Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis (Q34633991)

3 August 2017

title

Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis (English)

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3 August 2017

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Chris F Inglehearn

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Michael E. Cheetham

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Michael E Cheetham

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Joris A Veltman

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Joris A Veltman

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Marius Ueffing

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object named as

Marius Ueffing

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Robert K Koenekoop

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Marijke N Zonneveld

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Anneke I den Hollander

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Tim M Strom

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Moin D Mohamed

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Heleen H Arts

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Karsten Boldt

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Katherine V Towns

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Tina Sedmak

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Monika Beer

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Kerstin Nagel-Wolfrum

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Martin McKibbin

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Sharola Dharmaraj

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Irma Lopez

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Lenka Ivings

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Grange A Williams

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Kelly Springell

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C Geoff Woods

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Hussain Jafri

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Yasmin Rashid

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Bert van der Zwaag

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Ilse Gosens

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Ferry F J Kersten

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Erwin van Wijk

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Sylvia E C van Beersum

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Irene H Maumenee

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Uwe Wolfrum

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Frans P M Cremers

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Ronald Roepman

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language of work or name

English

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publication date

3 June 2007

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3 August 2017

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volume

39

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issue

7

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page(s)

889-895

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A novel locus for Leber congenital amaurosis maps to chromosome 6q

3 August 2017

cites work

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Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

21 January 2018

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A proteomic analysis of human cilia: identification of novel components

21 January 2018

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The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

21 January 2018

1 reference

Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells

21 January 2018

1 reference

The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles

21 January 2018

1 reference

Dynactin is required for microtubule anchoring at centrosomes

21 January 2018

1 reference

Centrosome positioning in interphase cells

21 January 2018

1 reference

A generic protein purification method for protein complex characterization and proteome exploration

21 January 2018

1 reference

Characterization of centrosomal association of nucleophosmin/B23 linked to Crm1 activity

21 January 2018

1 reference

Interaction between ROCK II and nucleophosmin/B23 in the regulation of centrosome duplication

21 January 2018

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B23/nucleophosmin serine 4 phosphorylation mediates mitotic functions of polo-like kinase 1.

21 January 2018

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RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin

21 January 2018

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Specific localization of the catalytic subunits of protein kinase CK2 at the centrosomes

21 January 2018

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Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia

21 January 2018

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Casein kinase II and calcineurin modulate TRPP function and ciliary localization

21 January 2018

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14-3-3 proteins--an update

21 January 2018

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Association of 14-3-3 proteins with centrosomes

21 January 2018

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CPAP interacts with 14-3-3 in a cell cycle-dependent manner

21 January 2018

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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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1

21 January 2018

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Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations

21 January 2018

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The physical association of casein kinase 2 with nucleolin

21 January 2018

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7 January 2021

Linkage of a nucleolin-related protein and casein kinase II with the detergent-stable photoreceptor cytoskeleton

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7 January 2021

Direct regulation of microtubule dynamics by protein kinase CK2.

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7 January 2021

Compartmental localization of a metabotropic glutamate receptor (mGluR7): two different active sites at a retinal synapse

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7 January 2021

Identifiers

DOI

10.1038/NG2066

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3 August 2017

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