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Generation of human induced pluripotent stem cell line EURACi015-A from a patient affected by dilated cardiomyopathy carrying the Lamin A/C p.Glu161Lys mutation.
Cattelan G, Sophie Frommelt L, Volani C, Colliva A, Ciucci G, Paldino A, Dal Ferro M, Di Segni M, Silipigni R, Pramstaller PP, De Bortoli M, Zacchigna S, Rossini A. Cattelan G, et al. Among authors: pramstaller pp. Stem Cell Res. 2023 Sep;71:103172. doi: 10.1016/j.scr.2023.103172. Epub 2023 Jul 28. Stem Cell Res. 2023. PMID: 37535990 Free article.
Modeling incomplete penetrance in arrhythmogenic cardiomyopathy by human induced pluripotent stem cell derived cardiomyocytes.
De Bortoli M, Meraviglia V, Mackova K, Frommelt LS, König E, Rainer J, Volani C, Benzoni P, Schlittler M, Cattelan G, Motta BM, Volpato C, Rauhe W, Barbuti A, Zacchigna S, Pramstaller PP, Rossini A. De Bortoli M, et al. Among authors: pramstaller pp. Comput Struct Biotechnol J. 2023 Feb 17;21:1759-1773. doi: 10.1016/j.csbj.2023.02.029. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36915380 Free PMC article.
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 Jun 15;196:106506. doi: 10.1016/j.nbd.2024.106506. Epub 2024 Apr 21. Neurobiol Dis. 2024. PMID: 38648865 Free article.
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE, Kahali B, Berndt SI, Justice AE, Pers TH, Day FR, Powell C, Vedantam S, Buchkovich ML, Yang J, Croteau-Chonka DC, Esko T, Fall T, Ferreira T, Gustafsson S, Kutalik Z, Luan J, Mägi R, Randall JC, Winkler TW, Wood AR, Workalemahu T, Faul JD, Smith JA, Zhao JH, Zhao W, Chen J, Fehrmann R, Hedman ÅK, Karjalainen J, Schmidt EM, Absher D, Amin N, Anderson D, Beekman M, Bolton JL, Bragg-Gresham JL, Buyske S, Demirkan A, Deng G, Ehret GB, Feenstra B, Feitosa MF, Fischer K, Goel A, Gong J, Jackson AU, Kanoni S, Kleber ME, Kristiansson K, Lim U, Lotay V, Mangino M, Leach IM, Medina-Gomez C, Medland SE, Nalls MA, Palmer CD, Pasko D, Pechlivanis S, Peters MJ, Prokopenko I, Shungin D, Stančáková A, Strawbridge RJ, Sung YJ, Tanaka T, Teumer A, Trompet S, van der Laan SW, van Setten J, Van Vliet-Ostaptchouk JV, Wang Z, Yengo L, Zhang W, Isaacs A, Albrecht E, Ärnlöv J, Arscott GM, Attwood AP, Bandinelli S, Barrett A, Bas IN, Bellis C, Bennett AJ, Berne C, Blagieva R, Blüher M, Böhringer S, Bonnycastle LL, Böttcher Y, Boyd HA, Bruinenberg M, Caspersen IH, Chen YI, Clarke R, Daw EW, de Craen AJM, Delgado G, Dimitriou M, Doney ASF, Eklund N, Estrada K, Eury E, Folkersen L, Fraser RM, Garci… See abstract for full author list ➔ Locke AE, et al. Among authors: pramstaller pp. Nature. 2015 Feb 12;518(7538):197-206. doi: 10.1038/nature14177. Nature. 2015. PMID: 25673413 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 Free PMC 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.
Multi-trait analysis characterizes the genetics of thyroid function and identifies causal associations with clinical implications.
Sterenborg RBTM, Steinbrenner I, Li Y, Bujnis MN, Naito T, Marouli E, Galesloot TE, Babajide O, Andreasen L, Astrup A, Åsvold BO, Bandinelli S, Beekman M, Beilby JP, Bork-Jensen J, Boutin T, Brody JA, Brown SJ, Brumpton B, Campbell PJ, Cappola AR, Ceresini G, Chaker L, Chasman DI, Concas MP, Coutinho de Almeida R, Cross SM, Cucca F, Deary IJ, Kjaergaard AD, Echouffo Tcheugui JB, Ellervik C, Eriksson JG, Ferrucci L, Freudenberg J; GHS DiscovEHR; Regeneron Genetics Center; Fuchsberger C, Gieger C, Giulianini F, Gögele M, Graham SE, Grarup N, Gunjača I, Hansen T, Harding BN, Harris SE, Haunsø S, Hayward C, Hui J, Ittermann T, Jukema JW, Kajantie E, Kanters JK, Kårhus LL, Kiemeney LALM, Kloppenburg M, Kühnel B, Lahti J, Langenberg C, Lapauw B, Leese G, Li S, Liewald DCM, Linneberg A, Lominchar JVT, Luan J, Martin NG, Matana A, Meima ME, Meitinger T, Meulenbelt I, Mitchell BD, Møllehave LT, Mora S, Naitza S, Nauck M, Netea-Maier RT, Noordam R, Nursyifa C, Okada Y, Onano S, Papadopoulou A, Palmer CNA, Pattaro C, Pedersen O, Peters A, Pietzner M, Polašek O, Pramstaller PP, Psaty BM, Punda A, Ray D, Redmond P, Richards JB, Ridker PM, Russ TC, Ryan KA, Olesen MS, Schultheiss UT, Sel… See abstract for full author list ➔ Sterenborg RBTM, et al. Among authors: pramstaller pp. Nat Commun. 2024 Jan 30;15(1):888. doi: 10.1038/s41467-024-44701-9. Nat Commun. 2024. PMID: 38291025 Free PMC article.
Nuclear and mitochondrial genetic variants associated with mitochondrial DNA copy number.
Koller A, Filosi M, Weissensteiner H, Fazzini F, Gorski M, Pattaro C, Schönherr S, Forer L, Herold JM, Stark KJ, Döttelmayer P, Hicks AA, Pramstaller PP, Würzner R, Eckardt KU, Heid IM, Fuchsberger C, Lamina C, Kronenberg F. Koller A, et al. Among authors: pramstaller pp. Sci Rep. 2024 Jan 24;14(1):2083. doi: 10.1038/s41598-024-52373-0. Sci Rep. 2024. PMID: 38267512 Free PMC article.
382 results