| scholarly article | Q13442814 |
| P50 | author | Hemant Khanna | Q83233957 |
| P2093 | author name string | Wei Zhang | |
| Qin Su | |||
| Guangping Gao | |||
| Linjing Li | |||
| P2860 | cites work | The Ciliopathies: An Emerging Class of Human Genetic Disorders | Q22337032 |
| Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis | Q24309344 | ||
| The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 | Q24336477 | ||
| CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease | Q24568058 | ||
| Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration | Q24617850 | ||
| Safety and efficacy of gene transfer for Leber's congenital amaurosis | Q24634724 | ||
| Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year | Q24634801 | ||
| 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 | ||
| Photoreceptor Sensory Cilium: Traversing the Ciliary Gate | Q26778955 | ||
| A comprehensive review of retinal gene therapy | Q27023914 | ||
| CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies | Q27301023 | ||
| Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis | Q28114986 | ||
| Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome | Q28239026 | ||
| Effect of gene therapy on visual function in Leber's congenital amaurosis | Q28277981 | ||
| Cilia and developmental signaling | Q28302606 | ||
| Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis | Q28305398 | ||
| Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial. | Q28306059 | ||
| Ciliopathies | Q29614821 | ||
| CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. | Q29614822 | ||
| Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy | Q30498337 | ||
| Retinal gene delivery by rAAV and DNA electroporation | Q30539515 | ||
| Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis | Q33919616 | ||
| Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse | Q34193510 | ||
| Lentiviral gene replacement therapy of retinas in a mouse model for Usher syndrome type 1B. | Q34608354 | ||
| Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome | Q34636894 | ||
| Leber congenital amaurosis: genes, proteins and disease mechanisms | Q34796759 | ||
| Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome | Q35032831 | ||
| Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies | Q35150162 | ||
| Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa | Q35751018 | ||
| Differential targeting of feline photoreceptors by recombinant adeno-associated viral vectors: implications for preclinical gene therapy trials. | Q35804801 | ||
| Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons | Q36023714 | ||
| DNA nanoparticle-mediated ABCA4 delivery rescues Stargardt dystrophy in mice. | Q36190772 | ||
| Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy | Q36226969 | ||
| Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. | Q36985099 | ||
| Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases | Q37047466 | ||
| Advances in Gene Therapy for Diseases of the Eye. | Q37190609 | ||
| Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR. | Q37336144 | ||
| Tailoring the AAV vector capsid for gene therapy. | Q37340302 | ||
| Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290. | Q39480239 | ||
| In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery | Q39829369 | ||
| Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. | Q41643474 | ||
| Subretinal injection of gene therapy vectors and stem cells in the perinatal mouse eye. | Q41955067 | ||
| CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype. | Q42051635 | ||
| Stem cells with a view: a look inside a retinal ciliopathy | Q42370401 | ||
| Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome | Q43232430 | ||
| Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E. | Q45864431 | ||
| Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy | Q45883916 | ||
| Cilia in photoreceptors | Q48249378 | ||
| The effect of peripherin/rds haploinsufficiency on rod and cone photoreceptors. | Q50526833 | ||
| Mutation in CEP290 discovered for cat model of human retinal degeneration | Q80346424 | ||
| P433 | issue | 1 | |
| P921 | main subject | photoreceptor protein | Q7187894 |
| gene therapy | Q213901 | ||
| congenital disorder | Q727096 | ||
| P304 | page(s) | 42-50 | |
| P577 | publication date | 2017-07-05 | |
| P1433 | published in | Human Gene Therapy | Q15757580 |
| P1476 | title | Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis | |
| P478 | volume | 29 |
| Q57456377 | A CEP290 C-Terminal Domain Complements the Mutant CEP290 of Rd16 Mice In Trans and Rescues Retinal Degeneration |
| Q64040883 | Adeno-associated virus vector as a platform for gene therapy delivery |
| Q64290037 | Delineating the role of eIF2α in retinal degeneration |
| Q90411005 | Eupatilin rescues ciliary transition zone defects to ameliorate ciliopathy-related phenotypes |
| Q91938470 | Gene Therapy Tools for Brain Diseases |
| Q54977409 | Gene therapy and genome surgery in the retina. |
| Q90405906 | Inherited Retinal Degenerations: Current Landscape and Knowledge Gaps |
| Q90152961 | Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision |
| Q50301044 | Managing Bardet–Biedl Syndrome—Now and in the Future. |
| Q64039678 | Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project |
| Q93183806 | Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model |
| Q92186510 | Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts |
| Q97093976 | The Role of Histone Acetyltransferases and Histone Deacetylases in Photoreceptor Differentiation and Degeneration |
| Q89844598 | Transient pupillary light reflex in CEP290- or NPHP5-associated Leber congenital amaurosis: Latency as a potential outcome measure of cone function |
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