A5018806872- Pluripotent Stem Cells Research
- Muscle Physiology and Disorders
- CRISPR and Genetic Engineering
- Cardiomyopathy and Myosin Studies
- Cardiovascular Effects of Exercise
- Child Nutrition and Feeding Issues
- Immunodeficiency and Autoimmune Disorders
- Mycobacterium research and diagnosis
- Neonatal Respiratory Health Research
- Cystic Fibrosis Research Advances
- Bacterial Infections and Vaccines
- RNA Interference and Gene Delivery
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2017-2024
Ospedale Maggiore
2023-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2024
University of Milan
2023
The continuous emergence of SARS-CoV-2 variants and subvariants poses significant public health challenges. latest designated subvariant JN.1, with all its descendants, shows more than 30 mutations in the spike gene. JN.1 has raised concerns due to genomic diversity potential enhance transmissibility immune evasion. This study aims analyse molecular characteristics JN.1-related lineages (JN.1*) identified Italy from October 2023 April 2024 evaluate neutralization activity against a subsample...
Duchenne muscular dystrophy (DMD) is caused by abnormalities in the dystrophin gene and clinically characterised childhood muscle degeneration cardiomyopathy. We produced an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts electroporation with episomal vectors containing: hL-MYC, hLIN28, hSOX2, hKLF4, hOCT3/4. The resultant iPSC (CCMi001DMD-A-3) displayed morphology, expressed pluripotency markers, possessed trilineage differentiation potential was karyotypically...
Becker muscular dystrophy (BMD) is a dystrophinopathy caused by mutations in the dystrophin gene on chromosome Xp21. BMD result truncated semi-functional isoforms. Consequently, less severe clinical symptoms become apparent later life compared to Duchenne dystrophy. Dermal fibroblasts from patient were electroporated with episomal plasmids containing reprogramming factors create induced pluripotent stem cell line: CCMi002BMD-A-9 that showed markers, karyotypically normal and capable of...
Duchenne's muscular dystrophy (DMD) is a neuromuscular disorder affecting skeletal and cardiac muscle function, caused by mutations in the dystrophin gene. Dermal fibroblasts, isolated from DMD patient with reported deletion of exons 51 to 53 gene, were reprogramed into induced pluripotent stem cells (iPSCs) electroporation episomal vectors containing reprograming factors: OCT4, SOX2, LIN28, KLF4, L-MYC. The obtained iPSC line showed morphology, expression pluripotency markers, possessed...
Abstract Background Hypertrophic cardiomyopathy (HCM) is a genetic disorder, diagnosed according to the presence of phenotypical traits myocardium. A specific biomarker which can associate with severity HCM lacking. Extracellular Vesicles (EVs), nanoparticles released by cells into biological fluids, hold promise as accessible diagnostic tools, their abundance and molecular composition reflect cardiac diseases (Rizzuto 2024). We aim at characterising plasma-derived EVs isolated from 28...
Background: Hypertrophic cardiomyopathy (HCM) is diagnosed according to the presence of morphological and functional traits heart, often in genetic mutations. A specific biomarker assessing aetiopathology this condition lacking. Extracellular vesicles (EVs), small particles released by all cells into biological fluids, hold promise as diagnostic prognostic tools for cardiac diseases. We aim at characterising plasma-derived EVs isolated from 18 consecutive HCM patients 13 healthy volunteers...
Becker Muscular dystrophy (BMD) is an X-linked syndrome characterized by progressive muscle weakness. BMD generally less severe than Duchenne Dystrophy. caused mutations in the dystrophin gene that normally give rise to production of a truncated but partially functional protein. We generated induced pluripotent cell line from dermal fibroblasts patient carrying splice mutation (c.1705-8 T>C). The iPSC cell-line displayed characteristic pluripotent-like morphology, expressed pluripotency...
Abstract Objectives Cardiac genetic counselling and testing for inherited cardiomyopathies have become essential aspects of cardiovascular care. A diagnosis in a family can offer an invaluable tool cascade at–risk relatives. careful clinical individualized approach to is now needed guarantee the best care possible. We report results our first–year single–centre experience. Methods From September 2021, 69 tests been carried out at Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico Milan...