ArticleScientific reports2017
Gene Therapy Restores Mfrp and Corrects Axial Eye Length.
Open access · goldAbstract read
In one paragraph
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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0cells of the map it votes in
26citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
What it found
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Who cites it
26 citing papers in PubMed, 50 citations in OpenAlex.
- Genetic Spectrum and Genotype-Phenotype Correlations in a Chinese Cohort With Nanophthalmos With Secondary Angle-Closure Glaucoma.Investigative ophthalmology & visual science · 2025Article
- MFRP is a molecular hub that organizes the apical membrane of RPE cells by engaging in interactions with specific proteins and lipids.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Temporal Regulation of Myopia and Inflammation-Associated Pathways in the Interphotoreceptor Retinoid-Binding Protein Knockout Mouse Model.Current eye research · 2025Article
- Identification of coexisting Mfrprd6 and Pde6brd10 mutations causing spontaneous retinal detachment in commercially available rd6 mice.PloS one · 2025Article
- Retinal glia in myopia: current understanding and future directions.Frontiers in cell and developmental biology · 2024Review
- Improved gene therapy for MFRP deficiency-mediated retinal degeneration by knocking down endogenous bicistronicMolecular therapy. Nucleic acids · 2023Article
- Drinking hydrogen water improves photoreceptor structure and function in retinal degeneration 6 mice.Scientific reports · 2022Article
- Genetic Interaction betweenInternational journal of molecular sciences · 2022Article
- Ablation of mpeg+ Macrophages Exacerbates mfrp-Related Hyperopia.Investigative ophthalmology & visual science · 2021Article
- Genetic Variants Associated With Human Eye Size Are Distinct From Those Conferring Susceptibility to Myopia.Investigative ophthalmology & visual science · 2021Article
- Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.Genes · 2021Review
- Identification of MFRP and the secreted serine proteases PRSS56 and ADAMTS19 as part of a molecular network involved in ocular growth regulation.PLoS genetics · 2021Article
- Nanophthalmos-Associated MYRF Gene Mutation Causes Ciliary Zonule Defects in Mice.Investigative ophthalmology & visual science · 2021Article
- PKM2 ablation enhanced retinal function and survival in a preclinical model of retinitis pigmentosa.Mammalian genome : official journal of the International Mammalian Genome Society · 2020Article
- The nanophthalmos protein TMEM98 inhibits MYRF self-cleavage and is required for eye size specification.PLoS genetics · 2020Article
- The Pathogenesis and Treatment of Complications in Nanophthalmos.Journal of ophthalmology · 2020Review
- Membrane-type frizzled-related protein regulates lipidome and transcription for photoreceptor function.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- CAPN5 genetic inactivation phenotype supports therapeutic inhibition trials.Human mutation · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.Human genetics · 2019Review
- Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse.Investigative ophthalmology & visual science · 2019Article
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 1 country.
Gabriel VelezOmics Laboratory, Stanford University, Palo Alto, CA, USA.
Stephen H TsangBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA. sht2@columbia.edu.
Yi-Ting TsaiBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
Chun-Wei HsuBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
Anuradha GoreOmics Laboratory, Stanford University, Palo Alto, CA, USA.
Aliaa H AbdelhakimBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
MaryAnn MahajanOmics Laboratory, Stanford University, Palo Alto, CA, USA.
Ronald H SilvermanBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
Janet R SparrowBernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology and Cell Biology, Institute of Human Nutrition, Columbia University, New York, NY, USA.
Alexander G BassukDepartment of Pediatrics, University of Iowa, Iowa City, IA, USA. alexander-bassuk@uiowa.edu.
Vinit B MahajanOmics Laboratory, Stanford University, Palo Alto, CA, USA. vinit.mahajan@stanford.edu.
Columbia University · USNewYork–Presbyterian Hospital · USStanford University · USSmith-Kettlewell Eye Research Institute · USUniversity of Iowa · US
Funding
Tumor Biology and Microenvironment ProgramP30CA013696 · NCI · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI Parisa Tehranifar · 1985 to 2026
$115.3MMEDICAL SCIENTIST TRAINING PROGRAMT32GM007337 · NIGMS · UNIVERSITY OF IOWA · PI GEYER, PAMELA K., LENTZ, STEVEN R · 1985 to 2020
$15.9MInstrumentation, Fabrication, and Design CoreP30EY019007 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Xin Zhang · 2010 to 2026
$12.9MStanford Vision Research CoreP30EY026877 · NEI · STANFORD UNIVERSITY · PI Jeffrey L Goldberg · 2017 to 2026
$8.0MToward mechanism- and gene-based therapies for retinal degenerationR01EY018213 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2008 to 2026
$6.6MGene Silencing and Gene Editing in PhototransductionR01EY024698 · NEI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Stephen H Tsang · 2015 to 2026
$4.7MStructure and Function of Calpain-5R01EY024665 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2019
$1.9MMechanistic Studies on Regenerative Medicine Approaches to Childhood BlindnessR01EY026682 · NEI · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2016 to 2019
$1.6MMechanism-based therapies for photoreceptor degenerationR01EY025225 · NEI · UNIVERSITY OF IOWA · PI MAHAJAN, VINIT B · 2015 to 2018
$1.3MEvaluating GWAS AMD Candidate Loci by Gene Editing in Human iPS CellsR21AG050437 · NIA · UNIVERSITY OF IOWA · PI BASSUK, ALEXANDER G, MAHAJAN, VINIT B · 2015 to 2016
$431kNCI NIH HHS P30 CA013696NEI NIH HHS P30 EY019007NEI NIH HHS P30 EY026877NEI NIH HHS R01 EY018213NEI NIH HHS R01 EY024665NEI NIH HHS R01 EY024698NEI NIH HHS R01 EY025225NEI NIH HHS R01 EY026682NIA NIH HHS R21 AG050437NIGMS NIH HHS T32 GM007337
Abstract
Hyperopia (farsightedness) is a common and significant cause of visual impairment, and extreme hyperopia (nanophthalmos) is a consequence of loss-of-function MFRP mutations. MFRP deficiency causes abnormal eye growth along the visual axis and significant visual comorbidities, such as angle closure glaucoma, cystic macular edema, and exudative retinal detachment. The Mfrp
Indexed as
AdultAnimalsAxial Length, EyeChild, PreschoolDependovirusEye ProteinsFemaleFrizzled-Related ProteinsGenetic TherapyHumansMaleMembrane ProteinsMiceMiddle AgedRetinal DegenerationRetinal Pigment EpitheliumEye ProteinsFrizzled-Related ProteinsMembrane ProteinsMfrp protein, mouse
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.