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MFRP gene
Known as:
MFRP
, C1QTNF5
, rd6
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National Institutes of Health
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Related topics
1 relation
C1QTNF5 gene
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56
B. Almoallem
,
G. Arno
,
+14 authors
E. de Baere
Scientific Reports
2020
Corpus ID: 210938436
This study aimed to genetically and clinically characterize a unique cohort of 25 individuals from 21 unrelated families with…
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2019
2019
Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study.
Congcong Guo
,
Zhenni Zhao
,
+12 authors
Z. Fan
Investigative Ophthalmology and Visual Science
2019
Corpus ID: 195786653
Purpose Nanophthalmos is a rare genetic disorder commonly characterized by a short axial length (AL) and severe hyperopia…
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2019
2019
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy.
Anil Chekuri
,
Bhubanananda Sahu
,
+11 authors
R. Ayyagari
Human Gene Therapy
2019
Corpus ID: 54167881
Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa…
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2016
2016
Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages
Ross Collery
,
P. Volberding
,
J. R. Bostrom
,
B. Link
,
J. Besharse
Investigative Ophthalmology and Visual Science
2016
Corpus ID: 14265717
Purpose Mutations in membrane frizzled-related protein (MFRP) are associated with nanophthalmia, hyperopia, foveoschisis…
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Review
2013
Review
2013
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
Haihong Shi
,
R. Zhu
,
+5 authors
H. Guan
Molecular Vision
2013
Corpus ID: 15076118
Purpose Primary angle closure (PAC) is the early stage of primary angle closure glaucoma (PACG). It is believed that the…
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2010
2010
STUDY ON CHOLESTEROL LOWERING COMPOUNDS IN RED YEAST RICE PREPARED FROM THAI GLUTINOUS RICE
Em-on Chairote
,
S. Lumyong
,
G. Chairote
2010
Corpus ID: 88646377
Red yeast rice which is a product of solid fermentation was prepared from several kinds of Thai glutinous rice (Oryza sativa L…
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Highly Cited
2008
Highly Cited
2008
Developmental Basis of Nanophthalmos: MFRP Is Required for both Prenatal Ocular Growth and Postnatal Emmetropization
O. Sundin
,
S. Dharmaraj
,
+6 authors
G. Lutty
Ophthalmic Genetics
2008
Corpus ID: 23071239
Background: Nanophthalmos is a genetic disorder characterized by very small, hyperopic eyes that are without gross structural…
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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
T. Aung
,
M. Lim
,
+6 authors
E. Vithana
Molecular Vision
2008
Corpus ID: 17798456
Purpose The genetic basis of primary angle closure glaucoma (PACG) has yet to be elucidated. Ocular characteristics related to…
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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.
O. Sundin
,
G. Leppert
,
+11 authors
E. Weinberg
Proceedings of the National Academy of Sciences…
2005
Corpus ID: 18364820
Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia (farsightedness), with refractive error in…
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Highly Cited
2001
Highly Cited
2001
Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein.
M. 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…
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