Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
Abstract
The autosomal recessive mouse mutation retinal degeneration 6 (rd6) causes small, white retinal spots and progressive photoreceptor degeneration similar to that observed in human flecked retinal diseases. Using a positional cloning approach, we determined that rd6 mice carry a splice donor mutation in the mouse homolog of the human membrane-type frizzled-related protein (Mfrp) gene that results in the skipping of exon 4. We found that mRNA of Mfrp is predominantly expressed in the eye, and at a lower level in the brain. To determine where in the eye Mfrp is expressed, in situ hybridization was done and showed that Mfrp is expressed specifically in the retinal pigment epithelium (RPE) and ciliary epithelium of the eye. The deduced amino acid sequence of MFRP contains a region with similarities to the cysteine-rich domain (CRD) of frizzled, a gene originally found in Drosophila that controls tissue polarity. The CRD is essential for Wnt binding and signaling. Wnt signaling has been shown to be involved in the control of gene expression, cell adhesion, planar polarity, proliferation and apoptosis. We also observed the localization of Wnt family proteins in the apical membrane of the RPE. Our results provide genetic evidence for an involvement of the Mfrp gene expressed by RPE in the degeneration of photoreceptors.
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Abnormal Wnt/frizzled signaling in the RPE may be responsible for photoreceptor degeneration.
“abnormal Wnt/frizzled signaling in the RPE may be responsible for photoreceptor degeneration”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
Aberrations in the Wnt/frizzled signaling pathway have been implicated in photoreceptor degeneration in retinitis pigmentosa patients.
“Aberrations in the Wnt/frizzled signaling pathway have been implicated in photoreceptor degeneration in retinitis pigmentosa patients”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
The photoreceptor layer in Mfrprd6 mice degenerates to 33% of its original thickness by 4.5 months of age, 15% of normal by 7 months of age, and becomes 1 cell layer thick by 24 months of age.
“The photoreceptor layer degenerates to 33% of its original thickness by 4.5 months of age, 15% of normal by 7 months of age, and becomes 1 cell layer thick by 24 months of age”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
Mfrp has strong homology to the cysteine-rich domain of frizzled, a protein that is an important member of the Wnt family of proteins.
“has strong homology to the cysteine-rich domain of frizzled, a protein that is an important member of the Wnt family of proteins”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
Mfrp is expressed at high levels exclusively in the RPE and ciliary epithelium and not the neural retina.
“Mfrp, expressed at high levels exclusively in the RPE and ciliary epithelium and not the neural retina”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
A splice-donor mutation with the loss of an exon in a gene encoding membrane-type frizzled protein (Mfrp) was identified in the rd6 mouse.
“A splice-donor mutation with the loss of an exon in a gene encoding membrane-type frizzled protein (Mfrp) was identified in the rd6 mouse”
From Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD) (2010) · cites this paper as Kameya et al., 2002
Cites
Thompson, J. D., Higgins, D. G., & Gibson, T. J. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.22.4673 · Cited by 64,617 · see citing works
A new member of the frizzled family from Drosophila functions as a Wingless receptor
Bhanot, P., van den Brink, M. R. M., Samos, C. H., Hsieh, J.-C., Wang, Y., Macke, J. P., Andrew, D. J., Nathans, J., & Nusse, R. (1996) · Nature · doi:10.1038/382225a0 · Cited by 1,504 · see citing works
SPLICING OF MESSENGER RNA PRECURSORS
Padgett, R. A., Grabowski, P. J., Konarska, M. M., Seiler, S., & Sharp, P. A. (1986) · Annual Review of Biochemistry · doi:10.1146/annurev.bi.55.070186.005351 · Cited by 1,224 · see citing works
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
D'Cruz, P. M. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.645 · Cited by 869 · see citing works
Splicing of Messenger RNA Precursors
Sharp, P. A., Hardy, S. F., & Padgett, R. A. (1984) · Elsevier eBooks · doi:10.1016/b978-0-12-284650-2.50023-7 · Cited by 864 · see citing works
Rickman, C. B., Li, T., Danciger, M., Baxter, L. C., Applebury, M., & Farber, D. B. (1990) · Nature · doi:10.1038/347677a0 · Cited by 852 · see citing works
A type VII myosin encoded by the mouse deafness gene shaker-1
