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MFRP gene

Known as: MFRP, C1QTNF5, rd6 
 
National Institutes of Health

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Related topics

1 relation
C1QTNF5 gene

Papers overview

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2020
2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with… Expand
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2019
2019
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa… Expand
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2019
2019
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Purpose Nanophthalmos is a rare genetic disorder commonly characterized by a short axial length (AL) and severe hyperopia… Expand
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2016
2016
Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages
Purpose Mutations in membrane frizzled-related protein (MFRP) are associated with nanophthalmia, hyperopia, foveoschisis… Expand
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2016
2016
Identification of MFRP Mutations in Chinese Families with High Hyperopia.
PURPOSE Mutations in MFRP have been reported to cause autosomal recessive posterior microphthalmia, nanophthalmos, and an… Expand
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2010
2010
STUDY ON CHOLESTEROL LOWERING COMPOUNDS IN RED YEAST RICE PREPARED FROM THAI GLUTINOUS RICE
Red yeast rice which is a product of solid fermentation was prepared from several kinds of Thai glutinous rice (Oryza sativa L… Expand
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2008
2008
Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes
Purpose The genetic basis of primary angle closure glaucoma (PACG) has yet to be elucidated. Ocular characteristics related to… Expand
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2008
2008
Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization
Background: Nanophthalmos is a genetic disorder characterized by very small, hyperopic eyes that are without gross structural… Expand
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Highly Cited
2005
Highly Cited
2005
Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.
Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in… Expand
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2001
2001
Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein.
  • Masuko Katoh
  • Biochemical and biophysical research…
  • 2001
    • Corpus ID: 11719567
The Frizzled-type cysteine-rich domain (CRD) is a binding motif for soluble-type glycoprotein WNTs, which play key roles in… Expand
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