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Yan Zhang et al.
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Corey L. Williams et al.
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Tetsuo Kobayashi et al.
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Characterization of a Myosin VII MyTH/FERM Domain
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Aoife M. Waters et al.
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Yujie Li et al.
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Joubert syndrome Arl13b functions at ciliary membranes and stabilizes protein transport in Caenorhabditis elegans
Sebiha Cevik et al.
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CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
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Young-Goo Han et al.
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Nicholas T. Gorden et al.
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CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease
William Y. Tsang et al.
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Genetic and physical interaction between the NPHP5 and NPHP6 gene products
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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Joon Kim et al.
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Leber congenital amaurosis: Genes, proteins and disease mechanisms
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Loken syndrome
Juliana Helou et al.
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James R. Davenport et al.
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Cep97 and CP110 suppress a cilia assembly program
Alexander Spektor et al.
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CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders
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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome
Lekbir Baala et al.
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Rosemary B. Cornell et al.
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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
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome
Enza Maria Valente et al.
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A microtubule-binding myosin required for nuclear anchoring and spindle assembly
KL Weber et al.
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WJ Smith et al.
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15 Å resolution model of the monomeric kinesin motor, KIF1A
M Kikkawa et al.
CELL (2000)