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Induced Pluripotent Stem Cell (iPSC) Lines from a Family with Resistant Epileptic Encephalopathy Caused by Compound Heterozygous Mutations in SZT2 Gene.
Cattelani C, Battistella I, Di Leva F, Fioravanti G, Benedicenti F, Stanzial F, Schwienbacher C, Fanelli F, Pramstaller PP, Hicks AA, Conti L, Corti C. Cattelani C, et al. Among authors: pramstaller pp. Int J Mol Sci. 2022 Oct 28;23(21):13095. doi: 10.3390/ijms232113095. Int J Mol Sci. 2022. PMID: 36361881 Free PMC article.
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity.
Bakker MK, Kanning JP, Abraham G, Martinsen AE, Winsvold BS, Zwart JA, Bourcier R, Sawada T, Koido M, Kamatani Y, Morel S, Amouyel P, Debette S, Bijlenga P, Berrandou T, Ganesh SK, Bouatia-Naji N, Jones G, Bown M, Rinkel GJE, Veldink JH, Ruigrok YM; HUNT All-In Stroke, CADISP group, International Consortium for Blood Pressure, International Headache Genetics Consortium, International Stroke Genetics Consortium (ISGC) Intracranial Aneurysm Working Group. Bakker MK, et al. Stroke. 2023 Mar;54(3):810-818. doi: 10.1161/STROKEAHA.122.040715. Epub 2023 Jan 19. Stroke. 2023. PMID: 36655558 Free PMC article.
Genome-wide association analysis identifies ancestry-specific genetic variation associated with acute response to metformin and glipizide in SUGAR-MGH.
Li JH, Brenner LN, Kaur V, Figueroa K, Schroeder P, Huerta-Chagoya A; MAGIC Investigators; Diabetes Prevention Program (DPP) Research Group; Udler MS, Leong A, Mercader JM, Florez JC. Li JH, et al. Diabetologia. 2023 Jul;66(7):1260-1272. doi: 10.1007/s00125-023-05922-7. Epub 2023 May 26. Diabetologia. 2023. PMID: 37233759 Free PMC article.
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
Aulchenko YS, Ripatti S, Lindqvist I, Boomsma D, Heid IM, Pramstaller PP, Penninx BW, Janssens AC, Wilson JF, Spector T, Martin NG, Pedersen NL, Kyvik KO, Kaprio J, Hofman A, Freimer NB, Jarvelin MR, Gyllensten U, Campbell H, Rudan I, Johansson A, Marroni F, Hayward C, Vitart V, Jonasson I, Pattaro C, Wright A, Hastie N, Pichler I, Hicks AA, Falchi M, Willemsen G, Hottenga JJ, de Geus EJ, Montgomery GW, Whitfield J, Magnusson P, Saharinen J, Perola M, Silander K, Isaacs A, Sijbrands EJ, Uitterlinden AG, Witteman JC, Oostra BA, Elliott P, Ruokonen A, Sabatti C, Gieger C, Meitinger T, Kronenberg F, Döring A, Wichmann HE, Smit JH, McCarthy MI, van Duijn CM, Peltonen L; ENGAGE Consortium. Aulchenko YS, et al. Among authors: pramstaller pp. Nat Genet. 2009 Jan;41(1):47-55. doi: 10.1038/ng.269. Epub 2008 Dec 7. Nat Genet. 2009. PMID: 19060911 Free PMC article.
Striatin knock out induces a gain of function of INa and impaired Ca2+ handling in mESC-derived cardiomyocytes.
Benzoni P, Arici M, Giannetti F, Cospito A, Prevostini R, Volani C, Fassina L, Rosato-Siri MD, Metallo A, Gennaccaro L, Suffredini S, Foco L, Mazzetti S, Calogero A, Cappelletti G, Leibbrandt A, Elling U, Broso F, Penninger JM, Pramstaller PP, Piubelli C, Bucchi A, Baruscotti M, Rossini A, Rocchetti M, Barbuti A. Benzoni P, et al. Among authors: pramstaller pp. Acta Physiol (Oxf). 2024 May 15:e14160. doi: 10.1111/apha.14160. Online ahead of print. Acta Physiol (Oxf). 2024. PMID: 38747650
Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.
Keaton JM, Kamali Z, Xie T, Vaez A, Williams A, Goleva SB, Ani A, Evangelou E, Hellwege JN, Yengo L, Young WJ, Traylor M, Giri A, Zheng Z, Zeng J, Chasman DI, Morris AP, Caulfield MJ, Hwang SJ, Kooner JS, Conen D, Attia JR, Morrison AC, Loos RJF, Kristiansson K, Schmidt R, Hicks AA, Pramstaller PP, Nelson CP, Samani NJ, Risch L, Gyllensten U, Melander O, Riese H, Wilson JF, Campbell H, Rich SS, Psaty BM, Lu Y, Rotter JI, Guo X, Rice KM, Vollenweider P, Sundström J, Langenberg C, Tobin MD, Giedraitis V, Luan J, Tuomilehto J, Kutalik Z, Ripatti S, Salomaa V, Girotto G, Trompet S, Jukema JW, van der Harst P, Ridker PM, Giulianini F, Vitart V, Goel A, Watkins H, Harris SE, Deary IJ, van der Most PJ, Oldehinkel AJ, Keavney BD, Hayward C, Campbell A, Boehnke M, Scott LJ, Boutin T, Mamasoula C, Järvelin MR, Peters A, Gieger C, Lakatta EG, Cucca F, Hui J, Knekt P, Enroth S, De Borst MH, Polašek O, Concas MP, Catamo E, Cocca M, Li-Gao R, Hofer E, Schmidt H, Spedicati B, Waldenberger M, Strachan DP, Laan M, Teumer A, Dörr M, Gudnason V, Cook JP, Ruggiero D, Kolcic I, Boerwinkle E, Traglia M, Lehtimäki T, Raitakari OT, Johnson AD, Newton-Cheh C, Brown MJ, Dominiczak AF, Sever PJ, Poul… See abstract for full author list ➔ Keaton JM, et al. Among authors: pramstaller pp. Nat Genet. 2024 May;56(5):778-791. doi: 10.1038/s41588-024-01714-w. Epub 2024 Apr 30. Nat Genet. 2024. PMID: 38689001
Dopamine‑iron homeostasis interaction rescues mitochondrial fitness in Parkinson's disease.
Buoso C, Seifert M, Lang M, Griffith CM, Talavera Andújar B, Castelo Rueda MP, Fischer C, Doerrier C, Talasz H, Zanon A, Pramstaller PP, Schymanski EL, Pichler I, Weiss G. Buoso C, et al. Among authors: pramstaller pp. Neurobiol Dis. 2024 Apr 21;196:106506. doi: 10.1016/j.nbd.2024.106506. Online ahead of print. Neurobiol Dis. 2024. PMID: 38648865 Free article.
Associations Between Dietary Patterns and Kidney Health Assessed in the Population-Based CHRIS Study Using Reduced Rank Regression.
Barbieri G, Garcia-Larsen V, Lundin R, Fujii R, Melotti R, Gögele M, Christopher KB, Cazzoletti L, Pramstaller PP, Zanolin ME, Pattaro C, Hantikainen E. Barbieri G, et al. Among authors: pramstaller pp. J Ren Nutr. 2024 Mar 21:S1051-2276(24)00051-7. doi: 10.1053/j.jrn.2024.03.003. Online ahead of print. J Ren Nutr. 2024. PMID: 38521380 Free article.
382 results