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Page 1
Impaired protein hydroxylase activity causes replication stress and developmental abnormalities in humans.
Fletcher SC, Hall C, Kennedy TJ, Pajusalu S, Wojcik MH, Boora U, Li C, Oja KT, Hendrix E, Westrip CA, Andrijes R, Piasecka SK, Singh M, El-Asrag ME, Ptasinska A, Tillmann V, Higgs MR, Carere DA, Beggs AD, Pappas J, Rabin R, Smerdon SJ, Stewart GS, Õunap K, Coleman ML. Fletcher SC, et al. Among authors: pappas j. J Clin Invest. 2023 Apr 3;133(7):e152784. doi: 10.1172/JCI152784. J Clin Invest. 2023. PMID: 36795492 Free PMC article.
Quantitative Systems Pharmacology Modeling of Acid Sphingomyelinase Deficiency and the Enzyme Replacement Therapy Olipudase Alfa Is an Innovative Tool for Linking Pathophysiology and Pharmacology.
Kaddi CD, Niesner B, Baek R, Jasper P, Pappas J, Tolsma J, Li J, van Rijn Z, Tao M, Ortemann-Renon C, Easton R, Tan S, Puga AC, Schuchman EH, Barrett JS, Azer K. Kaddi CD, et al. Among authors: pappas j. CPT Pharmacometrics Syst Pharmacol. 2018 Jul;7(7):442-452. doi: 10.1002/psp4.12304. Epub 2018 Jun 19. CPT Pharmacometrics Syst Pharmacol. 2018. PMID: 29920993 Free PMC article.
Advisory Group recommendations on priorities for the IARC Monographs.
Berrington de González A, Masten SA, Bhatti P, Fortner RT, Peters S, Santonen T, Yakubovskaya MG, Barouki R, Barros SBM, Barupal D, Beane Freeman LE, Calaf GM, Dillner J, El Rhazi K, Fritschi L, Fukushima S, Godderis L, Kogevinas M, Lachenmeier DW, Mandrioli D, Muchengeti MM, Niemeier RT, Pappas JJ, Pi J, Purdue MP, Riboli E, Rodríguez T, Schlünssen V, Benbrahim-Tallaa L, de Conti A, Facchin C, Pasqual E, Wedekind R, Ahmadi A, Chittiboyina S, Herceg Z, Kulasingam S, Lauby-Secretan B, MacLehose R, Sanaa M, Schüz J, Suonio E, Zavadil J, Mattock H, Madia F, Schubauer-Berigan MK. Berrington de González A, et al. Among authors: pappas jj. Lancet Oncol. 2024 May;25(5):546-548. doi: 10.1016/S1470-2045(24)00208-0. Epub 2024 Apr 12. Lancet Oncol. 2024. PMID: 38621402 No abstract available.
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Küry S, Stanton JE, van Woerden G, Hsieh TC, Rosenfelt C, Scott-Boyer MP, Most V, Wang T, Papendorf JJ, de Konink C, Deb W, Vignard V, Studencka-Turski M, Besnard T, Hajdukowicz AM, Thiel F, Möller S, Florenceau L, Cuinat S, Marsac S, Wentzensen I, Tuttle A, Forster C, Striesow J, Golnik R, Ortiz D, Jenkins L, Rosenfeld JA, Ziegler A, Houdayer C, Bonneau D, Torti E, Begtrup A, Monaghan KG, Mullegama SV, Volker-Touw CMLN, van Gassen KLI, Oegema R, de Pagter M, Steindl K, Rauch A, Ivanovski I, McDonald K, Boothe E, Dauber A, Baker J, Fabie NAV, Bernier RA, Turner TN, Srivastava S, Dies KA, Swanson L, Costin C, Jobling RK, Pappas J, Rabin R, Niyazov D, Tsai AC, Kovak K, Beck DB, Malicdan M, Adams DR, Wolfe L, Ganetzky RD, Muraresku C, Babikyan D, Sedláček Z, Hančárová M, Timberlake AT, Al Saif H, Nestler B, King K, Hajianpour MJ, Costain G, Prendergast D, Li C, Geneviève D, Vitobello A, Sorlin A, Philippe C, Harel T, Toker O, Sabir A, Lim D, Hamilton M, Bryson L, Cleary E, Weber S, Hoffman TL, Cueto-González AM, Tizzano EF, Gómez-Andrés D, Codina-Solà M, Ververi A, Pavlidou E, Lambropoulos A, Garganis K, Rio M, Levy J, Jurgensmeyer S, McRae AM, Lessard MK, D'Agostino MD, De Bi… See abstract for full author list ➔ Küry S, et al. Among authors: pappas j. medRxiv [Preprint]. 2024 Jan 26:2024.01.13.24301174. doi: 10.1101/2024.01.13.24301174. medRxiv. 2024. PMID: 38293138 Free PMC article. Preprint.
