Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Abstract
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration. We screened the human orthologue, MERTK, located at 2q14.1 (ref. 10), in 328 DNA samples from individuals with various retinal dystrophies and found three mutations in three individuals with retinitis pigmentosa (RP). Our findings are the first conclusive evidence implicating the RPE phagocytosis pathway in human retinal disease.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Engagement of the αvβ5 integrin initiates a signaling cascade that triggers OS ingestion, predominantly mediated by MERTK, which is present in the RPE apical membrane.
“Engagement of the αvβ5 integrin initiates a signaling cascade that triggers OS ingestion, predominantly mediated by MERTK (Gal et al., 2000), a member of the Tyro-Axl-Mer (TAM) ingestion receptor family, that is present in the RPE apical membrane (Prasad et al., 2006).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Gal et al., 2000
Secondary effects on the expression of receptors involved in POS binding and phagocytosis due to the deletion of Atg5 were not observed in Atg5ΔRPE RPE cells compared to control.
“Secondary effects on the expression of receptors involved in POS binding and phagocytosis (Gal et al., 2000; Nandrot et al., 2007; Nandrot et al., 2004) due to the deletion of Atg5 were not observed in Atg5ΔRPE RPE cells compared to control (Figure S1).”
From Noncanonical autophagy promotes the visual cycle (2013) · cites this paper as Gal et al., 2000
Cites
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
INHERITED RETINAL DYSTROPHY IN THE RAT
Dowling, J. E., & Sidman, R. L. (1962) · The Journal of Cell Biology · doi:10.1083/jcb.14.1.73 · Cited by 804 · see citing works
Photoreceptor degeneration in inherited retinal dystrophy delayed by basic fibroblast growth factor
Faktorovich, E. G., Steinberg, R. H., Yasumura, D., Matthes, M. T., & LaVail, M. M. (1990) · Nature · doi:10.1038/347083a0 · Cited by 710 · see citing works
THE ROLE OF THE PIGMENT EPITHELIUM IN THE ETIOLOGY OF INHERITED RETINAL DYSTROPHY IN THE RAT
Bok, D., & Hall, M. O. (1971) · The Journal of Cell Biology · doi:10.1083/jcb.49.3.664 · Cited by 537 · see citing works
Mullen, R. J., & LaVail, M. M. (1976) · Science · doi:10.1126/science.1265483 · Cited by 530 · see citing works
DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene
Nickerson, D. A., Taylor, S. L., Weiss, K. M., Clark, A. G., Hutchinson, R. G., Stengård, J., Salomaa, V. V., Vartiainen, E. A., Boerwinkle, E., & Sing, C. F. (1998) · Nature Genetics · doi:10.1038/907 · Cited by 475 · see citing works
Li, L., & Turner, J. E. (1988) · Experimental Eye Research · doi:10.1016/0014-4835(88)90073-5 · Cited by 330 · see citing works
Geraedts, J. P. M. (1995) · Methods in molecular genetics · doi:10.1016/s1067-2389(06)80032-4 · Cited by 318 · see citing works
HEREDITARY DEGENERATION OF THE RAT RETINA
Bourne, M. C., Campbell, D. A., & Tansley, K. (1938) · British Journal of Ophthalmology · doi:10.1136/bjo.22.10.613 · Cited by 312 · see citing works
Cloning and mRNA expression analysis of a novel human protooncogene, c-mer.