Gibson, F., Walsh, J. C., Mburu, P., Varela, A., Brown, K. A., Antonio, M., Beisel, K. W., Steel, K. P., & Brown, S. D. M. (1995) · Nature · doi:10.1038/374062a0 · Cited by 682 · see citing works
Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., & Vollrath, D. (2000) · Nature Genetics · doi:10.1038/81555 · Cited by 679 · see citing works
McLaughlin, M. E., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1993) · Nature Genetics · doi:10.1038/ng0693-130 · Cited by 594 · see citing works
Rattner, A., Hsieh, J.-C., Smallwood, P. M., Gilbert, D. J., Copeland, N. G., Jenkins, N. A., & Nathans, J. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.7.2859 · Cited by 574 · see citing works
The Classical Complement Pathway: Activation and Regulation of the First Complement Component
Cooper, N. R. (1985) · Advances in immunology · doi:10.1016/s0065-2776(08)60340-5 · Cited by 510 · see citing works
Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
Kajiwara, K., Hahn, L. B., Mukai, S., Travis, G. H., Berson, E. L., & Dryja, T. P. (1991) · Nature · doi:10.1038/354480a0 · Cited by 470 · see citing works
Weil, D., Küssel‐Andermann, P., Blanchard, S., Levy, G. G., Lévi-Acobas, F., Drira, M., Ayadi, H., & Petit, C. (1997) · Nature Genetics · doi:10.1038/ng0697-191 · Cited by 426 · see citing works
Üren, A., Reichsman, F., Anest, V., Taylor, W. G., Muraiso, K., Bottaro, D. P., Cumberledge, S., & Rubin, J. S. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.275.6.4374 · Cited by 408 · see citing works
Travis, G. H., Brennan, M. B., Danielson, P. E., Kozak, C. A., & Sutcliffe, J. G. (1989) · Nature · doi:10.1038/338070a0 · Cited by 400 · see citing works
A three-base-pair deletion in the peripherin–RDS gene in one form of retinitis pigmentosa
Farrar, G. J., Kenna, P. F., Jordan, S. A., Kumar‐Singh, R., Humphries, M. M., Sharp, E. M., Sheils, D. M., & Humphries, P. (1991) · Nature · doi:10.1038/354478a0 · Cited by 387 · see citing works
Wittbrodt, J., Meyer, A., & Schartl, M. (1998) · BioEssays · doi:10.1002/(sici)1521-1878(199806)20:6 · Cited by 283 · see citing works
An imprinted, mammalian bicistronic transcript encodes two independent proteins
Gray, T. A., Saitoh, S., & Nicholls, R. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.10.5616 · Cited by 189 · see citing works
The genetic control of tissue polarity in Drosophila
Adler, P. N. (1992) · BioEssays · doi:10.1002/bies.950141103 · Cited by 177 · see citing works
Lee, S. J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.10.4250 · Cited by 163 · see citing works
Walker, W. H., Girardet, C., & Habener, J. F. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.33.20219 · Cited by 129 · see citing works
The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases
Xu, Y. K., & Nusse, R. (1998) · Current Biology · doi:10.1016/s0960-9822(98)70262-3 · Cited by 129 · see citing works
Secreted Frizzled-related proteins can regulate metanephric development
Yoshino, K., Rubin, J. S., Higinbotham, K. G., Üren, A., Anest, V., Plisov, S. Y., & Perantoni, A. O. (2001) · Mechanisms of Development · doi:10.1016/s0925-4773(01)00282-9 · Cited by 118 · see citing works
Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency
Reiss, J., Cohen, N., Dorche, C., Mandel, H., Mendel, R. R., Stallmeyer, B., Zabot, M. T., & Dierks, T. (1998) · Nature Genetics · doi:10.1038/1706 · Cited by 114 · see citing works
New Mouse Primary Retinal Degeneration (rd-3)
Chang, B., Heckenlively, J. R., Hawes, N. L., & Roderick, T. H. (1993) · Genomics · doi:10.1006/geno.1993.1138 · Cited by 112 · see citing works
Chang, J. T., Esumi, N., Moore, K. B., Li, Y., Zhang, S., Chew, C. E., Goodman, B., Rattner, A., Moody, S. A., Stetten, G., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.4.575 · Cited by 110 · see citing works
Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens.
Hawes, N. L., Chang, B., Hageman, G. S., Nusinowitz, S., Nishina, P. M., Schneider, B. S., Smith, R. S., Roderick, T. H., Davisson, M. T., & Heckenlively, J. R. (2000) · PubMed · Cited by 109 · see citing works
Heckenlively, J. R., Chang, B., Erway, L. C., Peng, C., Hawes, N. L., Hageman, G. S., & Roderick, T. H. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.24.11100 · Cited by 106 · see citing works
Szabó, G., Katarova, Z., & Greenspan, R. J. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.11.7535 · Cited by 96 · see citing works
Katoh, M. (2001) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.2001.4551 · Cited by 88 · see citing works
Molecular Cloning of Frizzled-10, a Novel Member of the Frizzled Gene Family
Koike, J., Takagi, A., Miwa, T., Hirai, M., Terada, M., & Katoh, M. (1999) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1999.1161 · Cited by 81 · see citing works
Translation of the human LINE-1 element, L1Hs.