Relapsing White Matter Disease and Subclinical Optic Neuropathy: From the National Multiple Sclerosis Society Case Conference Proceedings.
O'Neill KA, Dugue A, Abreu NJ, Balcer LJ, Branche M, Galetta S, Graves J, Kister I, Magro C, Miller C, Newsome SD, Pappas J, Rucker J, Steigerwald C, William CM, Zamvil SS, Grossman SN, Krupp LB. O'Neill KA, et al. Among authors: pappas j. Neurol Neuroimmunol Neuroinflamm. 2024 Mar;11(2):e200194. doi: 10.1212/NXI.0000000000200194. Epub 2024 Jan 5. Neurol Neuroimmunol Neuroinflamm. 2024. PMID: 38181317 Free PMC article.
Decreasing ICU and Hospital Length of Stay through a Standardized Respiratory Therapist-driven Electronic Clinical Care Pathway for Status Asthmaticus.
Lopez M, Wilson M, Cobbina E, Kaufman D, Fluitt J, Grainger M, Ruiz R, Abudukadier G, Tiras M, Carlson B, Spaid J, Falsone K, Cocjin I, Moretti A, Vercio C, Tinsley C, Chandnani HK, Samayoa C, Cianci C, Pappas J, Chang NY. Lopez M, et al. Among authors: pappas j. Pediatr Qual Saf. 2023 Dec 5;8(6):e697. doi: 10.1097/pq9.0000000000000697. eCollection 2023 Nov-Dec. Pediatr Qual Saf. 2023. PMID: 38058471 Free PMC article.
Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.
Parra A, Rabin R, Pappas J, Pascual P, Cazalla M, Arias P, Gallego-Zazo N, Santana A, Arroyo I, Artigas M, Pachajoa H, Alanay Y, Akgun-Dogan O, Ruaud L, Couque N, Levy J, Porras-Hurtado GL, Santos-Simarro F, Ballesta-Martinez MJ, Guillén-Navarro E, Muñoz-Hernández H, Nevado J, Spanish OverGrowth Registry Initiative, Tenorio-Castano J, Lapunzina P. Parra A, et al. Among authors: pappas j. Genes (Basel). 2023 May 29;14(6):1179. doi: 10.3390/genes14061179. Genes (Basel). 2023. PMID: 37372360 Free PMC article. Review.
Environmental Concentrations of the Type 2 Diabetes Medication Metformin and Its Transformation Product Guanylurea in Surface Water and Sediment in Ontario and Quebec, Canada.
Littlejohn C, Renaud JB, Sabourin L, Lapen DR, Pappas JJ, Tuteja B, Hughes D, Ussery E, Yeung KK, Sumarah MW. Littlejohn C, et al. Among authors: pappas jj. Environ Toxicol Chem. 2023 Aug;42(8):1709-1720. doi: 10.1002/etc.5684. Epub 2023 Jul 19. Environ Toxicol Chem. 2023. PMID: 37283207
253 results