286 results on '"D'Angelo, Rosalia"'
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2. Methylome analysis of endothelial cells suggests new insights on sporadic brain arteriovenous malformation
3. The genomic mosaic of mitochondrial dysfunction: Decoding nuclear and mitochondrial epigenetic contributions to maternally inherited diabetes and deafness pathogenesis
4. From powerhouse to regulator: The role of mitoepigenetics in mitochondrion-related cellular functions and human diseases
5. Investigating G-quadruplex structures in RPGR gene: Implications for understanding X-linked retinal degeneration
6. Amplification of protease-activated receptors signaling in sporadic cerebral cavernous malformation endothelial cells
7. N-retinylidene-N-retinylethanolamine adduct induces expression of chronic inflammation cytokines in retinal pigment epithelium cells
8. New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies
9. Exploring Trimethylaminuria: Genetics and Molecular Mechanisms, Epidemiology, and Emerging Therapeutic Strategies.
10. Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells
11. Efficacy of an experimental gaseous ozone-based sterilization method for clear aligners
12. An Innovative Gene Prioritization Pipeline for DNA-Sequencing Analyses
13. Innovations in Data Visualization for Straightforward Interpretation of Nucleic Acid Omics Outcomes
14. Variant Calling on RNA Sequencing Data: State of Art and Future Perspectives
15. New Integrated Mitochondrial DNA Bioinformatics Pipeline to Improve Quality Assessment of Putative Pathogenic Variants from NGS Experiments
16. Subject Index
17. New Integrated Differential Expression Approach for RNA-Seq Data Analysis
18. Bridging Retinal and Cerebral Neurodegeneration: A Focus on Crosslinks between Alzheimer–Perusini’s Disease and Retinal Dystrophies
19. Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations
20. Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis
21. GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case–control study in a Sicilian population
22. How Many Alzheimer–Perusini’s Atypical Forms Do We Still Have to Discover?
23. Retraction Note: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis
24. Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations
25. RETRACTED ARTICLE: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis
26. The impact of modifier genes on cone-rod dystrophy heterogeneity: An explorative familial pilot study and a hypothesis on neurotransmission impairment
27. Deciphering impact of single nucleotide polymorphisms on cotranscriptional modification in CCM gene mRNAs
28. miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions
29. Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
30. Epitranscriptome Analysis of Oxidative Stressed Retinal Epithelial Cells Depicted a Possible RNA Editing Landscape of Retinal Degeneration
31. Evidences of PIEZO1 involvement in cerebral cavernous malformation pathogenesis
32. Editome landscape of CCM-derived endothelial cells
33. Raman Spectroscopic Study of Amyloid Deposits in Gelatinous Drop-like Corneal Dystrophy
34. Adaptive Modelling of Mutated FMO3 Enzyme Could Unveil Unexplored Scenarios Linking Variant Haplotypes to TMAU Phenotypes
35. The Combination of New Missense Mutation with [A(TA)7TAA] Dinucleotide Repeat in UGT1A1 Gene Promoter Causes Gilbertʼs Syndrome
36. Absence of mutations at SERPINI1 gene in a cohort of patients with Cerebral Cavernous Malformations
37. Oxidative Stress and the Neurovascular Unit
38. Impairments of Photoreceptor Outer Segments Renewal and Phototransduction Due to a Peripherin Rare Haplotype Variant: Insights from Molecular Modeling
39. Gut-Brain Axis Cross-Talk and Limbic Disorders as Biological Basis of Secondary TMAU
40. Mutation Analysis of CCM1, CCM2 and CCM3 Genes in a Cohort of Italian Patients with Cerebral Cavernous Malformation
41. New Omics—Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?
42. Advances in Bioinformatics, Biostatistics and Omics Sciences
43. Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin
44. Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells
45. Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline
46. Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis
47. Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa
48. Transcriptome Analyses of lncRNAs in A2E-Stressed Retinal Epithelial Cells Unveil Advanced Links between Metabolic Impairments Related to Oxidative Stress and Retinitis Pigmentosa
49. Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies
50. Advances in Bioinformatics, Biostatistics and Omic Sciences
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