91 results on '"Garanto, A."'
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2. “Vá bater naquele negro que eu garanto”
3. Antisense Oligonucleotide-Based Rescue of Complex Intronic Splicing Defects in ABCA4
4. Development and Use of Cellular Systems to Assess and Correct Splicing Defects
5. Delivery of Antisense Oligonucleotides to the Mouse Retina
6. Considerations for Generating Humanized Mouse Models to Test Efficacy of Antisense Oligonucleotides
7. Antisense RNA Therapeutics: A Brief Overview
8. Jesús Garanto
9. Preclinical Development of Antisense Oligonucleotides to Rescue Aberrant Splicing Caused by an Ultrarare ABCA4 Variant in a Child with Early-Onset Stargardt Disease
10. Navigating Human Astrocyte Differentiation: Direct and Rapid one-step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network development
11. Proof-of-concept for multiple AON delivery by a single U7snRNA vector to restore splicing defects in ABCA4
12. Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi
13. Generation of an iPSC line (RMCGENi020-A) from a patient with Stargardt disease harboring the recurrent intronic ABCA4 variant c.4253 + 43G > A
14. Generation of an induced pluripotent stem cell line carrying biallelic deletions (SCTCi019-B) in ALDH7A1 using CRISPR/Cas9
15. Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution
16. Experimental Model Systems Used in the Preclinical Development of Nucleic Acid Therapeutics
17. In search of competitive advantage: contemporary change in the Japanese apparel industry
18. RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies
19. Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
20. CRISPR-Cas9 correction of a nonsense mutation in LCA5 rescues lebercilin expression and localization in human retinal organoids
21. In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis
22. Gene augmentation of LCA5-Leber congenital amaurosis ameliorates bulge region defects of the photoreceptor ciliary axoneme
23. Exploring genotype–phenotype correlations in glutaric aciduria type 1
24. Comparative Clustering (CompaCt) of eukaryote complexomes identifies novel interactions and sheds light on protein complex evolution
25. Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
26. Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia
27. Probing the sub-cellular mechanisms of LCA5-Leber Congenital Amaurosis and associated gene therapy with expansion microscopy
28. Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease
29. The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner
30. Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies
31. Generation of an iPSC line (SCTCi014-A) and isogenic control line (SCTCi014-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
32. Generation of an iPSC line (SCTCi015-A) and isogenic control line (SCTCi015-A-1) from an age-related macular degeneration patient carrying the variant c.355G>A in the CFI gene
33. Identification of a Complex Allele in IMPG2 as a Cause of Adult-Onset Vitelliform Macular Dystrophy
34. How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
35. Clinical and biochemical footprints of inherited metabolic disorders. VII. Ocular phenotypes
36. CLINICAL AND BIOCHEMICAL FOOTPRINTS OF INHERITED METABOLIC DISORDERS: A LESSON FROM THE KNOWLEDGEBASE
37. Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65
38. Combining Zebrafish and Mouse Models to Test the Function of Deubiquitinating Enzyme (Dubs) Genes in Development: Role of USP45 in the Retina
39. Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies
40. Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
41. Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene
42. Implications of genetic variation in the complement system in age-related macular degeneration
43. A look into retinal organoids: methods, analytical techniques, and applications
44. Antisense Oligonucleotide-Based Rescue of Aberrant Splicing Defects Caused by 15 Pathogenic Variants in ABCA4
45. Delivery of oligonucleotide‐based therapeutics: challenges and opportunities
46. The Deubiquitinating Enzyme Ataxin-3 Regulates Ciliogenesis and Phagocytosis in the Retina
47. Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
48. Geely Hybrid System’s Noise, Vibration, and Harshness Development
49. PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
50. In or Out? New Insights on Exon Recognition through Splice-Site Interdependency
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