(Q35618559)

English

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects

scientific article published on 4 June 2014

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scholarly article

1 reference

Europe PubMed Central

9 August 2017

Gene therapy in patient-specific stem cell lines and a preclinical model of retinitis pigmentosa with membrane frizzled-related protein defects (English)

1 reference

Europe PubMed Central

9 August 2017

0 references

1 reference

based on heuristic

inferred from title

retinitis pigmentosa

1 reference

based on heuristic

inferred from title

12

object named as

Dieter Egli

1 reference

Europe PubMed Central

9 August 2017

Lawrence Yannuzzi

9

object named as

Lawrence A Yannuzzi

1 reference

Europe PubMed Central

9 August 2017

Takayuki Nagasaki

7

object named as

Takayuki Nagasaki

1 reference

Europe PubMed Central

9 August 2017

author name string

Yao Li

1

1 reference

Europe PubMed Central

9 August 2017

Wen-Hsuan Wu

2

1 reference

Europe PubMed Central

9 August 2017

Chun-Wei Hsu

3

1 reference

Europe PubMed Central

9 August 2017

Huy V Nguyen

4

1 reference

Europe PubMed Central

9 August 2017

Yi-Ting Tsai

5

1 reference

Europe PubMed Central

9 August 2017

Lawrence Chan

6

1 reference

Europe PubMed Central

9 August 2017

Irene H Maumenee

8

1 reference

Europe PubMed Central

9 August 2017

Quan V Hoang

10

1 reference

Europe PubMed Central

9 August 2017

Haiqing Hua

11

1 reference

Europe PubMed Central

9 August 2017

Stephen H Tsang

13

1 reference

Europe PubMed Central

9 August 2017

publication date

4 June 2014

1 reference

Europe PubMed Central

9 August 2017

Molecular Therapy

1 reference

Europe PubMed Central

9 August 2017

22

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Europe PubMed Central

9 August 2017

9

1 reference

Europe PubMed Central

9 August 2017

1688-1697

1 reference

Europe PubMed Central

9 August 2017

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Mid-stage intervention achieves similar efficacy as conventional early-stage treatment using gene therapy in a pre-clinical model of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

iPSC-derived β cells model diabetes due to glucokinase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

AAV-mediated gene therapy for choroideremia: preclinical studies in personalized models

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Human induced pluripotent stem cells as a tool to model a form 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=4435479

12 July 2018

Quantitative fundus autofluorescence in mice: correlation with HPLC quantitation of RPE lipofuscin and measurement of retina outer nuclear layer thickness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Long-term safety and efficacy of human-induced pluripotent stem cell (iPS) grafts in a preclinical model of retinitis pigmentosa

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Modeling retinal degeneration using patient-specific induced pluripotent stem cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Therapeutic potential of appropriately evaluated safe-induced pluripotent stem cells for spinal cord injury

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Transplantation of reprogrammed embryonic stem cells improves visual function in a mouse model for retinitis pigmentosa.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

A chemical platform for improved induction of human iPSCs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Directed differentiation of human embryonic stem cells into functional retinal pigment epithelium cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

A protocol for the culture and differentiation of highly polarized human retinal pigment epithelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Functional rescue of degenerating photoreceptors in mice homozygous for a hypomorphic cGMP phosphodiesterase 6 b allele (Pde6bH620Q).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Confluent monolayers of cultured human fetal retinal pigment epithelium exhibit morphology and physiology of native tissue.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Structural and functional anatomy of the globular domain of complement protein C1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

12 July 2018

Simultaneous qualitative and quantitative analysis of the Escherichia coli proteome: a sweet tale

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4435479

25 September 2018

Identifiers

10.1038/MT.2014.100

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

1 reference

Europe PubMed Central

9 August 2017

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