Graham, D. K., Dawson, T. L., Mullaney, D. L., Snodgrass, H. R., & Earp, H. S. (1994) · PubMed · Cited by 302 · see citing works
PARTICIPATION OF THE RETINAL PIGMENT EPITHELIUM IN THE ROD OUTER SEGMENT RENEWAL PROCESS
Young, R. W., & Bok, D. (1969) · Journal of Cell Biology · doi:10.1083/jcb.42.2.392 · Cited by 271 · see citing works
Edwards, R. B., & Szamier, R. B. (1977) · Science · doi:10.1126/science.560718 · Cited by 250 · see citing works
DEGENERATION OF THE RETINA AND CATARACT
Bourne, M. C., & Grüneberg, H. (1939) · Journal of Heredity · doi:10.1093/oxfordjournals.jhered.a104695 · Cited by 44 · see citing works
[3]Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids
Bunge, S., Fuchs, S., & Gal, A. (1996) · Methods in molecular genetics · doi:10.1016/s1067-2389(96)80036-7 · Cited by 35 · see citing works
Weier, H.-U. G., Fung, J. C., & Lersch, R. (1999) · Cytogenetic and Genome Research · doi:10.1159/000015223 · Cited by 20 · see citing works
Flagged first, then by citations
1 of the 16 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Hartong, D. T., Berson, E. L., & Dryja, T. P. (2006) · The Lancet · doi:10.1016/s0140-6736(06)69740-7 · Cited by 2,924 · see citing works
The Retinal Pigment Epithelium in Visual Function
Strauss, O. (2005) · Physiological Reviews · doi:10.1152/physrev.00021.2004 · Cited by 2,828 · see citing works
Inflammation in Neurodegenerative Disease—A Double-Edged Sword
Wyss-Coray, T., & Mucke, L. (2002) · Neuron · doi:10.1016/s0896-6273(02)00794-8 · Cited by 1,235 · see citing works
Phagocytosis and clearance of apoptotic cells is mediated by MER
Scott, R. S., McMahon, E. J., Pop, S. M., Reap, E. A., Caricchio, R., Cohen, P. L., Earp, H. S., & Matsushima, G. K. (2001) · Nature · doi:10.1038/35075603 · Cited by 1,215 · see citing works
Hamel, C. (2006) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-1-40 · Cited by 962 · see citing works
Immunobiology of the TAM receptors
Lemke, G., & Rothlin, C. V. (2008) · Nature reviews. Immunology · doi:10.1038/nri2303 · Cited by 867 · see citing works
Leber congenital amaurosis: Genes, proteins and disease mechanisms
den Hollander, A. I., Roepman, R., Koenekoop, R. K., & Cremers, F. P. M. (2008) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2008.05.003 · Cited by 811 · see citing works
Linger, R. M. A., Keating, A. K., Earp, H. S., & Graham, D. K. (2008) · Advances in cancer research · doi:10.1016/s0065-230x(08)00002-x · Cited by 750 · see citing works
The TAM family: phosphatidylserine-sensing receptor tyrosine kinases gone awry in cancer
Graham, D. K., DeRyckere, D., Davies, K. D., & Earp, H. S. (2014) · Nature reviews. Cancer · doi:10.1038/nrc3847 · Cited by 708 · see citing works
The Retinal Pigment Epithelium in Health and Disease
Sparrrow, J. R., Hicks, D., & Hamel, C. (2010) · Current Molecular Medicine · doi:10.2174/156652410793937813 · Cited by 625 · see citing works
Lemke, G. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009076 · Cited by 598 · see citing works
Gupta, N., Brown, K. E., & Milam, A. H. (2003) · Experimental Eye Research · doi:10.1016/s0014-4835(02)00332-9 · Cited by 582 · see citing works
The molecular basis of human retinal and vitreoretinal diseases
Berger, W., Kloeckener‐Gruissem, B., & Neidhardt, J. (2010) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2010.03.004 · Cited by 589 · see citing works
Kamao, H., Mandai, M., Okamoto, S., Sakai, N., Suga, A., Sugita, S., Kiryu, J., & Takahashi, M. (2014) · Stem Cell Reports · doi:10.1016/j.stemcr.2013.12.007 · Cited by 594 · see citing works
Liang, F.-Q., & Godley, B. F. (2003) · Experimental Eye Research · doi:10.1016/s0014-4835(03)00023-x · Cited by 557 · see citing works
Clearance of apoptotic cells: implications in health and disease
Elliott, M. R., & Ravichandran, K. S. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201004096 · Cited by 547 · see citing works
TAM Receptor Signaling in Immune Homeostasis
Rothlin, C. V., Silva, E. A. C., Bosurgi, L., & Ghosh, S. (2015) · Annual Review of Immunology · doi:10.1146/annurev-immunol-032414-112103 · Cited by 516 · see citing works
Lü, B., Malcuit, C. M., Wang, S., Girman, S. V., Francis, P. J., Lemieux, L., Lanza, R., & Lund, R. D. (2009) · Stem Cells · doi:10.1002/stem.149 · Cited by 471 · see citing works
How macrophages deal with death
Lemke, G. (2019) · Nature reviews. Immunology · doi:10.1038/s41577-019-0167-y · Cited by 437 · see citing works
Phagocytosis of Retinal Rod and Cone Photoreceptors
Kevany, B. M., & Palczewski, K. (2010) · Physiology · doi:10.1152/physiol.00038.2009 · Cited by 426 · see citing works
“To further emphasize the role of this receptor, three mutations in human MertK were shown to result in retinal dystrophies (29).”
