(Q35892073)

11 August 2017

Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept (English)

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11 August 2017

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Astra Dinculescu

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Samuel G. Jacobson

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Samuel G Jacobson

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author name string

Astra Dinculescu

1

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11 August 2017

Jackie Estreicher

2

1 reference

11 August 2017

Juan C Zenteno

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11 August 2017

Tomas S Aleman

4

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11 August 2017

Sharon B Schwartz

5

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11 August 2017

Wei Chieh Huang

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11 August 2017

Alejandro J Roman

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11 August 2017

Alexander Sumaroka

8

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11 August 2017

Qiuhong Li

9

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11 August 2017

Wen-Tao Deng

10

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11 August 2017

Seok-Hong Min

11

1 reference

11 August 2017

Vince A Chiodo

12

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11 August 2017

Andy Neeley

13

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11 August 2017

Xuan Liu

14

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11 August 2017

Xinhua Shu

15

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11 August 2017

Margarita Matias-Florentino

16

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11 August 2017

Beatriz Buentello-Volante

17

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11 August 2017

Sanford L Boye

18

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11 August 2017

Artur V Cideciyan

19

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11 August 2017

William W Hauswirth

20

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11 August 2017

language of work or name

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26 January 2012

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11 August 2017

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11 August 2017

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11 August 2017

4

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11 August 2017

367-376

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174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Long-term retinal function and structure rescue using capsid mutant AAV8 vector in the rd10 mouse, a model of recessive retinitis pigmentosa.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

The retinal pigment epithelium in health and disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Correlation between refractive error, corneal power, and thickness in a large population with a wide range of ametropia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Novel properties of tyrosine-mutant AAV2 vectors in the mouse retina

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Arrested development: high-resolution imaging of foveal morphology in albinism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Normal central retinal function and structure preserved in retinitis pigmentosa.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

High-efficiency transduction of the mouse retina by tyrosine-mutant AAV serotype vectors

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Visual insignificance of the foveal pit: reassessment of foveal hypoplasia as fovea plana

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Developmental basis of nanophthalmos: MFRP Is required for both prenatal ocular growth and postnatal emmetropization

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

The classical and regulatory functions of C1q in immunity and autoimmunity

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Rodent electroretinography: methods for extraction and interpretation of rod and cone responses

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Human cone photoreceptor dependence on RPE65 isomerase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

XIAP protection of photoreceptors in animal models of retinitis pigmentosa

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

The retinal pigment epithelium apical microvilli and retinal function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

A new autosomal recessive syndrome consisting of posterior microphthalmos, retinitis pigmentosa, foveoschisis, and optic disc drusen is caused by a MFRP gene mutation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Spatial and temporal expression of MFRP and its interaction with CTRP5.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Axial length and optic disc size in normal eyes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

The retinal pigment epithelium in visual function

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

C1q and tumor necrosis factor superfamily: modularity and versatility

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Insights into Wnt binding and signalling from the structures of two Frizzled cysteine-rich domains

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Ontogeny of the primate fovea: a central issue in retinal development

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma--a new syndrome?

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Human retinal disease from AIPL1 gene mutations: foveal cone loss with minimal macular photoreceptors and rod function remaining

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Retinal disease in Rpe65-deficient mice: comparison to human leber congenital amaurosis due to RPE65 mutations

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

CERKL mutations cause an autosomal recessive cone-rod dystrophy with inner retinopathy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Optical coherence tomography findings for nanophthalmic eyes

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

AAV-mediated gene therapy for retinal degeneration in the rd10 mouse containing a recessive PDEbeta mutation

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

A novel mutation confirms MFRP as the gene causing the syndrome of nanophthalmos-renititis pigmentosa-foveoschisis-optic disk drusen

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

The mouse's eye and Mfrp: not quite human

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

[Central and peripheral corneal pachymetry--standard evaluation with the Pentacam system]

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Quantifying rod photoreceptor-mediated vision in retinal degenerations: dark-adapted thresholds as outcome measures

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Frizzled receptor dimerization is sufficient to activate the Wnt/beta-catenin pathway.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Spinocerebellar ataxia type 7 (SCA7) shows a cone-rod dystrophy phenotype

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Phenotypic marker for early disease detection in dominant late-onset retinal degeneration.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Remodeling of the Human Retina in Choroideremia: Rab Escort Protein 1 (REP-1) Mutations

24 September 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

24 September 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Interocular asymmetry of visual function in heterozygotes of X-linked retinitis pigmentosa

14 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3327606

Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens

24 September 2018

1 reference

12 December 2020

Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration

1 reference

12 December 2020

Volume and depth of the anterior chamber in the normal aging human eye

1 reference

12 December 2020

Automated Light- and Dark- Adapted Perimetry for Evaluating Retinitis Pigmentosa

1 reference

12 December 2020

Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma. A new recessive syndrome

1 reference

12 December 2020

Retinitis pigmentosa, nanophthalmos, and optic disc drusen: a case report

1 reference

12 December 2020

Identifiers

DOI

10.1089/HUM.2011.169

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

22142163

1 reference