principal Investigators, et al. Among authors: sullivan j. Clin Transl Sci. 2012 Apr;5(2):121-9. doi: 10.1111/j.1752-8062.2012.00401.x. Epub 2012 Mar 27. Clin Transl Sci. 2012. PMID: 22507116 Free PMC article.
MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.
Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, Kerkhof J, McConkey H, Shvedunova M, Petersen AK, Magnussen K, Zweier C, Vasileiou G, Reis A, Savatt JM, Mulligan MR, Bicknell LS, Poke G, Abu-El-Haija A, Duis J, Hannig V, Srivastava S, Barkoudah E, Hauser NS, van den Born M, Hamiel U, Henig N, Baris Feldman H, McKee S, Krapels IPC, Lei Y, Todorova A, Yordanova R, Atemin S, Rogac M, McConnell V, Chassevent A, Barañano KW, Shashi V, Sullivan JA, Peron A, Iascone M, Canevini MP, Friedman J, Reyes IA, Kierstein J, Shen JJ, Ahmed FN, Mao X, Almoguera B, Blanco-Kelly F, Platzer K, Treu AB, Quilichini J, Bourgois A, Chatron N, Januel L, Rougeot C, Carere DA, Monaghan KG, Rousseau J, Myers KA, Sadikovic B, Akhtar A, Campeau PM. Karayol R, et al. Among authors: sullivan ja. Am J Hum Genet. 2024 May 28:S0002-9297(24)00164-2. doi: 10.1016/j.ajhg.2024.05.001. Online ahead of print. Am J Hum Genet. 2024. PMID: 38815585
Application of Physiologically Based Pharmacokinetic Modeling to Characterize the Effects of Age and Obesity on the Disposition of Levetiracetam in the Pediatric Population.
Maglalang PD, Sinha J, Zimmerman K, McCann S, Edginton A, Hornik CP, Hornik CD, Muller WJ, Al-Uzri A, Meyer M, Chen JY, Anand R, Perrin EM, Gonzalez D; Best Pharmaceuticals for Children Act–Pediatric Trials Network Steering Committee. Maglalang PD, et al. Clin Pharmacokinet. 2024 May 30. doi: 10.1007/s40262-024-01367-2. Online ahead of print. Clin Pharmacokinet. 2024. PMID: 38814425
The COPD Foundation on Its Twentieth Anniversary.
Malanga E, Thomashow B, Wright J, Walsh L, Carlomagno CG, Sullivan J, Williams S, Miller BE, Rothhaar C, Clark W, Hamilton A, Hess M, Prieto Oliver D, Malanga V, Amari P, Crapo J, Mannino DM. Malanga E, et al. Among authors: sullivan j. Chronic Obstr Pulm Dis. 2024 May 29;11(3):247-260. doi: 10.15326/jcopdf.2024.0527. Chronic Obstr Pulm Dis. 2024. PMID: 38809791 No abstract available.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, Searson PC, Sumner CJ. Sullivan JM, et al. Sci Transl Med. 2024 May 22;16(748):eadk1358. doi: 10.1126/scitranslmed.adk1358. Epub 2024 May 22. Sci Transl Med. 2024. PMID: 38776392
Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.
Kohler JN, Legro NR, Baldridge D, Shin J, Bowman A, Ugur B, Jackstadt MM, Shriver LP, Patti GJ, Zhang B, Feng W, McAdow AR, Goddard P, Ungar RA, Jensen T, Smith KS, Fresard L, Alvarez R, Bonner D, Reuter CM, McCormack C, Kravets E, Marwaha S, Holt JM; Undiagnosed Diseases Network; Worthey E, Ashley EA, Montgomery SB, Fisher P, Postlethwait J, De Camilli P, Solnica-Krezel L, Bernstein JA, Wheeler MT. Kohler JN, et al. Genet Med. 2024 May 16:101166. doi: 10.1016/j.gim.2024.101166. Online ahead of print. Genet Med. 2024. PMID: 38767059
Clinical Outcomes After Acute Coronary Syndromes or Revascularization Among People Living With HIV: A Systematic Review and Meta-Analysis.
Haji M, Capilupi M, Kwok M, Ibrahim N, Bloomfield GS, Longenecker CT, Rodriguez-Barradas MC, Ashong CN, Jutkowitz E, Taveira TH, Richard M, Sullivan JL, Rudolph JL, Wu WC, Erqou S. Haji M, et al. Among authors: sullivan jl. JAMA Netw Open. 2024 May 1;7(5):e2411159. doi: 10.1001/jamanetworkopen.2024.11159. JAMA Netw Open. 2024. PMID: 38743421 Free PMC article.
4,569 results