A5019513873- Cutaneous lymphoproliferative disorders research
- Infectious Diseases and Mycology
- CRISPR and Genetic Engineering
- Phytochemical compounds biological activities
- CAR-T cell therapy research
- Health Systems, Economic Evaluations, Quality of Life
- MicroRNA in disease regulation
- Cancer-related molecular mechanisms research
- Genomics and Rare Diseases
- Muscle Physiology and Disorders
- Circular RNAs in diseases
- Pharmaceutical Economics and Policy
- Genetic and rare skin diseases.
- Virus-based gene therapy research
- Neuroscience and Neuropharmacology Research
- Cancer and Skin Lesions
- T-cell and Retrovirus Studies
- Biomedical and Engineering Education
- Biosimilars and Bioanalytical Methods
- Hedgehog Signaling Pathway Studies
- Neurogenetic and Muscular Disorders Research
- Hemophilia Treatment and Research
- BRCA gene mutations in cancer
- Pharmacological Effects and Toxicity Studies
- Viral Infectious Diseases and Gene Expression in Insects
Istituto Superiore di Sanità
2012-2024
European Medicines Agency
2019-2024
Weatherford College
2023
Istituto Dermopatico dell'Immacolata
2009
Sapienza University of Rome
2007
European Molecular Biology Laboratory
2004
Max Planck Institute for Metabolism Research
1994
Abstract In this study, we used single nucleotide polymorphism and comparative genomic hybridization array to study DNA copy number changes loss of heterozygosity for 28 patients affected by Sézary syndrome (SS), a rare form cutaneous T-cell lymphoma (CTCL). Our data identified, further confirming previous studies, recurrent losses 17p13.2-p11.2 10p12.1-q26.3 occurring in 71% 68% cases, respectively; common gains were detected 17p11.2-q25.3 (64%) chromosome 8/8q (50%). Moreover, identified...
Liver cancers in children are rare representing only 1.1% of malignancies, with an annual incidence rate 1.5 cases per million. Hepatoblastoma and hepatocellular carcinomas the most common malignancies liver occurring young people aged 15 years or younger. Molecular basis both tumors still unclear, markers (i.e., CTNNB1, APC, IGF-2) not always useful characterization sporadic forms; this respect, microRNA recently associated carcinogenesis could play a pivotal role their onset. CTNNB1 APC...
Hailey-Hailey disease (HHD) is an autosomal dominant disorder characterized by suprabasal cutaneous cell separation (acantholysis) leading to the development of erosive and oozing skin lesion. Micro RNAs (miRNAs) are endogenous post-transcriptional modulators gene expression with critical functions in health disease. Here, we evaluated whether specific miRNAs may play a role pathogenesis HHD. report that expressed non-random manner patients. miR-125b appeared promising candidate for playing...
GPR37 is an orphan G protein-coupled receptor expressed in mammalian brain, and its insoluble aggregates are found the brain samples of juvenile Parkinson's disease patients. We have produced a Gpr37 knock-out mouse strain identified several phenotypic features that similar to those reported for mutants genes encoding components synaptic dopamine vesicles. Our results reveal unanticipated role regulating substantia nigra-striatum dopaminergic signaling. -/- mice viable, with normal...
Multiple osteochondroma (MO) is a rare skeletal disease characterized by the formation of multiple benign cartilage-capped bone tumors; in 1-5% patients, malignant transformation into peripheral chondrosarcoma may occur. This disorder large spectrum germline mutations scattered along EXT1/EXT2 genes, presence significant percentage patients without alterations EXT and phenotypic variability. The molecular basis MO genetic clinical heterogeneity, including causes underlying transformation,...
The rolA gene encoded on the Ri plasmid A4 of Agrobacterium rhizogenes is one transferred (TL-DNA) genes involved in pathogenesis hairy-root disease plants. function 100-amino acid protein product unknown, although its expression causes physiological and developmental alterations transgenic A. contains an intron untranslated leader region that has features typical plant pre-messenger RNA introns. Transcription splicing occur cell.
Hailey-Hailey disease (HHD) is an autosomal dominant disorder characterized by suprabasal cutaneous cell separation (acantholysis) leading to the development of erosive and oozing skin lesions. While a strong relationship exists between mutations in gene that encodes Ca(2+)/Mn(2+)-adenosine triphosphatase ATP2C1 HHD, we still have little understanding how these affect manifestations disease.This study was designed determine early signalling events epithelial growth differentiation during HHD...
The absence of the cytoskeletal protein dystrophin results in Duchenne muscular dystrophy (DMD). utrophin is best candidate for replacement DMD patients. To obtain therapeutic levels expression dystrophic muscle, we developed an alternative strategy based on use artificial zinc finger transcription factors (ZF ATFs). ZF ATF 'Jazz' was recently engineered and tested vivo by generating a transgenic mouse specifically expressing Jazz at level. validate technology treatment generated second...
During the COVID-19 outbreak, European Reference Network on Rare Bone Diseases (ERN BOND) coordination team and Italian rare bone diseases healthcare professionals created "COVID-19 Helpline for Diseases" in an attempt to provide high-quality information expertise remotely patients professionals. The present position statement describes key characteristics of initiative, along with main aspects topics that recurrently emerged as central highlighted are general recommendations, pulmonary...
This manuscript explores significant advancements and emerging challenges in CAR T cell therapies, focusing on the production methodologies regulatory complexities. The discussion highlights ongoing like lack of vivo persistence, lengthy times, elevated costs associated with current therapies. It analyzes innovative solutions such as genetic engineering techniques aimed at enhancing cellular efficacy endurance, alongside cutting-edge manufacturing processes, including closed systems...
Numerous therapeutic approaches for Duchenne and Becker Muscular Dystrophy (DMD BMD), the most common X-linked muscle degenerative disease, have been proposed. So far, only one showing a clear beneficial effect is use of corticosteroids. Recent evidence indicates an improvement dystrophic cardiac skeletal muscles in presence sustained cGMP levels secondary to blocking their degradation by phosphodiesterase five (PDE5). Due these data, we performed study investigate specific PDE5 inhibitor,...