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

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

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

http://www.wikidata.org/entity/Q37307190

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Functional roles of bestrophins in ocular epithelia NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD).Light-evoked responses of the retinal pigment epithelium: changes accompanying photoreceptor loss in the mouse.Glaucoma: genes, phenotypes, and new directions for therapy.Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.Membrane frizzled-related protein gene-related ophthalmological syndrome: 30-month follow-up of a sporadic case and review of genotype-phenotype correlation in the literature.Efficacy of topical dorzolamide therapy for cystoid macular edema in a patient with MFRP-related nanophthalmos-retinitis pigmentosa-foveoschisis-optic disk drusen syndrome.NHE8 is essential for RPE cell polarity and photoreceptor survival.174delG mutation in mouse MFRP causes photoreceptor degeneration and RPE atrophy.Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.Compound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.Naturally occurring animal models with outer retina phenotypes.Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.Cloning, characterization, and expression analysis of the pig (Sus scrofa) C1q tumor necrosis factor-related protein-5 gene.Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series.ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrp mouse

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P2860

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

http://www.wikidata.org/entity/Q37307190

description

article científic

@ca

article scientifique

@fr

articolo scientifico

@it

artigo científico

@pt

bilimsel makale

@tr

scientific article published on July 2008

@en

vedecký článok

@sk

vetenskaplig artikel

@sv

videnskabelig artikel

@da

vědecký článek

@cs

name

Membrane frizzled-related prot ...... f photoreceptor outer segments

@en

Membrane frizzled-related prot ...... photoreceptor outer segments.

@nl

type

label

Membrane frizzled-related prot ...... f photoreceptor outer segments

@en

Membrane frizzled-related prot ...... photoreceptor outer segments.

@nl

prefLabel

Membrane frizzled-related prot ...... f photoreceptor outer segments

@en

Membrane frizzled-related prot ...... photoreceptor outer segments.

@nl

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S0952523808080723

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Visual neuroscience

P1476

Membrane frizzled-related prot ...... f photoreceptor outer segments

@en

P2093

Jiang Wu

http://www.w3.org/2001/XMLSchema#string

Jungyeon Won

http://www.w3.org/2001/XMLSchema#string

Jürgen K Naggert

http://www.w3.org/2001/XMLSchema#string

Neal S Peachey

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Patsy M Nishina

http://www.w3.org/2001/XMLSchema#string

Richard S Smith

http://www.w3.org/2001/XMLSchema#string

Wanda L Hicks

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds)

Contribution of Kir4.1 to the mouse electroretinogram

Alms1-disrupted mice recapitulate human Alström syndrome.

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

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

Light-evoked responses of the mouse retinal pigment epithelium.

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.

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

P304

563-574

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scholarly article

P356

10.1017/S0952523808080723

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4

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25

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2008-07-01T00:00:00Z

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23231210

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18764959

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P921

Photoreceptor protein

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2727655

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