BackgroundDiseases Caused by Defects in the Visual Cycle: Retinoids as Potential Therapeutic Agents
Travis, G. H., Golczak, M., Moise, A. R., & Palczewski, K. (2007) · Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev.pharmtox.47.120505.105225 · Cited by 419 · see citing works
The cell biology of the retinal pigment epithelium
Lakkaraju, A., Umapathy, A., Tan, L. X., Daniele, L., Philp, N. J., Boesze-Battaglia, K., & Williams, D. S. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100846 · Cited by 422 · see citing works
Human Embryonic Stem Cell–Derived Cells Rescue Visual Function in Dystrophic RCS Rats
Lund, R. D., Wang, S., Klimanskaya, I. V., Holmes, T. M., Ramos-Kelsey, R., Lü, B., Girman, S. V., Bischoff, N., Sauvé, Y., & Lanza, R. (2006) · Cloning and Stem Cells · doi:10.1089/clo.2006.8.189 · Cited by 407 · see citing works
Anderson, H. A., Maylock, C. A., Williams, J. A., Paweletz, C. P., Shu, H., & Shacter, E. B. (2002) · Nature Immunology · doi:10.1038/ni871 · Cited by 405 · see citing works
Seitz, H., Camenisch, T. D., Lemke, G., Earp, H. S., & Matsushima, G. K. (2007) · The Journal of Immunology · doi:10.4049/jimmunol.178.9.5635 · Cited by 403 · see citing works
Hafizi, S., & Dahlbäck, B. (2006) · FEBS Journal · doi:10.1111/j.1742-4658.2006.05529.x · Cited by 356 · see citing works
Noncanonical autophagy promotes the visual cycle
Kim, J.-Y., Zhao, H., Martinez, J., Doggett, T. A., Kolesnikov, A. V., Tang, P. H., Ablonczy, Z., Chan, C.-C., Zhou, Z., Green, D. R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.06.012 · Cited by 347 · see citing works
TAM receptors, Gas6, and protein S: roles in inflammation and hemostasis
van der Meer, J. H. M., van der Poll, T., & Veer, C. V. ′. (2014) · Blood · doi:10.1182/blood-2013-09-528752 · Cited by 341 · see citing works
Sather, S., Kenyon, K. D., Lefkowitz, J. B., Liang, X., Varnum, B. C., Henson, P. M., & Graham, D. K. (2006) · Blood · doi:10.1182/blood-2006-05-021634 · Cited by 333 · see citing works
A genomewide survey of developmentally relevant genes in Ciona intestinalis
Yagi, K., Satou, Y., Mazet, F., Shimeld, S. M., Degnan, B. M., Rokhsar, D. S., Levine, M., Kohara, Y., & Satoh, N. (2003) · Development Genes and Evolution · doi:10.1007/s00427-003-0322-z · Cited by 332 · see citing works
Kaarniranta, K., Sinha, D., Blasiak, J., Kauppinen, A., Veréb, Z., Salminen, A., Boulton, M. E., & Petrovski, G. (2013) · Autophagy · doi:10.4161/auto.24546 · Cited by 326 · see citing works
The clearance of dying cells: table for two
Green, D. R., Oguin, T. H., & Martinez, J. (2016) · Cell Death & Differentiation · doi:10.1038/cdd.2015.172 · Cited by 314 · see citing works
The mechanism of cone cell death in Retinitis Pigmentosa
Campochiaro, P. A., & Mir, T. A. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.08.004 · Cited by 310 · see citing works
Zhao, C., Yasumura, D., Li, X., Matthes, M., Lloyd, M., Nielsen, G., Ahern, K., Snyder, M., Bok, D., Dunaief, J. L., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci44303 · Cited by 303 · see citing works
Damisah, E. C., Hill, R. A., Rai, A., Chen, F., Rothlin, C. V., Ghosh, S., & Grutzendler, J. (2020) · Science Advances · doi:10.1126/sciadv.aba3239 · Cited by 301 · see citing works
Thorp, E., Vaisar, T., Subramanian, M., Mautner, L., Blobel, C., & Tabas, I. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.263020 · Cited by 298 · see citing works
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Rivolta, C. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1219 · Cited by 296 · see citing works
Correction of the retinal dystrophy phenotype of the RCS rat by viral gene transfer of <i>Mertk</i>
Vollrath, D., Feng, W., Duncan, J. L., Yasumura, D., D'Cruz, P. M., Chappelow, A., Matthes, M. T., Kay, M. A., & LaVail, M. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.221364198 · Cited by 290 · see citing works
Tyro3 Family-Mediated Cell Entry of Ebola and Marburg Viruses
Shimojima, M., Takada, A., Ebihara, H., Neumann, G., Fujioka, K., Irimura, T., Jones, S. J. M., Feldmann, H., & Kawaoka, Y. (2006) · Journal of Virology · doi:10.1128/jvi.01157-06 · Cited by 292 · see citing works
A fully organic retinal prosthesis restores vision in a rat model of degenerative blindness
Maya‐Vetencourt, J. F., Ghezzi, D., Antognazza, M. R., Colombo, E., Mete, M., Feyen, P., Desii, A., Buschiazzo, A., Paolo, M. D., Marco, S. D., et al. (2017) · Nature Materials · doi:10.1038/nmat4874 · Cited by 290 · see citing works
Differential TAM receptor–ligand–phospholipid interactions delimit differential TAM bioactivities
Lew, E. D., Oh, J., Burrola, P., Lax, I., Zagórska, A., Través, P. G., Schlessinger, J., & Lemke, G. (2014) · eLife · doi:10.7554/elife.03385 · Cited by 271 · see citing works
TAM receptor function in the retinal pigment epithelium
Prasad, D., Rothlin, C. V., Burrola, P., Burstyn-Cohen, T., Lu, Q., Garcia de Frutos, P., & Lemke, G. (2006) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2006.06.011 · Cited by 270 · see citing works
A comprehensive review of retinal gene therapy
Boye, S. E., Boye, S. L., Lewin, A. S., & Hauswirth, W. W. (2013) · Molecular Therapy · doi:10.1038/mt.2012.280 · Cited by 262 · see citing works
An RCS-Like Retinal Dystrophy Phenotype in Mer Knockout Mice
Duncan, J. L., LaVail, M. M., Yasumura, D., Matthes, M. T., Yang, H., Trautmann, N., Chappelow, A. V., Feng, W., Earp, H. S., Matsushima, G. K., et al. (2003) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.02-0438 · Cited by 259 · see citing works
Lund, R. D., Wang, S., Lü, B., Girman, S. V., Holmes, T. M., Sauvé, Y., Messina, D. J., Harris, I. R., Kihm, A. J., Harmon, A. M., et al. (2006) · Stem Cells · doi:10.1634/stemcells.2006-0308 · Cited by 258 · see citing works
Stem cells in retinal regeneration: past, present and future
Ramsden, C. M., Powner, M. B., Carr, A. F., Smart, M. J. K., da Cruz, L., & Coffey, P. J. (2013) · Development · doi:10.1242/dev.092270 · Cited by 254 · see citing works
TAM receptors and the clearance of apoptotic cells
Lemke, G., & Burstyn‐Cohen, T. (2010) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.2010.05744.x · Cited by 244 · see citing works
Chung, E. Y., Liu, J., Homma, Y., Zhang, Y., Brendolan, A., Saggese, M., Han, J., Silverstein, R. L., Selleri, L., & Ma, X. (2007) · Immunity · doi:10.1016/j.immuni.2007.11.014 · Cited by 249 · see citing works
Feng, W., Yasumura, D., Matthes, M. T., LaVail, M. M., & Vollrath, D. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m107876200 · Cited by 244 · see citing works
Ferrington, D. A., Sinha, D., & Kaarniranta, K. (2016) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2015.09.002 · Cited by 241 · see citing works
Inoue, Y., Iriyama, A., Ueno, S., Takahashi, H., Kondo, M., Tamaki, Y., Araie, M., & Yanagi, Y. (2007) · Experimental Eye Research · doi:10.1016/j.exer.2007.04.007 · Cited by 231 · see citing works
Biology and therapy of inherited retinal degenerative disease: insights from mouse models
Veleri, S., Lazar, C. H., Chang, B., Sieving, P. A., Banin, E., & Swaroop, A. (2015) · Disease Models & Mechanisms · doi:10.1242/dmm.017913 · Cited by 232 · see citing works
Understanding photoreceptor outer segment phagocytosis: use and utility of RPE cells in culture
Mazzoni, F., Safa, H., & Finnemann, S. C. (2014) · Experimental Eye Research · doi:10.1016/j.exer.2014.01.010 · Cited by 221 · see citing works
Phagocytosis of apoptotic cells and the resolution of inflammation
MADERNA, P., & Godson, C. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2003.09.004 · Cited by 223 · see citing works
Sung, C.-H., & Chuang, J.-Z. (2010) · The Journal of Cell Biology · doi:10.1083/jcb.201006020 · Cited by 217 · see citing works
Maya‐Vetencourt, J. F., Manfredi, G., Mete, M., Colombo, E., Bramini, M., Marco, S. D., Shmal, D., Mantero, G., Dipalo, M., Rocchi, A., et al. (2020) · Nature Nanotechnology · doi:10.1038/s41565-020-0696-3 · Cited by 211 · see citing works
Subthreshold Nanosecond Laser Intervention in Age-Related Macular Degeneration
Guymer, R. H., Wu, Z., Hodgson, L., Caruso, E., Brassington, K. H., Tindill, N., Aung, K. Z., McGuinness, M. B., Fletcher, E. L., Chen, F. K., et al. (2018) · Ophthalmology · doi:10.1016/j.ophtha.2018.09.015 · Cited by 211 · see citing works
Haruta, M., Sasai, Y., Kawasaki, H., Amemiya, K., Ooto, S., Kitada, M., Suemori, H., Nakatsuji, N., Idé, C., Honda, Y., et al. (2004) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.03-1034 · Cited by 210 · see citing works
Focal adhesion kinase signaling promotes phagocytosis of integrin‐bound photoreceptors
Finnemann, S. C. (2003) · The EMBO Journal · doi:10.1093/emboj/cdg416 · Cited by 208 · see citing works
Seddon, J. M., Santangelo, S. L., Book, K., Chong, S., & Cote, J. (2003) · The American Journal of Human Genetics · doi:10.1086/378505 · Cited by 208 · see citing works
Farrar, G. J., Kenna, P. F., & Humphries, P. (2002) · The EMBO Journal · doi:10.1093/emboj/21.5.857 · Cited by 202 · see citing works
Weber, M., Rabinowitz, J., Provost, N., Conrath, H., Folliot, S., Briot, D., Chérel, Y., Chenuaud, P., Samulski, J., Moullier, P., et al. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00098-4 · Cited by 203 · see citing works
TAM receptor signaling and autoimmune disease
Rothlin, C. V., & Lemke, G. (2010) · Current Opinion in Immunology · doi:10.1016/j.coi.2010.10.001 · Cited by 198 · see citing works
Molecular genetics of Leber congenital amaurosis
Cremers, F. P. M. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.10.1169 · Cited by 200 · see citing works
MerTK inhibition in tumor leukocytes decreases tumor growth and metastasis
Cook, R. S., Jacobsen, K. M., Wofford, A., DeRyckere, D., Stanford, J. C., Prieto, A. L., Redente, E. F., Sandahl, M. A., Hunter, D. M., Strunk, K. E., et al. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67655 · Cited by 186 · see citing works
Age-related macular degeneration: A two-level model hypothesis
Rozing, M. P., Durhuus, J. A., Nielsen, M. K., Subhi, Y., Kirkwood, T. B. L., Westendorp, R. G., & Sørensen, T. L. (2019) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100825 · Cited by 183 · see citing works
Patin, É., Kutalik, Z., Guergnon, J., Bibert, S., Nalpas, B., Jouanguy, E., Munteanu, M., Bousquet, L., Argiro, L., Halfon, P., et al. (2012) · Gastroenterology · doi:10.1053/j.gastro.2012.07.097 · Cited by 176 · see citing works
Garafalo, A. V., Cideciyan, A. V., Héon, E., Sheplock, R., Pearson, A., WeiYang Yu, C., Sumaroka, A., Aguirre, G. D., & Jacobson, S. G. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2019.100827 · Cited by 173 · see citing works
Self-citationHigh-Resolution In Vivo Imaging of the RPE Mosaic in Eyes with Retinal Disease
Roorda, A., Zhang, Y., & Duncan, J. L. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1450 · Cited by 173 · see citing works
Phagocytic Removal of Apoptotic Spermatogenic Cells by Sertoli Cells: Mechanisms and Consequences
Nakanishi, Y., & Shiratsuchi, A. (2004) · Biological and Pharmaceutical Bulletin · doi:10.1248/bpb.27.13 · Cited by 171 · see citing works
Development of human embryonic stem cell therapies for age-related macular degeneration
Carr, A. F., Smart, M. J. K., Ramsden, C. M., Powner, M. B., da Cruz, L., & Coffey, P. J. (2013) · Trends in Neurosciences · doi:10.1016/j.tins.2013.03.006 · Cited by 166 · see citing works
Perspective: Microglia and Monocyte Distinct Roles in Degenerative Diseases of the Retina
Chen, Y., Roubeix, C., Sennlaub, F., & Saban, D. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.03.012 · Cited by 135 · see citing works
Jones, B. W., Kondo, M., Terasaki, H., Lin, Y., McCall, M. A., & Marc, R. E. (2012) · Japanese Journal of Ophthalmology · doi:10.1007/s10384-012-0147-2 · Cited by 166 · see citing works
Sun, M., Finnemann, S. C., Febbraio, M., Shan, L., Annangudi, S. P., Podrez, E. A., Hoppe, G., Darrow, R., Organisciak, D. T., Salomon, R. G., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m509769200 · Cited by 165 · see citing works
Burstyn-Cohen, T., Lew, E. D., Través, P. G., Burrola, P. G., Hash, J. C., & Lemke, G. (2012) · Neuron · doi:10.1016/j.neuron.2012.10.015 · Cited by 163 · see citing works
Nanoparticles for gene delivery to retinal pigment epithelial cells.
Bejjani, R. A., BenEzra, D., Cohen, H., Rieger, J., Andrieu‐Soler, C., Jeanny, J., Gollomb, G., & Béhar‐Cohen, F. (2005) · PubMed · Cited by 163 · see citing works
Macrophage regulation by Tyro 3 family receptors
Lemke, G., & Lu, Q. (2003) · Current Opinion in Immunology · doi:10.1016/s0952-7915(02)00016-x · Cited by 159 · see citing works
Tomita, H., Sugano, E., Yawo, H., Ishizuka, T., Isago, H., Narikawa, S., Kügler, S., & Tamai, M. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1501 · Cited by 156 · see citing works
Efferocytosis in the tumor microenvironment
Werfel, T. A., & Cook, R. S. (2018) · Seminars in Immunopathology · doi:10.1007/s00281-018-0698-5 · Cited by 156 · see citing works
Vives-Bauza, C., Anand, M., Shirazi, A. K., Magrane, J., Gao, J., Vollmer-Snarr, H. R., Manfredi, G., & Finnemann, S. C. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m800706200 · Cited by 155 · see citing works
Tim4- and MerTK-Mediated Engulfment of Apoptotic Cells by Mouse Resident Peritoneal Macrophages
Nishi, C., Toda, S., Segawa, K., & Nagata, S. (2014) · Molecular and Cellular Biology · doi:10.1128/mcb.01394-13 · Cited by 157 · see citing works
Structural and functional MRI reveals multiple retinal layers
Cheng, H., Nair, G., Walker, T. A., Kim, M., Pardue, M. T., Thulé, P. M., Olson, D. E., & Duong, T. Q. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0605790103 · Cited by 154 · see citing works
Ciliary ectosomes: transmissions from the cell's antenna
Wood, C. R., & Rosenbaum, J. L. (2015) · Trends in Cell Biology · doi:10.1016/j.tcb.2014.12.008 · Cited by 153 · see citing works
Light and inherited retinal degeneration
Paskowitz, D. M. (2006) · British Journal of Ophthalmology · doi:10.1136/bjo.2006.097436 · Cited by 151 · see citing works
Thompson, D. A., McHenry, C. L., Li, Y., Richards, J. E., Othman, M., SCHWINGER, E., Vollrath, D., Jacobson, S. G., & Gal, A. (2002) · The American Journal of Human Genetics · doi:10.1086/338455 · Cited by 151 · see citing works
