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Stem Cell Research|April 26, 2025
Generation of iPSC lines (ICHi001-A, ICHi002-A, ICHi003-A, ICHi004-A) from four patients carrying Titin truncating variants associated with dilated cardiomyopathyCecilia Thairi, Rebecca Artioli, Marianna Paulis, et al.
International Journal of Molecular Sciences|June 10, 2023
Functional Characterisation of the Rare SCN5A p.E1225K Variant, Segregating in a Brugada Syndrome Familial Case, in Human Cardiomyocytes from Pluripotent Stem CellsNicolò Salvarani, Giovanni Peretto, Crasto Silvia, et al.
Iscience|March 7, 2023
Optical modulation of excitation-contraction coupling in human-induced pluripotent stem cell-derived cardiomyocytesVito Vurro, Beatrice Federici, Carlotta Ronchi, et al.
Stem Cell Research|July 14, 2020
Generation of two iPSC lines (FAMRCi007-A and FAMRCi007-B) from patient with Emery-Dreifuss muscular dystrophy and heart rhythm abnormalities carrying genetic variant LMNA p.Arg249GlnKseniya Perepelina, Aleksandra Kostina, Polina Klauzen, et al.
Cell Death & Disease|October 7, 2016
Adeno-associated virus-mediated CASQ2 delivery rescues phenotypic alterations in a patient-specific model of recessive catecholaminergic polymorphic ventricular tachycardiaFrancesco Lodola, Diego Morone, Marco Denegri, et al.
European Journal of Human Genetics : EJHG|March 7, 2013
Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathyRoberta Roncarati, Chiara Viviani Anselmi, Peter Krawitz, et al.
Iscience|October 21, 2020
Divergent Transcription of the Nkx2-5 Locus Generates Two Enhancer RNAs with Opposing FunctionsIrene Salamon, Simone Serio, Simona Bianco, et al.
The Journal of Clinical Endocrinology and Metabolism|February 9, 2006
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failureElisa Di Pasquale, Raffaella Rossetti, Anna Marozzi, et al.
American Journal of Physiology. Heart and Circulatory Physiology|March 20, 2016
Antiarrhythmic effect of growth factor-supplemented cardiac progenitor cells in chronic infarcted heartMonia Savi, Leonardo Bocchi, Stefano Rossi, et al.
Nature Communications|May 24, 2019
The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathyNicolò Salvarani, Silvia Crasto, Michele Miragoli, et al.
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