A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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Special Issue Introduction: Inherited Retinal Disease: Novel Candidate Genes, Genotype-Phenotype Correlations, and Inheritance Models.

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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P1476

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290

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P2093

Anneke I den Hollander

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Francoise J M Klessens-Godfroy

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Frans C C Riemslag

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Frans P M Cremers

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Herman E Talsma

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L Ingeborgh van den Born

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Marijke N Zonneveld-Vrieling

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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

CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders

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

A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

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scholarly article

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10.3390/GENES8080208

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Susanne Roosing

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2017-08-22T00:00:00Z

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28829391

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5575671

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A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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P2860

P2860

A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.

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P1476

P2093

P2860

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P356

P433

P478

P50

P577

P698

P932

P356

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P1476

P2093

P2860

P31

P356

P433

P478

P50

P577

P698

P932