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Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.

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Showing 1 to 20 of 36 for “"Settore MED/03 - Genetica Medica"”.

  1. AIRWAY SURFACE HYPERVISCOSITY AND DEFECTIVE MUCOCILIARY TRANSPORT BY IL-17/TNF-ALPHA ARE CORRECTED BY BETA-ADRENERGIC STIMULUS

    GUIDONE, DANIELAUniversità degli Studi di Milano2023

    The fluid covering the surface of airway epithelia represents a first barrier against pathogens. The chemical and physical properties of the airway surface fluid are controlled by the activity of ion channels and transporters. In cystic fibrosis (CF), loss of CFTR chloride channel function causes …

    milano Repository record

  2. MOLECULAR STUDY OF CHROMATINOPATHIES: THE CASE OF RUBINSTEIN-TAYBI AND RETT SYNDROMES

    DI FEDE, ELISABETTAUniversità degli Studi di Milano2023

    Background: Chromatinopathies are defined as a group of disorders displaying mutations in genes of the epigenetic apparatus and sharing clinical features such as intellectual disability and abnormal growth. Among them, Rubinstein-Taybi syndrome (RSTS) is characterized by CBP/p300 …

    milano Repository record

  3. FUNCTIONAL ROLE OF NON-CODING REGULATORY VARIANTS IN NEUROBLASTOMA

    TIRELLI, MATILDEUniversità degli Studi di Milano2024

    Emerging evidence suggests that non-coding somatic variants in cancer can contribute to disease, mainly by residing in functional regulatory regions and ultimately affecting gene expression networks. However, their interpretation is challenging. In our recent work, whole-genome sequencing (WGS) …

    milano Repository record

  4. Treatment of Dexamethasone in A-T patients derived cell lines: investigation of the drug effects in different ATM signalling pathways.

    Brusco, Alfredo, Pozzi, ElisaUniversità degli Studi di Torino2018

    unito Repository record

  5. NOVEL DISEASE GENES DISCOVERY AND INNOVATIVE APPROACHES FOR INVESTIGATING NEURODEVELOPMENTAL DISORDERS

    Brusco, Alfredo, Pullano, VerdianaUniversità degli Studi di Torino2025

    unito Repository record

  6. EPIGENOMICS OF MESOTHELIOMA: computational methods in cancer research

    Matullo, Giuseppe, Cugliari, GiovanniUniversità degli Studi di Torino2023

    unito Repository record

  7. NEUROWES PROJECT: FROM WHOLE EXOME SEQUENCING DATA ANALYSIS TO FUNCTIONAL CHARACTERIZATION OF NOVEL NDD-ASSOCIATED GENES

    Brusco, Alfredo, Pavinato, LisaUniversità degli Studi di Torino2023

    unito Repository record

  8. PRECISION MEDICINE IN SOLID ORGAN TRANSPLANTATION: DONOR-DERIVED CELL-FREE DNA AS A VALUABLE NON-INVASIVE MARKER OF GRAFT INJURY AND REJECTION

    Amoroso, Antonio, Deaglio, Silvia, Sorbini, MonicaUniversità degli Studi di Torino2024

    unito Repository record

  9. MtDNA mutations as modifiers in tumor progression: searching for their genetic causes through oncocytomas associated to cancer predisposing syndromes

    De Luise, MonicaUniversità degli Studi di Torino2019

    unito Repository record

  10. Quantifying Genetic Risk in Complex Diseases through the integration of Rare and Common Variants

    Matullo, Giuseppe, Debernardi, CarlaUniversità degli Studi di Torino2025

    unito Repository record

  11. Non-coding RNA markers and microbiome composition in stool samples for a precision medicine approach: a study on Lynch syndrome, a colorectal cancer-related disease

    Costelli, Paola, Francescato, GiuliaUniversità degli Studi di Torino2026

    unito Repository record

  12. DNA methylation as a potential mediator of environmental risks in cancer

    Richiardi, Lorenzo, Fasanelli, FrancescaUniversità degli Studi di Torino2018

    unito Repository record

  13. The human ectoenzyme CD73 (5’ Ectonucleotidase): analysis of its role in physiology and pathology by means of specific monoclonal antibodies.

    Malavasi, Fabio, Mariani, ValentinaUniversità degli Studi di Torino2018

    unito Repository record

  14. Therapeutic approaches in gastric cancer based on genetic and biological analysis

    Giordano, Silvia, Giachino, Claudia, De Miranda Capeloa, Tania IsabelUniversità degli Studi di Torino2018

    unito Repository record

  15. Genetic basis of Cerebral Cavernous Malformation and genetic modifiers of disease severity

    Retta, Saverio Francesco, Benedetti, ValerioUniversità degli Studi di Torino2021

    unito Repository record

  16. Development of a novel cellular model to understand genotype-phenotype correlations for Polycystic Kidney Disease patients exploiting CRISPR/Cas9

    Deaglio, Silvia, Bussolati, Benedetta, Migliorero, MartinaUniversità degli Studi di Torino2024

    unito Repository record

  17. Studi di associazione e sequenziamento estesi a tutto il genoma: il Progetto ProgeNIA

    BUSONERO, FABIOUniversità degli Studi di Cagliari2011

    cagliari Repository record

  18. Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.

    ANNI, FRANCOUniversità degli Studi di Cagliari2007

    Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, …

    cagliari Repository record

  19. Bioinformatics e Biostatistics applied to research in pediatric genetic disease. Clinical evidence in IFNλ4 polymorphisms associated with HCV infection in patients with beta thalassemia and WGCNA analysis weighted for IFNλ4 genotype rs12979860 to detect RPL9P18 as hub in HCV infected cell.

    MARCEDDU, GIUSEPPEUniversità degli Studi di Cagliari2015

    … predictive than CC. Another polymorphism rs4803221 was analyzed because had independent effects respect to rs12979860. The haplotype tagged by SNP rs12979860 and rs4803221 significantly could improve the viral clearance prediction in infected patients. Neither necrotic-inflammation or …

    cagliari Repository record

  20. Malattie rare in genetica clinica: variabilità e distribuzione nella popolazione sarda, applicazione di test genetici, studio delle nuove prospettive terapeutiche

    MARICA, MONICAUniversità degli Studi di Cagliari2006

    … un gruppo di disordini degenerativi del muscolo geneticamente eterogeneo, caratterizzato da progressiva perdita della forza e dell’integrità muscolare. Distrofia muscolare è un termine generico che descrive un gruppo di disordini miogenici ereditari, caratterizzati da una progressiva …

    cagliari Repository record

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