Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. - Test2 - elhamkhani - TriplyDB

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

http://www.wikidata.org/entity/Q36985099

about

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa Photoreceptor Outer Segment-like Structures in Long-Term 3D Retinas from Human Pluripotent Stem Cells Delivery is key: lessons learnt from developing splice-switching antisense therapies Harnessing the Potential of Human Pluripotent Stem Cells and Gene Editing for the Treatment of Retinal Degeneration.Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.Leber hereditary optic neuropathy: bridging the translational gap.Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions.Genome editing: the breakthrough technology for inherited retinal disease?Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Characterizing the morbid genome of ciliopathies.Recapitulation of Human Retinal Development from Human Pluripotent Stem Cells Generates Transplantable Populations of Cone Photoreceptors.Increased vulnerability of photoreceptors to aberrant splicing highlight the utility of AON-based therapy for CEP290-LCA.Strategies for retinal cell generation from human pluripotent stem cells.In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.Cornea organoids from human induced pluripotent stem cells.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Stem cells with a view: a look inside a retinal ciliopathy Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis.The genetic profile of Leber congenital amaurosis in an Australian cohort.Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells.Design and In Vitro Use of Antisense Oligonucleotides to Correct Pre-mRNA Splicing Defects in Inherited Retinal Dystrophies.ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease.Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration.Knock-in strategy at 3'-end of Crx gene by CRISPR/Cas9 system shows the gene expression profiles during human photoreceptor differentiation.Generation of a rod-specific NRL reporter line in human pluripotent stem cells.Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.Gene Correction Reverses Ciliopathy and Photoreceptor Loss in iPSC-Derived Retinal Organoids from Retinitis Pigmentosa Patients.Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.Potential of Gene Editing and Induced Pluripotent Stem Cells (iPSCs) in Treatment of Retinal Diseases.Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.Gene therapy and genome surgery in the retina.Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.Use of bioreactors for culturing human retinal organoids improves photoreceptor yields.Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.Drug screening for human genetic diseases using iPSC models Translational Retinal Research and Therapies

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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

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J.STEM.2016.03.021

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Identification and Correction ...... Human iPSC-Derived Optic Cups

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Amelia Lane

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Anthony T Moore

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Conor M Ramsden

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David A Parfitt

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Katarina Jovanovic

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Lyndon da Cruz

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Nele Schwarz

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Proteomic characterization of the human centrosome by protein correlation profiling

Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease

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

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

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769-781

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10.1016/J.STEM.2016.03.021

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Michael E. Cheetham

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Alison J Hardcastle

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2016-04-14T00:00:00Z

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