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205 results

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Page 1
KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern.
Teumer A, Trenkwalder T, Kessler T, Jamshidi Y, van den Berg ME, Kaess B, Nelson CP, Bastiaenen R, De Bortoli M, Rossini A, Deisenhofer I, Stark K, Assa S, Braund PS, Cabrera C, Dominiczak AF, Gögele M, Hall LM, Ikram MA, Kavousi M, Lackner KJ; Lifelines Cohort Study; Müller C, Münzel T, Nauck M, Padmanabhan S, Pfeiffer N, Spector TD, Uitterlinden AG, Verweij N, Völker U, Warren HR, Zafar M, Felix SB, Kors JA, Snieder H, Munroe PB, Pattaro C, Fuchsberger C, Schmidt G, Nolte IM, Schunkert H, Pramstaller PP, Wild PS, van der Harst P, Stricker BH, Schnabel RB, Samani NJ, Hengstenberg C, Dörr M, Behr ER, Reinhard W. Teumer A, et al. Among authors: de bortoli m. JCI Insight. 2019 Dec 5;4(23):e131156. doi: 10.1172/jci.insight.131156. JCI Insight. 2019. PMID: 31600170 Free PMC article.
Generation and characterization of three human induced pluripotent stem cell lines (EURACi007-A, EURACi008-A, EURACi009-A) from three different individuals of the same family with arrhythmogenic cardiomyopathy (ACM) carrying the plakophillin2 p.N346Lfs*12 mutation.
Meraviglia V, Cattelan G, De Bortoli M, Motta BM, Volpato C, Frommelt LS, Rauhe W, Di Segni M, Silipigni R, Pramstaller PP, Rossini A. Meraviglia V, et al. Among authors: de bortoli m. Stem Cell Res. 2021 Aug;55:102466. doi: 10.1016/j.scr.2021.102466. Epub 2021 Jul 15. Stem Cell Res. 2021. PMID: 34298432 Free article.
Genetic and Metabolic Determinants of Atrial Fibrillation in a General Population Sample: The CHRIS Study.
Emmert DB, Vukovic V, Dordevic N, Weichenberger CX, Losi C, D'Elia Y, Volpato C, Hernandes VV, Gögele M, Foco L, Pontali G, Mascalzoni D, Domingues FS, Paulmichl R, Pramstaller PP, Pattaro C, Rossini A, Rainer J, Fuchsberger C, De Bortoli M. Emmert DB, et al. Among authors: de bortoli m. Biomolecules. 2021 Nov 9;11(11):1663. doi: 10.3390/biom11111663. Biomolecules. 2021. PMID: 34827661 Free PMC article.
GCN5 contributes to intracellular lipid accumulation in human primary cardiac stromal cells from patients affected by Arrhythmogenic cardiomyopathy.
Volani C, Pagliaro A, Rainer J, Paglia G, Porro B, Stadiotti I, Foco L, Cogliati E, Paolin A, Lagrasta C, Frati C, Corradini E, Falco A, Matzinger T, Picard A, Ermon B, Piazza S, De Bortoli M, Tondo C, Philippe R, Medici A, Lavdas AA, Blumer MJF, Pompilio G, Sommariva E, Pramstaller PP, Troppmair J, Meraviglia V, Rossini A. Volani C, et al. Among authors: de bortoli m. J Cell Mol Med. 2022 Jul;26(13):3687-3701. doi: 10.1111/jcmm.17396. Epub 2022 Jun 16. J Cell Mol Med. 2022. PMID: 35712781 Free PMC 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. 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.
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: de bortoli m. 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.
Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy.
Li Mura IE, Bauce B, Nava A, Fanciulli M, Vazza G, Mazzotti E, Rigato I, De Bortoli M, Beffagna G, Lorenzon A, Calore M, Dazzo E, Nobile C, Mostacciuolo ML, Corrado D, Basso C, Daliento L, Thiene G, Rampazzo A. Li Mura IE, et al. Among authors: de bortoli m. Eur J Hum Genet. 2013 Nov;21(11):1226-31. doi: 10.1038/ejhg.2013.39. Epub 2013 Mar 13. Eur J Hum Genet. 2013. PMID: 23486541 Free PMC article.
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic Cardiomyopathy.
De Bortoli M, Postma AV, Poloni G, Calore M, Minervini G, Mazzotti E, Rigato I, Ebert M, Lorenzon A, Vazza G, Cipriani A, Bariani R, Perazzolo Marra M, Husser D, Thiene G, Daliento L, Corrado D, Basso C, Tosatto SCE, Bauce B, van Tintelen JP, Rampazzo A. De Bortoli M, et al. Circ Genom Precis Med. 2018 Oct;11(10):e002123. doi: 10.1161/CIRCGEN.118.002123. Circ Genom Precis Med. 2018. PMID: 30354300
205 results