| scholarly article | Q13442814 |
| P50 | author | Arnold Munnich | Q2863363 |
| Jean-michel Rozet | Q43156966 | ||
| Eduardo Silva | Q45485109 | ||
| Josseline Kaplan | Q56839160 | ||
| Xavier Gérard | Q57759400 | ||
| Sylvain Hanein | Q114410082 | ||
| Isabelle Perrault | Q28354288 | ||
| P2093 | author name string | Daniel Scherman | |
| Antoine Kichler | |||
| Karine Bigot | |||
| Marlèene Rio | |||
| Sabine Defoort-Delhemmes | |||
| P2860 | cites work | A strategy for disease gene identification through nonsense-mediated mRNA decay inhibition | Q38301317 |
| Guidelines for antisense oligonucleotide design and insight into splice-modulating mechanisms | Q38360555 | ||
| The antibiotic and DNA-transfecting peptide LAH4 selectively associates with, and disorders, anionic lipids in mixed membranes. | Q40340350 | ||
| Integrated genomic and proteomic analyses of gene expression in Mammalian cells | Q40538549 | ||
| Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides | Q42807733 | ||
| Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. | Q42921860 | ||
| Discrepancy between mRNA and protein abundance: insight from information retrieval process in computers | Q43185972 | ||
| Leber congenital amaurosis: from darkness to spotlight | Q45880092 | ||
| FDA approves fomivirsen, famciclovir, and Thalidomide. Food and Drug Administration. | Q55034824 | ||
| Mutation in CEP290 discovered for cat model of human retinal degeneration | Q80346424 | ||
| Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes | Q24534395 | ||
| Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study | Q24616493 | ||
| Restoration of hemoglobin A synthesis in erythroid cells from peripheral blood of thalassemic patients | Q24670228 | ||
| In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse | Q24671808 | ||
| Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis | Q24678616 | ||
| Genetic therapies for RNA mis-splicing diseases | Q28235690 | ||
| Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis | Q28250847 | ||
| Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype | Q28292007 | ||
| Drug discovery for Duchenne muscular dystrophy via utrophin promoter activation screening | Q28477551 | ||
| Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse | Q28478068 | ||
| CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. | Q29614822 | ||
| Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy | Q33992484 | ||
| Systemic administration of PRO051 in Duchenne's muscular dystrophy | Q34172661 | ||
| Splicing in disease: disruption of the splicing code and the decoding machinery | Q34582131 | ||
| Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 | ||
| Bifunctional antisense oligonucleotides provide a trans-acting splicing enhancer that stimulates SMN2 gene expression in patient fibroblasts | Q34921907 | ||
| SR proteins as potential targets for therapy. | Q36640162 | ||
| The therapeutic potential of antisense-mediated exon skipping | Q37127482 | ||
| Substances that can change alternative splice-site selection | Q37164611 | ||
| Antisense-mediated modulation of splicing: therapeutic implications for Duchenne muscular dystrophy | Q37762685 | ||
| CEP290, a gene with many faces: mutation overview and presentation of CEP290base. | Q37778326 | ||
| P4510 | describes a project that uses | ImageJ | Q1659584 |
| P921 | main subject | congenital disorder | Q727096 |
| Leber congenital amaurosis | Q1811132 | ||
| P304 | page(s) | e29 | |
| P577 | publication date | 2012-06-26 | |
| P1433 | published in | Molecular Therapy. Nucleic acids | Q27724110 |
| P1476 | title | AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation | |
| P478 | volume | 1 |
| Q47957257 | ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease. |
| Q64947069 | AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? |
| Q41787118 | Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1. |
| Q92733152 | Antisense Oligonucleotide Screening to Optimize the Rescue of the Splicing Defect Caused by the Recurrent Deep-Intronic ABCA4 Variant c.4539+2001G>A in Stargardt Disease |
| Q38596893 | Antisense Oligonucleotide Therapy for Inherited Retinal Dystrophies. |
| Q55139997 | Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290. |
| Q38290325 | Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation |
| Q38184276 | Antisense-mediated exon skipping: taking advantage of a trick from Mother Nature to treat rare genetic diseases |
| Q58779052 | CRISPR-SKIP: programmable gene splicing with single base editors |
| Q40369908 | CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. |
| Q91045529 | Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides |
| Q92301757 | Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing |
| Q47943340 | Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies |
| Q91143094 | Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10 |
| Q39148199 | Formulation of pH responsive peptides as inhalable dry powders for pulmonary delivery of nucleic acids. |
| Q38660557 | From disease modelling to personalised therapy in patients with CEP290 mutations |
| Q40389854 | Histidine-rich designer peptides of the LAH4 family promote cell delivery of a multitude of cargo. |
| Q30389304 | Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan. |
| Q36209043 | IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. |
| Q36985099 | Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. |
| Q52662169 | Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease. |
| Q39829369 | In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery |
| Q40588004 | Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells |
| Q41362538 | In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. |
| Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
| Q49344878 | Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies |
| Q38915580 | Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations |
| Q39075571 | Manipulating the pH response of 2,3-diaminopropionic acid rich peptides to mediate highly effective gene silencing with low-toxicity |
| Q90241422 | Molecular Therapies for Choroideremia |
| Q92988365 | Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges |
| Q48472700 | Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy |
| Q90721963 | Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved "One-Hit" Cohort with Stargardt Disease |
| Q92301653 | RNA-Based Therapeutic Strategies for Inherited Retinal Dystrophies |
| Q41852634 | Simple and complex retinal dystrophies are associated with profoundly different disease networks |
| Q38901072 | Species-dependent splice recognition of a cryptic exon resulting from a recurrent intronic CEP290 mutation that causes congenital blindness |
| Q42370401 | Stem cells with a view: a look inside a retinal ciliopathy |
| Q92186510 | Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts |
| Q90862559 | Targeted exon skipping with AAV-mediated split adenine base editors |
| Q47110206 | The genetic profile of Leber congenital amaurosis in an Australian cohort |
| Q33360881 | Understanding disease pleiotropy: From puzzle to solution |
| Q35040273 | Unexpected CEP290 mRNA splicing in a humanized knock-in mouse model for Leber congenital amaurosis. |
| Q42370397 | Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology |
| Q37588148 | Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies |
Search more.