McMillan, J., & Singer, M. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.24.11533 · Cited by 77 · see citing works
Thielens, N. M., Aude‐Garcia, C., Lacroix, M., Gagnon, J., & Arlaud, G. J. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)77326-2 · Cited by 70 · see citing works
Aaberg, T. M. (1986) · PubMed · Cited by 68 · see citing works
Molecular Genetic Studies of Wnt Signaling in the Mouse
Uusitalo, M., Heikkilä, M. M., & Vainio, S. J. (1999) · Experimental Cell Research · doi:10.1006/excr.1999.4710 · Cited by 61 · see citing works
Retinal degeneration in motor neuron degeneration: a mouse model of ceroid lipofuscinosis.
Chang, B., Bronson, R. T., Hawes, N. L., Roderick, T. H., Peng, C., Hageman, G. S., & Heckenlively, J. R. (1994) · PubMed · Cited by 59 · see citing works
Modulated expression of secreted Frizzledrelated proteins in human retinal degeneration
Jones, S. E., Jomary, C., Grist, J., Stewart, H. J., & Neal, M. J. (2000) · Neuroreport · doi:10.1097/00001756-200012180-00012 · Cited by 51 · see citing works
Altered expression of secreted frizzled-related protein-2 in retinitis pigmentosa retinas.
Jones, S., Jomary, C., Grist, J., Stewart, H. J., & Neal, M. J. (2000) · PubMed · Cited by 40 · see citing works
Screening for mouse retinal degenerations
Heckenlively, J. R., Winston, J. V., & Roderick, T. H. (1989) · Documenta Ophthalmologica · doi:10.1007/bf00170972 · Cited by 32 · see citing works
Szabó, G., Katarova, Z., & Greenspan, R. J. (1994) · Molecular and Cellular Biology · doi:10.1128/mcb.14.11.7535-7545.1994 · Cited by 22 · see citing works
Sakuma-Takagi, M., Tohyama, Y., Kasama‐Yoshida, H., Sakagami, H., Kondo, H., & Kurihara, T. (1999) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1999.1462 · Cited by 6 · see citing works
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Sorted by citations
Chong, Z. Z., Li, F., & Maiese, K. (2005) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2005.02.004 · Cited by 536 · see citing works
An, M., Raguram, A., Du, S. W., Banskota, S., Davis, J. R., Newby, G. A., Chen, P., Palczewski, K., & Liu, D. R. (2024) · Nature Biotechnology · doi:10.1038/s41587-023-02078-y · Cited by 275 · see citing works
Hayward, C., Shu, X., Cideciyan, A. V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A. H., et al. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg289 · Cited by 191 · see citing works
Extreme hyperopia is the result of null mutations in MFRP , which encodes a Frizzled-related protein
Sundin, O. H., Leppert, G. S., Silva, E. D., Yang, J.-M., Dharmaraj, S., Maumenee, I. H., Santos, L. C., Parsa, C. F., Traboulsi, E. I., Broman, K. W., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501451102 · Cited by 191 · see citing works
The Wnt signaling pathway: Aging gracefully as a protectionist?
Maiese, K., Li, F., Chong, Z. Z., & Shang, Y. (2008) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2008.01.004 · Cited by 170 · see citing works
Wnt signaling in eye organogenesis
Fuhrmann, S. (2008) · Organogenesis · doi:10.4161/org.4.2.5850 · Cited by 165 · see citing works
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD)
Ramkumar, H. L., Zhang, J., & Chan, C.-C. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.02.002 · Cited by 163 · see citing works
Winding through the WNT pathway during cellular development and demise.
Li, F., Chong, Z. Z., & Maiese, K. (2006) · PubMed · doi:10.14670/hh-21.103 · Cited by 154 · see citing works
Pacione, L. R., Szego, M. J., Ikeda, S., Nishina, P. M., & McInnes, R. R. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.041002.131416 · Cited by 142 · see citing works
Late-Onset Macular Degeneration and Long Anterior Lens Zonules Result from a CTRP5 Gene Mutation
Ayyagari, R., Mandal, M. N. A., Karoukis, A. J., Chen, L., McLaren, N. C., Lichter, M., Wong, D. T., Hitchcock, P. F., Caruso, R. C., Moroi, S. E., et al. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.05-0159 · Cited by 130 · see citing works
Seiler, C., Finger‐Baier, K., Rinner, O., Makhankov, Y. V., Schwarz, H., Neuhauss, S. C. F., & Nicolson, T. A. (2005) · Development · doi:10.1242/dev.01591 · Cited by 129 · see citing works
Epithelial phenotype and the RPE: Is the answer blowing in the Wnt?
Burke, J. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.08.002 · Cited by 124 · see citing works
Ayala-Ramírez, R., Graue‐Wiechers, F., Robredo, V., Amato-Almanza, M., Horta-Diez, I., & Zenteno, J. C. (2006) · PubMed · Cited by 119 · see citing works
Nanophthalmos: A Review of the Clinical Spectrum and Genetics
Carricondo, P. C., Andrade, T. D. S., Prasov, L., Ayres, B. M., & Moroi, S. E. (2018) · Journal of Ophthalmology · doi:10.1155/2018/2735465 · Cited by 116 · see citing works
Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia
Plaisancié, J., Ceroni, F., Holt, R., Seco, C. Z., Calvas, P., Chassaing, N., & Ragge, N. (2019) · Human Genetics · doi:10.1007/s00439-019-01977-y · Cited by 110 · see citing works
Mouse models of age-related macular degeneration
Elizabeth Rakoczy, P., Yu, M. J. T., Nusinowitz, S., Chang, B., & Heckenlively, J. R. (2006) · Experimental Eye Research · doi:10.1016/j.exer.2005.10.012 · Cited by 107 · see citing works
Alternative splicing and retinal degeneration
Liu, M. M., & Zack, D. J. (2013) · Clinical Genetics · doi:10.1111/cge.12181 · Cited by 105 · see citing works
Crespí, J., Buil, J. A., Bassaganyas, F., Vela, J. I., Díaz‐Cascajosa, J., Ayala-Ramírez, R., & Zenteno, J. C. (2008) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2008.04.029 · Cited by 104 · see citing works
Genetic factors of age-related macular degeneration
Tuo, J., Bojanowski, C. M., & Chan, C. (2004) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2004.02.001 · Cited by 100 · see citing works
The CRB1 and adherens junction complex proteins in retinal development and maintenance
Alves, C. H., Pellissier, L. P., & Wijnholds, J. (2014) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2014.01.001 · Cited by 95 · see citing works
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Collin, G. B., Gogna, N., Chang, B., Damkham, N., Pinkney, J., Hyde, L. F., Stone, L. V., Naggert, J. Κ., Nishina, P. M., & Krebs, M. P. (2020) · Cells · doi:10.3390/cells9040931 · Cited by 94 · see citing works
Chong, Z. Z., Li, F., & Maiese, K. (2007) · Cellular Signalling · doi:10.1016/j.cellsig.2006.12.009 · Cited by 95 · see citing works
Vital Elements of the Wnt-Frizzled Signaling Pathway in the Nervous System
Li, F., Chong, Z. Z., & Maiese, K. (2005) · Current Neurovascular Research · doi:10.2174/156720205774322557 · Cited by 91 · see citing works
Holáň, V., Palacká, K., & Heřmánková, B. (2021) · Cells · doi:10.3390/cells10030588 · Cited by 88 · see citing works
WNT/Frizzled signaling in eye development and disease
de Iongh Robb, U. (2006) · Frontiers in bioscience · doi:10.2741/1982 · Cited by 86 · see citing works
Mouse mutants as models for congenital retinal disorders
Dalke, C., & Graw, J. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.06.004 · Cited by 85 · see citing works
Li, Y., Wu, W.-H., Hsu, C.-W., Nguyen, H. V., Tsai, Y., Chan, L., Nagasaki, T., Maumenee, I. H., Yannuzzi, L. A., Hoang, Q. V., et al. (2014) · Molecular Therapy · doi:10.1038/mt.2014.100 · Cited by 84 · see citing works
Jensen, A. M., & Westerfield, M. (2004) · Current Biology · doi:10.1016/j.cub.2004.04.006 · Cited by 82 · see citing works
Gene therapy for retinal disease
McClements, M. E., & MacLaren, R. E. (2013) · Translational Research · doi:10.1016/j.trsl.2012.12.007 · Cited by 80 · see citing works
Naturally occurring animal models with outer retina phenotypes
Baehr, W., & Frederick, J. M. (2009) · Vision Research · doi:10.1016/j.visres.2009.04.008 · Cited by 79 · see citing works
Mandal, M. N. A., Vasireddy, V., Reddy, G. B., Wang, X., Moroi, S. E., Pattnaik, B. R., Hughes, B. A., Heckenlively, J. R., Hitchcock, P. F., Jablonski, M. M., et al. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0312 · Cited by 78 · see citing works
Spatial and Temporal Expression of MFRP and Its Interaction with CTRP5
Mandal, M. N. A., Vasireddy, V., Jablonski, M. M., Wang, X., Heckenlively, J. R., Hughes, B. A., Reddy, G. B., & Ayyagari, R. (2006) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-0449 · Cited by 78 · see citing works
Garnai, S. J., Brinkmeier, M. L., Emery, B., Alemán, T. S., Pyle, L. C., Veleva-Rotse, B. O., Sisk, R. A., Rozsa, F. W., Ozel, A. B., Li, J. Z., et al. (2019) · PLoS Genetics · doi:10.1371/journal.pgen.1008130 · Cited by 76 · see citing works
Mouse models of ocular diseases
Chang, B., Hawes, N. L., Hurd, R. E., Wang, J., Howell, D., Davisson, M. T., Roderick, T. H., Nusinowitz, S., & Heckenlively, J. R. (2005) · Visual Neuroscience · doi:10.1017/s0952523805225075 · Cited by 75 · see citing works
Optogenetic Gene Therapy for the Degenerate Retina: Recent Advances
McClements, M. E., Staurenghi, F., MacLaren, R. E., & Cehajic‐Kapetanovic, J. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.570909 · Cited by 70 · see citing works
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration
Chavali, V. R. M., Khan, N. W., Cukras, C. A., Bartsch, D., Jablonski, M. M., & Ayyagari, R. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr080 · Cited by 67 · see citing works
Collin, G. B., Hubmacher, D., Charette, J. R., Hicks, W. L., Stone, L. V., Yu, M., Naggert, J. Κ., Krebs, M. P., Peachey, N. S., Apte, S., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv399 · Cited by 59 · see citing works
The Wnt Signaling Pathway in Retinal Degenerations
Hackam, A. S. (2005) · IUBMB Life · doi:10.1080/15216540500137586 · Cited by 58 · see citing works
Yu, J., He, S., Friedman, J. S., Akimoto, M., Ghosh, D., Mears, A. J., Hicks, D., & Swaroop, A. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m408223200 · Cited by 58 · see citing works
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5
Shu, X., Tulloch, B., Lennon, A., Vlachantoni, D., Zhou, X., Hayward, C., & Wright, A. F. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl091 · Cited by 57 · see citing works
The essential role of docosahexaenoic acid and its derivatives for retinal integrity
Swinkels, D., & Baes, M. I. (2023) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2023.108440 · Cited by 56 · see citing works
Won, J., Smith, R. S., Peachey, N. S., WU, J., Hicks, W. L., Naggert, J. Κ., & Nishina, P. M. (2008) · Visual Neuroscience · doi:10.1017/s0952523808080723 · Cited by 53 · see citing works
Wnt-Signaling in Retinal Development and Disease
Lad, E. M., Cheshier, S. H., & Kalani, M. Y. S. (2008) · Stem Cells and Development · doi:10.1089/scd.2008.0169 · Cited by 53 · see citing works
174delG Mutation in Mouse MFRP Causes Photoreceptor Degeneration and RPE Atrophy
Fogerty, J., & Besharse, J. C. (2011) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.11-8112 · Cited by 50 · see citing works
Kim, E. J., Grant, G. R., Bowman, A. S., Haider, N., Gudiseva, H. V., & Chavali, V. R. M. (2018) · Scientific Reports · doi:10.1038/s41598-018-21104-7 · Cited by 50 · see citing works
Characterization of Wnt Signaling during Photoreceptor Degeneration
Yi, H., Nakamura, R. E. I., Mohamed, O. A., Dufort, D., & Hackam, A. S. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.07-0097 · Cited by 48 · see citing works
Mutations in a novel serine protease PRSS56 in families with nanophthalmos.
Orr, A. C., Dubé, M., Zenteno, J. C., Jiang, H., Asselin, G., Evans, S. C., Caqueret, A., Lakosha, H., Létourneau, L., Marcadier, J. L., et al. (2011) · PubMed Central · Cited by 47 · see citing works
Gene Therapy Restores Mfrp and Corrects Axial Eye Length
Velez, G., Tsang, S. H., Tsai, Y.-T., Hsu, C., Gore, A. M., Abdelhakim, A. H., Mahajan, M., Silverman, R. H., Sparrow, J. R., Bassuk, A. G., et al. (2017) · Scientific Reports · doi:10.1038/s41598-017-16275-8 · Cited by 45 · see citing works
ADIPOR1 is essential for vision and its RPE expression is lost in the Mfrprd6 mouse
Sluch, V. M., Banks, A., Li, H., Crowley, M. A., Davis, V., Xiang, C., Yang, J., Demirs, J. T., Vrouvlianis, J., Leehy, B. D., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-32579-9 · Cited by 46 · see citing works
Zenteno, J. C., Buentello‐Volante, B., Quiroz-Gonzalez, M. A., & Quiroz-Reyes, M. A. (2009) · PubMed Central · Cited by 47 · see citing works
Dinculescu, A., Estreicher, J., Zenteno, J. C., Alemán, T. S., Schwartz, S., Huang, W., Román, A. J., Sumaroka, A., Li, Q., Deng, W., et al. (2011) · Human Gene Therapy · doi:10.1089/hum.2011.169 · Cited by 43 · see citing works
Hadziahmetovic, M., Pajić, M., Grieco, S. F., Song, Y., Song, D., Li, Y., Cwanger, A., Iacovelli, J., Chu, S., Ying, G., et al. (2012) · Translational Vision Science & Technology · doi:10.1167/tvst.1.3.2 · Cited by 43 · see citing works
A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.
Mukhopadhyay, R., Sergouniotis, P. I., Mackay, D. S., Day, A. C., Wright, G., Devery, S. R., Leroy, B. P., Robson, A. G., Holder, G. E., Li, Z., et al. (2010) · PubMed Central · Cited by 43 · see citing works
Genetic Associations of Primary Angle-Closure Disease
Rong, S. S., Tang, F. Y., Chu, W. K., Ma, L., Yam, J. C. S., Tang, S. M., Li, J., Gu, H., Young, A. L., Tham, C. C. Y., et al. (2016) · Ophthalmology · doi:10.1016/j.ophtha.2015.12.027 · Cited by 40 · see citing works
Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages
Collery, R. F., Volberding, P. J., Bostrom, J. R., Link, B. A., & Besharse, J. C. (2016) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.16-19593 · Cited by 39 · see citing works
Ali, B. R., Jeffery, S., Patel, N., Tinworth, L., Meguid, N. A., Patton, M. A., & Afzal, A. R. (2007) · Human Genetics · doi:10.1007/s00439-007-0409-0 · Cited by 38 · see citing works
Paun, C. C., Pijl, B. J., Siemiatkowska, A. M., Collin, R. W. J., Cremers, F. P. M., Hoyng, C. B., & den Hollander, A. I. (2012) · PubMed Central · Cited by 38 · see citing works
Li, Y., Chan, L., Nguyen, H. V., & Tsang, S. H. (2015) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-17121-0_73 · Cited by 33 · see citing works
The Canonical Wnt Pathway Regulates Retinal Stem Cells/Progenitors in Concert with Notch Signaling
Das, A. V., Bhattacharya, S., Zhao, X., Hegde, G. V., Mallya, K. B., Eudy, J. D., & Ahmad, I. (2008) · Developmental Neuroscience · doi:10.1159/000178017 · Cited by 33 · see citing works
Cross, S. H., McKie, L., Hurd, T. W., Riley, S., Wills, J. C., Barnard, A. R., Young, F., MacLaren, R. E., & Jackson, I. J. (2020) · PLoS Genetics · doi:10.1371/journal.pgen.1008583 · Cited by 32 · see citing works
Kautzmann, M.-A. I., Gordon, W. C., Jun, B., Do, K. V., Matherne, B., Fang, Z., & Bazan, N. G. (2019) · The FASEB Journal · doi:10.1096/fj.201902359r · Cited by 30 · see citing works
Patient-Specific iPSC-Derived RPE for Modeling of Retinal Diseases
Nguyen, H. V., Li, Y., & Tsang, S. H. (2015) · Journal of Clinical Medicine · doi:10.3390/jcm4040567 · Cited by 29 · see citing works
Genotype–phenotype spectrum in isolated and syndromic nanophthalmos
Lang, E., Koller, S., Atac, D., Pfäffli, O. A., Hanson, J. V. M., Feil, S., Bähr, L., Bahr, A., Kottke, R., Joset, P., et al. (2020) · Acta Ophthalmologica · doi:10.1111/aos.14615 · Cited by 29 · see citing works
Lejkowska, R., Kawa, M. P., Pius‐Sadowska, E., Rogińska, D., Łuczkowska, K., Machaliński, B., & Machalińska, A. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20030777 · Cited by 29 · see citing works
Shi, H., Zhu, R., Hu, N., Shi, J., Zhang, J., Jiang, L., Jiang, H. F., & Guan, H. (2013) · Europe PMC (PubMed Central) · Cited by 28 · see citing works
The Mouse's Eye andMfrp: Not Quite Human
Sundin, O. H. (2005) · Ophthalmic Genetics · doi:10.1080/13816810500374359 · Cited by 28 · see citing works
Growth Factors and Neurotrophic Factors as Targets
Wordinger, R. J., & Clark, A. F. (2008) · Elsevier eBooks · doi:10.1016/b978-012370585-3.50007-8 · Cited by 27 · see citing works
Matías-Pérez, D., García‐Montaño, L. A., Cruz‐Aguilar, M., García-Montalvo, I. A., Nava-Valdéz, J., Barragán-Arévalo, T., Villanueva‐Mendoza, C., Villarroel, C. E., Guadarrama-Vallejo, C., la Cruz, R. A. V.-D., et al. (2018) · Journal of Human Genetics · doi:10.1038/s10038-018-0504-1 · Cited by 27 · see citing works
Bazan, N. G. (2020) · Journal of Lipid Research · doi:10.1194/jlr.tr120001137 · Cited by 26 · see citing works
Soundararajan, R., Won, J., Stearns, T. M., Charette, J. R., Hicks, W. L., Collin, G. B., Naggert, J. Κ., Krebs, M. P., & Nishina, P. M. (2014) · PLoS ONE · doi:10.1371/journal.pone.0110299 · Cited by 26 · see citing works
Evaluation of SFRP1 as a candidate for human retinal dystrophies.
García‐Hoyos, M., Cantalapiedra, D., Arroyo, C., Esteve, P., Rodríguez, J., Riveiro-Álvarez, R., Trujillo, M. J., Ramos, C., Bovolenta, P., & Ayuso, C. (2004) · PubMed · Cited by 23 · see citing works
Pluripotent Stem Cells to Model Degenerative Retinal Diseases: The RPE Perspective
Dalvi, S., Galloway, C. A., & Singh, R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-28471-8_1 · Cited by 20 · see citing works
Kumari, A., Ayala-Ramírez, R., Zenteno, J. C., Huffman, K., Šášik, R., Ayyagari, R., & Borooah, S. (2022) · Scientific Reports · doi:10.1038/s41598-022-19351-w · Cited by 19 · see citing works
Missense Mutations in the Human Nanophthalmos Gene TMEM98 Cause Retinal Defects in the Mouse
Cross, S. H., McKie, L., Keighren, M., West, K. M., Thaung, C., Davey, T., Soares, D. C., Sánchez‐Pulido, L., & Jackson, I. J. (2019) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.18-25954 · Cited by 19 · see citing works
Wang, I., Lin, S. C., Chiang, T., Chen, Z. T.-Y., Lin, L. L., Hung, P., & Shih, Y. (2008) · PubMed Central · Cited by 18 · see citing works
Neri, A., Leaci, R., Zenteno, J. C., Casubolo, C., Delfini, E., & Macaluso, C. (2012) · Europe PMC (PubMed Central) · Cited by 17 · see citing works
Shu, X., Luhmann, U. F. O., Alemán, T. S., Barker, S. E., Lennon, A., Tulloch, B., Chen, M., Xu, H., Jacobson, S. G., Ali, R. R., et al. (2011) · PLoS ONE · doi:10.1371/journal.pone.0027433 · Cited by 17 · see citing works
Matsushita, I., Kondo, H., & Tawara, A. (2012) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-012-0145-4 · Cited by 17 · see citing works
Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP -Associated Retinopathy
Chekuri, A. K., Sahu, B., Chavali, V. R. M., Voronchikhina, M., Soto‐Hermida, A., Suk, J. J., Alapati, A. N., Bartsch, D., Ayala-Ramírez, R., Zenteno, J. C., et al. (2018) · Human Gene Therapy · doi:10.1089/hum.2018.192 · Cited by 16 · see citing works
Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium
Dinculescu, A., Min, S.-H., Dyka, F. M., Deng, W., Stupay, R. M., Chiodo, V. A., Smith, W. C., & Hauswirth, W. W. (2015) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.15-17166 · Cited by 16 · see citing works
Sabrosa, N. A., Smith, H. B., & MacLaren, R. E. (2009) · Graefe s Archive for Clinical and Experimental Ophthalmology · doi:10.1007/s00417-008-1020-3 · Cited by 16 · see citing works
Chavali, V. R. M., Sommer, J. R., Petters, R. M., & Ayyagari, R. (2010) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.10-5543 · Cited by 15 · see citing works
Metlapally, R., Li, Y., Tran-Viet, K.-N., Bulusu, A., White, T., Ellis, J., Kao, D., & Young, T. L. (2008) · PubMed Central · Cited by 14 · see citing works
Tian, X., Zheng, Q., Xie, J., Zhou, Q., Liang, L., Xu, G., Chen, H., Ling, C., & Lu, D. (2023) · Molecular Therapy — Nucleic Acids · doi:10.1016/j.omtn.2023.05.001 · Cited by 12 · see citing works
Evaluation of MFRP as a candidate gene for high hyperopia.
Wang, P., Yang, Z., Li, S., Xiao, X., Guo, X., & Zhang, Q. (2009) · PubMed Central · Cited by 12 · see citing works
Gene Therapy in the Rd6 Mouse Model of Retinal Degeneration
Dinculescu, A., Min, S.-H., Deng, W., Li, Q., & Hauswirth, W. W. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-3209-8_89 · Cited by 12 · see citing works
Fogerty, J., & Besharse, J. C. (2014) · Advances in experimental medicine and biology · doi:10.1007/978-1-4614-3209-8_45 · Cited by 12 · see citing works
Godinho, G., Madeira, C., Grangeia, A., Cardoso, P., Silva, R., Brandão, E., Carneiro, Â. M., Falcão‐Reis, F., & Estrela‐Silva, S. (2020) · Ophthalmic Genetics · doi:10.1080/13816810.2020.1795888 · Cited by 11 · see citing works
Drinking hydrogen water improves photoreceptor structure and function in retinal degeneration 6 mice
Igarashi, T., Ohsawa, I., Kobayashi, M., Miyazaki, K., Igarashi, T., Kameya, S., Shiozawa, A. L., Ikeda, Y., Miyagawa, Y., Sakai, M., et al. (2022) · Scientific Reports · doi:10.1038/s41598-022-17903-8 · Cited by 10 · see citing works
Self-citationMiller, G. L., Somani, S., Nowaczyk, M. J. M., Feigenbaum, A. J., Davidson, R. G., Costa, T., & Levin, A. V. (2006) · Ophthalmic Genetics · doi:10.1080/13816810500481832 · Cited by 10 · see citing works
Genetic modifier loci of mouse Mfrprd6 identified by quantitative trait locus analysis
Won, J., Charette, J. R., Philip, V. M., Stearns, T. M., Zhang, W., Naggert, J. Κ., Krebs, M. P., & Nishina, P. M. (2013) · Experimental Eye Research · doi:10.1016/j.exer.2013.10.020 · Cited by 9 · see citing works
Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes
Gogna, N., Weatherly, S. M., Zhao, F., Collin, G. B., Pinkney, J., Stone, L. V., Naggert, J. Κ., Carter, G. W., & Nishina, P. M. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23031615 · Cited by 9 · see citing works
Clinical features of patients with mutations in genes for nanophthalmos
Li, X., Xiao, H., Su, Y., Xiao, X., Lin, S., Lin, S., Fang, L., Sun, W., Wang, P., Hejtmancik, J. F., et al. (2024) · British Journal of Ophthalmology · doi:10.1136/bjo-2023-324931 · Cited by 8 · see citing works
Kim, M. J., Lee, W., Park, E., & Park, S. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.05.049 · Cited by 8 · see citing works
Pauer, G. J. T., Xi, Q., Zhang, K., Traboulsi, E. I., & Hagstrom, S. A. (2005) · Ophthalmic Genetics · doi:10.1080/13816810500374425 · Cited by 8 · see citing works
Lord-Grignon, J., ́treault, N. T., Mears, A. J., Swaroop, A., & Bernier, G. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1350 · Cited by 8 · see citing works
Chang, B., Hawes, N. L., Davisson, M. T., & Heckenlively, J. R. (2007) · Humana Press eBooks · doi:10.1007/978-1-59745-186-4_8 · Cited by 7 · see citing works
Wang, Y., Becker, S., Finkelstein, S., Dyka, F. M., Liu, H., Eminhizer, M., Ying, H., Brush, R. S., Spencer, W. J., Arshavsky, V. Y., et al. (2024) · Communications Biology · doi:10.1038/s42003-024-06691-8 · Cited by 6 · see citing works
Su, X., Li, S., Zhang, Y., Tie, X., Feng, R., Guo, X., Qiao, X., & Wang, L. (2023) · American Journal Of Pathology · doi:10.1016/j.ajpath.2023.09.008 · Cited by 6 · see citing works
Myelin regulatory factor deficiency is associated with the retinal photoreceptor defects in mice
Yu, X., Sun, N., Yang, X., Zhao, Z., Zhang, J., Zhang, M., Zhang, D., Ge, J., & Fan, Z. (2021) · Visual Neuroscience · doi:10.1017/s0952523821000043 · Cited by 6 · see citing works
- Authors
- Kameya, S.
- Affiliations
- Jackson Laboratory (US)
- Corresponding author
- Kameya, S.
- ORCID
- Kameya, S.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-08-01
- Volume
- 11
- Issue
- 16
- Pages
- 1879-1886
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2111852904
- Cited by
- 134
- References
- 41
- Citations by year
- 2026: 3 · 2025: 8 · 2024: 4 · 2023: 7 · 2022: 6 · 2021: 4 · 2020: 8 · 2019: 7 · 2018: 6 · 2017: 4 · 2016: 2 · 2015: 4 · 2014: 5 · 2013: 4 · 2012: 6
- FWCI
- 2.09
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ey012093-03)
- National Eye Institute (EY 11996, EY12093, R01EY011996)
- National Cancer Institute (#CA34196, P30CA034196)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- MFRP, photoreceptor degeneration, retinal pigment epithelium, ciliary epithelium, Wnt signaling, cysteine-rich domain, splice donor mutation, exon skipping, positional cloning
- MeSH terms
- Frizzled-Related Proteins, Amino Acid Sequence, Animals, Base Sequence, Chromosome Mapping, Disease Models, Animal, DNA, Eye Proteins, Humans, Membrane Proteins, Mice, Mutant Strains, Molecular Sequence Data, Mutation, Retinal Degeneration, Gene Expression, Sequence Homology, Amino Acid, In Situ Hybridization, Mice
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