Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
about
Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopiaFirst implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotypeCharacterisation of a C1qtnf5 Ser163Arg knock-in mouse model of late-onset retinal macular degenerationDisruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiationGenome-wide association analyses identify three new susceptibility loci for primary angle closure glaucomaEvolution of the eye transcriptome under constant darkness in Sinocyclocheilus cavefishNovel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular foldsAcquired retinoschisis resolved after 23Gage pars plana vitrectomy in posterior microphthalmos.Enzymatic regulation of pattern: BMP4 binds CUB domains of Tolloids and inhibits proteinase activity.CRISPR-Cas Genome Surgery in Ophthalmology.A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.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.Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations.Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.Heritability and familial aggregation of refractive error in the Old Order Amish.A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degenerationGenetic analysis of axial length genes in high grade myopia from Indian population.Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15.Mutations in a novel serine protease PRSS56 in families with nanophthalmos.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.Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa.Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos.A novel crumbs homolog 1 mutation in a family with retinitis pigmentosa, nanophthalmos, and optic disc drusen.Association of frizzled-related protein (MFRP) and heat shock protein 70 (HSP70) single nucleotide polymorphisms with primary angle closure in a Han Chinese population: Jiangsu Eye Study.Characterization of Wnt signaling during photoreceptor degenerationThe genetic mechanisms of primary angle closure glaucoma.Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.Epithelial phenotype and the RPE: is the answer blowing in the Wnt?Evaluation of MFRP as a candidate gene for high hyperopia.Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma.Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segmentsCompound heterozygosity for a novel and a recurrent MFRP gene mutation in a family with the nanophthalmos-retinitis pigmentosa complex.High susceptibility to experimental myopia in a mouse model with a retinal on pathway defectNaturally occurring animal models with outer retina phenotypes.Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages.Molecular genetics in glaucoma.
P2860
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P2860
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
description
2005 nî lūn-bûn
@nan
2005 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
Extreme hyperopia is the resul ...... des a Frizzled-related protein
@nl
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@ast
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en-gb
type
label
Extreme hyperopia is the resul ...... des a Frizzled-related protein
@nl
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@ast
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en-gb
prefLabel
Extreme hyperopia is the resul ...... des a Frizzled-related protein
@nl
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@ast
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en-gb
P2093
P2860
P3181
P356
P1476
Extreme hyperopia is the resul ...... es a Frizzled-related protein.
@en
P2093
Cameron F Parsa
Cathy Dibernardo
Elias I Traboulsi
Ethan M Weinberg
Gregory S Leppert
Irene H Maumenee
Janet S Sunness
Jeffrey Toy
Jun-Ming Yang
Luisa Coutinho Santos
P2860
P304
P3181
P356
10.1073/PNAS.0501451102
P407
P577
2005-06-23T00:00:00Z