A5067449628- Muscle Physiology and Disorders
- Pluripotent Stem Cells Research
- CRISPR and Genetic Engineering
- Cardiac Fibrosis and Remodeling
- 3D Printing in Biomedical Research
- GDF15 and Related Biomarkers
- Tissue Engineering and Regenerative Medicine
- RNA Interference and Gene Delivery
- Metal complexes synthesis and properties
- Bone and Joint Diseases
- Adipose Tissue and Metabolism
- Genetic Neurodegenerative Diseases
- Cannabis and Cannabinoid Research
- Ferrocene Chemistry and Applications
- Neurogenetic and Muscular Disorders Research
- Drug Transport and Resistance Mechanisms
- Viral Infections and Immunology Research
- Diet, Metabolism, and Disease
- Cardiomyopathy and Myosin Studies
- Synthesis and biological activity
- Hematological disorders and diagnostics
- Trace Elements in Health
- Neurotransmitter Receptor Influence on Behavior
- HIV-related health complications and treatments
- Congenital limb and hand anomalies
Centro Cardiologico Monzino
2017-2023
Istituti di Ricovero e Cura a Carattere Scientifico
2018
University of Milan
2017
Fondazione G.B. Bietti
2017
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...
Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder characterized by growth retardation, skeletal anomalies and intellectual disability, caused heterozygous mutations in either CREBBP (RSTS1) or EP300 (RSTS2) genes. We 3 iPSC lines generated Sendai from blood of RSTS1 patients with unique non sense c.4435G > T, p.(Gly1479*), c.3474G A, p.(Trp1158*) missense c.4627G p.(Asp1543Tyr) mutations. All displayed morphology, pluripotency markers, trilineage differentiation potential,...
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...
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...
Duchenne muscular dystrophy (DMD) is an X-linked syndrome that affects skeletal and cardiac muscle caused by mutation of the dystrophin gene. Induced pluripotent stem cells (iPSCs) were generated from dermal fibroblasts electroporation with episomal vectors containing reprogramming factors (OCT4, SOX2, LIN28, KLF4, l-MYC). The donor carried out-of-frame deletion exons 45-50 established iPSC line exhibited normal morphology, expressed pluripotency markers, had karyotype possessed trilineage...
Background: Lamin A/C is involved in many cellular functions due to its ability bind chromatin transcription factors and affect their properties.Mutations of LMNA gene encoding lamin differentiation capacity stem cells.However, signaling pathways interaction with lamins remain unclear.Notch pathway are major differentiationresponsible pathway.Mandibuloacral dysplasia associated R527C mutation causes bone disease.In this study we investigated the role modulating Notch activity osteogenic...