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Page 1
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
Li D, Wang Q, Bayat A, Battig MR, Zhou Y, Bosch DG, van Haaften G, Granger L, Petersen AK, Pérez-Jurado LA, Aznar-Laín G, Aneja A, Hancarova M, Bendova S, Schwarz M, Kremlikova Pourova R, Sedlacek Z, Keena BA, March ME, Hou C, O'Connor N, Bhoj EJ, Harr MH, Lemire G, Boycott KM, Towne M, Li M, Tarnopolsky M, Brady L, Parker MJ, Faghfoury H, Parsley LK, Agolini E, Dentici ML, Novelli A, Wright M, Palmquist R, Lai K, Scala M, Striano P, Iacomino M, Zara F, Cooper A, Maarup TJ, Byler M, Lebel RR, Balci TB, Louie R, Lyons M, Douglas J, Nowak C, Afenjar A, Hoyer J, Keren B, Maas SM, Motazacker MM, Martinez-Agosto JA, Rabani AM, McCormick EM, Falk MJ, Ruggiero SM, Helbig I, Møller RS, Tessarollo L, Tomassoni Ardori F, Palko ME, Hsieh TC, Krawitz PM, Ganapathi M, Gelb BD, Jobanputra V, Wilson A, Greally J, Jacquemont S, Jizi K, Bruel AL, Quelin C, Misra VK, Chick E, Romano C, Greco D, Arena A, Morleo M, Nigro V, Seyama R, Uchiyama Y, Matsumoto N, Taira R, Tashiro K, Sakai Y, Yigit G, Wollnik B, Wagner M, Kutsche B, Hurst AC, Thompson ML, Schmidt R, Randolph L, Spillmann RC, Shashi V, Higginbotham EJ, Cordeiro D, Carnevale A, Costain G, Khan T, Funalot B, Tran Mau-Them F, Fernandez … See abstract for full author list ➔ Li D, et al. Among authors: wang q. J Clin Invest. 2024 Jan 2;134(1):e171235. doi: 10.1172/JCI171235. J Clin Invest. 2024. PMID: 37962958 Free PMC article.
Priorities for research on neuromodulatory subcortical systems in Alzheimer's disease: Position paper from the NSS PIA of ISTAART.
Ehrenberg AJ, Kelberman MA, Liu KY, Dahl MJ, Weinshenker D, Falgàs N, Dutt S, Mather M, Ludwig M, Betts MJ, Winer JR, Teipel S, Weigand AJ, Eschenko O, Hämmerer D, Leiman M, Counts SE, Shine JM, Robertson IH, Levey AI, Lancini E, Son G, Schneider C, Egroo MV, Liguori C, Wang Q, Vazey EM, Rodriguez-Porcel F, Haag L, Bondi MW, Vanneste S, Freeze WM, Yi YJ, Maldinov M, Gatchel J, Satpati A, Babiloni C, Kremen WS, Howard R, Jacobs HIL, Grinberg LT. Ehrenberg AJ, et al. Among authors: wang q. Alzheimers Dement. 2023 May;19(5):2182-2196. doi: 10.1002/alz.12937. Epub 2023 Jan 15. Alzheimers Dement. 2023. PMID: 36642985 Free PMC article.
Rare and common genetic variants underlying the risk of Hirschsprung's disease.
Xiao J, Feng C, Zhu T, Zhang X, Chen X, Li Z, You J, Wang Q, Zhuansun D, Meng X, Wang J, Xiang L, Yu X, Zhou B, Tang W, Tou J, Wang Y, Yang H, Yu L, Liu Y, Jiang X, Ren H, Yu M, Chen Q, Yin Q, Liu X, Xu Z, Wu D, Yu D, Wu X, Yang J, Xiong B, Chen F, Hao X, Feng J. Xiao J, et al. Among authors: wang q. Hum Mol Genet. 2025 Jan 16:ddae205. doi: 10.1093/hmg/ddae205. Online ahead of print. Hum Mol Genet. 2025. PMID: 39817569
Inhalable Carbonyl Sulfide Donor-Hybridized Selective Phosphodiesterase 10A Inhibitor for Treating Idiopathic Pulmonary Fibrosis by Inhibiting Tumor Growth Factor-β Signaling and Activating the cAMP/Protein Kinase A/cAMP Response Element-Binding Protein (CREB)/p53 Axis.
Wang Q, Liu X, Yuan H, Zhang F, Wu J, Yang D, Qian J, Huang YY, Chai G, Luo HB, Guo L. Wang Q, et al. ACS Pharmacol Transl Sci. 2024 Dec 28;8(1):256-269. doi: 10.1021/acsptsci.4c00671. eCollection 2025 Jan 10. ACS Pharmacol Transl Sci. 2024. PMID: 39816787
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