The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. (Q30499095)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21257638%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21257638%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

0 references

6

1 reference

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20 January 2020

Val C Sheffield

7

1 reference

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20 January 2020

author name string

Lisa M Baye

1

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20 January 2020

Xiaobai Patrinostro

2

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20 January 2020

Svetha Swaminathan

3

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20 January 2020

John S Beck

4

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20 January 2020

Yan Zhang

5

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20 January 2020

Diane C Slusarski

8

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20 January 2020

publication date

21 January 2011

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20 January 2020

published in

Human Molecular Genetics

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20 January 2020

volume

20

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20 January 2020

issue

8

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20 January 2020

page(s)

1467-1477

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

20 January 2020

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20 June 2018

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20 June 2018

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20 June 2018

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Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

20 June 2018

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

20 June 2018

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

20 June 2018

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

20 June 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

20 June 2018

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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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20 June 2018

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Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

26 November 2018

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Intraflagellar transport genes are essential for differentiation and survival of vertebrate sensory neurons.

26 November 2018

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Regulatory control of both microtubule- and actin-dependent fish melanosome movement

26 November 2018

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Mutation in CEP290 discovered for cat model of human retinal degeneration

26 November 2018

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PubMed

https://pubmed.ncbi.nlm.nih.gov/21257638

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Passage of newly formed protein through the connecting cilium of retinal rods in the frog

1 reference

PubMed

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inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR025

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21257638%20AND%20SRC:MED&resulttype=core&format=json

release_sydsovxz55d4blpsvi2ru55lfq

20 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/sydsovxz55d4blpsvi2ru55lfq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21257638%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference