436 results on '"Vezzoni, Paolo"'
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2. Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1
3. Rescue of ATPa3-Deficient Murine Malignant Osteopetrosis by Hematopoietic Stem Cell Transplantation in utero
4. Genetic Dissection of Dome Formation in a Mammary Cell Line: Identification of Two Genes with Opposing Action
5. The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
6. Anti-CD3ε mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications
7. Anti-VEGF Agents Confer Survival Advantages to Tumor-Bearing Mice by Improving Cancer-Associated Systemic Syndrome
8. PBX1-directed stem cell transcriptional program drives tumor progression in myeloproliferative neoplasm
9. Defect of regulatory T cells in patients with Omenn syndrome
10. Osteopetrosis with micro-lacunar resorption because of defective integrin organization
11. In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta
12. Organization of the Human CD40L Gene: Implications for Molecular Defects in X Chromosome-Linked Hyper-IgM Syndrome and Prenatal Diagnosis
13. A Homozygous Contiguous Gene Deletion in Chromosome 16p13.3 Leads to Autosomal Recessive Osteopetrosis in a Jordanian Patient
14. Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination
15. Prognostic potential of precise molecular diagnosis of Autosomal Recessive Osteopetrosis with respect to the outcome of bone marrow transplantation
16. Effects of IL-12 gene therapy on spontaneous transgenic and transplanted breast tumors
17. Autofluorescence properties of murine embryonic stem cells during spontaneous differentiation phases
18. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations
19. A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome
20. Growth of human melanoma xenografts is suppressed by systemic angiostatin gene therapy
21. Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome
22. 3073 – PBX1 GENETIC ABLATION INHIBITS TUMOR GROWTH IN A MOUSE MODEL OF MYELOPROLIFERATIVE NEOPLASM
23. Generation of an immunodeficient mouse model of tcirg1-deficient autosomal recessive osteopetrosis
24. Chromosome Transplantation: A Possible Approach to Treat Human X-linked Disorders
25. Generation of 3 clones of induced pluripotent stem cells (iPSCs) from a patient affected by Autosomal Recessive Osteopetrosis due to mutations in TCIRG1 gene.
26. Molecular and Clinical Heterogeneity in CLCN7-dependent Osteopetrosis: Report of 20 Novel Mutations
27. Genetic Influences on Moral Capacity: What Genetic Mutants Can Teach Us
28. Establishment and characterization of a new mammary adenocarcinoma cell line derived from MMTV neu transgenic mice
29. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA
30. The genetics of dominant osteopetrosis
31. Cell fusion is a physiological process in mouse liver
32. Reduced mammary tumor progression in a transgenic mouse model fed an isoflavone-poor soy protein concentrate
33. Partial V(D)J recombination activity leads to Omenn syndrome
34. RAG-Dependent Primary Immunodeficiencies
35. 4 Primary immunodeficiency mutation databases
36. SMC1 involvement in fragile site expression
37. The mutational spectrum of human malignant autosomal recessive osteopetrosis
38. Iron, neuromelanin and ferritin content in the substantia nigra of normal subjects at different ages: consequences for iron storage and neurodegenerative processes
39. The genetic and biochemical basis of Omenn syndrome
40. Absence of Dipeptidyl Peptidase 3 Increases Oxidative Stress and Causes Bone Loss
41. Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse Induced Pluripotent Stem Cells
42. Motor neuron degeneration, severe myopathy and TDP-43 increase in a transgenic pig model of SOD1-linked familiar ALS
43. Homozygosity and heterozygosity for the transthyretin Leu64 mutation: clinical, biochemical and molecular findings
44. Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
45. V(D)J recombination defects in lymphocytes due toRAG mutations: severe immunodeficiency with a spectrum of clinical presentations
46. Cell-based assay for the detection of chemically induced cellular stress by immortalized untransformed transgenic hepatocytes
47. Correction of a Recessive Genetic Defect by CRISPR-Cas9-Mediated Endogenous Repair
48. B lymphocytes limit senescence‐driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury
49. Cell fusion in the liver, revisited
50. Intrathymic Restriction and Peripheral Expansion of the T-Cell Repertoire in Omenn Syndrome
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