(Q30498337)

English

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy

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scholarly article

1 reference

Europe PubMed Central

19 October 2017

Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy (English)

1 reference

Europe PubMed Central

19 October 2017

0 references

photoreceptor protein

0 references

1 reference

based on heuristic

inferred from title

10

1 reference

Europe PubMed Central

19 October 2017

Samuel G. Jacobson

object named as

Samuel G Jacobson

9

0 references

object named as

Edwin M Stone

8

0 references

Artur V Cideciyan

1

object named as

Artur V Cideciyan

1 reference

Europe PubMed Central

19 October 2017

Alexander Sumaroka

6

object named as

Alexander Sumaroka

1 reference

Europe PubMed Central

19 October 2017

Sharon Schwartz

5

object named as

Sharon B Schwartz

1 reference

Europe PubMed Central

19 October 2017

2

object named as

Rivka A Rachel

1 reference

Europe PubMed Central

19 October 2017

author name string

Tomas S Aleman

3

1 reference

Europe PubMed Central

19 October 2017

Malgorzata Swider

4

1 reference

Europe PubMed Central

19 October 2017

Alejandro J Roman

7

1 reference

Europe PubMed Central

19 October 2017

publication date

18 January 2011

1 reference

Europe PubMed Central

19 October 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

19 October 2017

20

1 reference

Europe PubMed Central

19 October 2017

7

1 reference

Europe PubMed Central

19 October 2017

1411-1423

1 reference

Europe PubMed Central

19 October 2017

Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Treatment possibilities for retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Interpretations of fundus autofluorescence from studies of the bisretinoids of the retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

The genomic, biochemical, and cellular responses of the retina in inherited photoreceptor degenerations and prospects for the treatment of these disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Trafficking of membrane proteins to cone but not rod outer segments is dependent on heterotrimeric kinesin-II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

The primary cilium as a cellular signaling center: lessons from disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Age-dependent disease expression determines remodeling of the retinal mosaic in carriers of RPGR exon ORF15 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Leber congenital amaurosis: genes, proteins and disease mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Intraflagellar transport and the sensory outer segment of vertebrate photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

When cilia go bad: cilia defects and ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Protein networks and complexes in photoreceptor cilia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Effect of Rds abundance on cone outer segment morphogenesis, photoreceptor gene expression, and outer limiting membrane integrity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Transport of truncated rhodopsin and its effects on rod function and degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Intravitreal injection of ciliary neurotrophic factor (CNTF) causes peripheral remodeling and does not prevent photoreceptor loss in canine RPGR mutant retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Retention of function without normal disc morphogenesis occurs in cone but not rod photoreceptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Cone-like morphological, molecular, and electrophysiological features of the photoreceptors of the Nrl knockout mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

The genomic response to retinal disease and injury: evidence for endothelin signaling from photoreceptors to glia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Inherited retinal degenerations: therapeutic prospects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

GRK1-dependent phosphorylation of S and M opsins and their binding to cone arrestin during cone phototransduction in the mouse retina

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Nrl is required for rod photoreceptor development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Rapid restoration of visual pigment and function with oral retinoid in a mouse model of childhood blindness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

The major cell populations of the mouse retina.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

The retinal pigment epithelium: a versatile partner in vision.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Human photoreceptor topography

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

Transgenic mice with a rhodopsin mutation (Pro23His): a mouse model of autosomal dominant retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

20 June 2018

IQCB1 mutations in patients with leber congenital amaurosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Cone-rod dependence in the rat retina: variation with the rate of rod damage

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

The electroretinogram components in Abyssinian cats with hereditary retinal degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Retinal remodeling in inherited photoreceptor degenerations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Retinal remodeling triggered by photoreceptor degenerations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Augmented rod bipolar cell function in partial receptor loss: an ERG study in P23H rhodopsin transgenic and aging normal rats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3049361

26 November 2018

Mutation in CEP290 discovered for cat model of human retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The retinal pigment epithelium. II. Histologic changes associated with age

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipofuscin and melanin of human retinal pigment epithelium. Fluorescence, enzyme cytochemical, and ultrastructural studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rhodopsin levels and rod-mediated function in abyssinian cats with hereditary retinal degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histopathology of the human retina in retinitis pigmentosa

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Relation of optical coherence tomography to microanatomy in normal and rd chickens

1 reference

https://pubmed.ncbi.nlm.nih.gov/21245082

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDR022

1 reference

Europe PubMed Central

19 October 2017

1 reference

Europe PubMed Central

19 October 2017

1 reference

Europe PubMed Central

19 October 2017

ResearchGate publication ID

0 references

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