175 results on '"Chessa, Luciana"'
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2. Altered NK-cell compartment and dysfunctional NKG2D/NKG2D-ligand axis in patients with ataxia-telangiectasia
3. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)
4. Detection of ATM Gene Mutation in Human Glioma Cell Line M059J by a Rapid Frameshift/Stop Codon Assay in Yeast
5. p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway
6. The Ataxia-Telangiectasia Gene Product, a Constitutively Expressed Nuclear Protein that is not Up-Regulated Following Genome Damage
7. In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia
8. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism
9. Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone
10. Forward subtractive libraries containing genes transactivated by dexamethasone in ataxia-telangiectasia lymphoblastoid cells
11. P53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes
12. Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review
13. l-Carnitine enhances resistance to oxidative stress by reducing DNA damage in Ataxia telangiectasia cells
14. Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: Comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention
15. Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy
16. Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks
17. DNA damage-induced cell-cycle phase regulation of p53 and p21waf1 in normal and ATM-defective cells
18. A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia
19. Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia
20. Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences
21. Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families
22. Genotype-phenotype relationships in ataxia-telangiectasia and variants
23. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
24. SMC1 involvement in fragile site expression
25. Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage
26. Identification and characterization of polymorphic variations of the ataxia telangiectasia mutated (ATM) gene in childhood Hodgkin disease
27. Regarding some aspects of the positive and negative effects of ionizing and medical treatment of pediatric brain tumors
28. MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder
29. A single ataxia telangiectasia gene with a product similar to Pl-3 kinase
30. Syndromes associated with simple calvarial and complex craniofacial anomalies
31. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing
32. Skewed T-cell receptor repertoire, decreased thymic output, and predominance of terminally differentiated T cells in ataxia telangiectasia
33. Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report
34. A variant of the Nijmegen breakage syndrome with unusual cytogenetic features and intermediate cellular radiosensitivity
35. Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38.
36. Genotype-phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations.
37. Increased HK1 activity levels in the red cells of a patient with a de novo trisomy 10p: t(Y;10)(p11;p12)
38. Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.
39. In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
40. ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
41. Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
42. A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
43. Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber’s Hereditary Optic Neuropathy Cells.
44. Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.
45. Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
46. Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.
47. Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial.
48. Identification of a potential 'hotspot' DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation.
49. Critical Involvement of the ATM-Dependent DNA Damage Response in the Apoptotic Demise of HIV-1- Elicited Syncytia.
50. DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations.
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