Tomita, H., Sugano, E., Isago, H., Hiroi, T., Wang, Z., Ohta, E., & Tamai, M. (2010) · Experimental Eye Research · doi:10.1016/j.exer.2009.12.006 · Cited by 148 · see citing works
MerTK is required for apoptotic cell–induced T cell tolerance
Wallet, M. A., Sen, P., Flores, R. R., Wang, Y., Yi, Z., Huang, Y., Mathews, C. E., Earp, H. S., Matsushima, G. K., Wang, B., et al. (2008) · The Journal of Experimental Medicine · doi:10.1084/jem.20062293 · Cited by 149 · see citing works
Animal models in research on retinal degenerations: past progress and future hope
Chader, G. J. (2002) · Vision Research · doi:10.1016/s0042-6989(01)00212-7 · Cited by 147 · see citing works
Hall, M. O., Obin, M. S., Heeb, M. J., Burgess, B. L., & Abrams, T. A. (2005) · Experimental Eye Research · doi:10.1016/j.exer.2005.03.017 · Cited by 145 · 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 144 · see citing works
Early changes in synaptic connectivity following progressive photoreceptor degeneration in RCS rats
Cuenca, N., Pinilla, I., Sauvé, Y., & Lund, R. D. (2005) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2005.04300.x · Cited by 144 · see citing works
Non-Invasive Stem Cell Therapy in a Rat Model for Retinal Degeneration and Vascular Pathology
Wang, S., Lü, B., Girman, S., Duan, J., McFarland, T. J., Zhang, Q., Grompe, M., Adamus, G., Appukuttan, B., & Lund, R. D. (2010) · PLoS ONE · doi:10.1371/journal.pone.0009200 · Cited by 141 · see citing works
Imaging outer segment renewal in living human cone photoreceptors
Jonnal, R. S., Besecker, J., Derby, J. C., Kocaoglu, O. P., Cense, B., Gao, W., Wang, Q., & Miller, D. T. (2010) · Optics Express · doi:10.1364/oe.18.005257 · Cited by 140 · see citing works
AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa
Smith, A. J., Schlichtenbrede, F. C., Tschernutter, M., Bainbridge, J. W., Thrasher, A. J., & Ali, R. R. (2003) · Molecular Therapy · doi:10.1016/s1525-0016(03)00144-8 · Cited by 140 · see citing works
Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
Kameya, S. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.16.1879 · Cited by 134 · see citing works
Morimoto, T., Fujikado, T., Choi, J., Kanda, H., Miyoshi, T., Fukuda, Y., & Tano, Y. (2007) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.06-1404 · Cited by 132 · see citing works
Phosphatidylserine Is the Signal for TAM Receptors and Their Ligands
Lemke, G. (2017) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2017.06.004 · Cited by 129 · see citing works
Unravelling the genetics of inherited retinal dystrophies: Past, present and future
Broadgate, S., Yu, J., Downes, S. M., & Halford, S. (2017) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2017.03.003 · Cited by 122 · see citing works
Neuroprotective Effect of Subretinal Implants in the RCS Rat
Pardue, M. T., Phillips, M. J., Yin, H., Sippy, B. D., Webb-Wood, S., Chow, A. Y., & Ball, S. L. (2005) · Investigative Ophthalmology & Visual Science · doi:10.1167/iovs.04-0515 · Cited by 119 · see citing works
McMenamin, P. G., Saban, D. R., & Dando, S. J. (2019) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.12.002 · Cited by 115 · see citing works
- Authors
- Gal, A., Li, Y., Thompson, D. A., Weir, J., Orth, U., Jacobson, S. G., Apfelstedt-Sylla, E., & Vollrath, D.
- Affiliations
- University Medical Center Hamburg-Eppendorf (DE)
- University of Michigan (US)
- Stanford Medicine (US)
- University of Pennsylvania (US)
- University of Tübingen (DE)
- Corresponding author
- Vollrath, Douglas
- Venue
- Nature Genetics
- Published
- 2000-11
- Volume
- 26
- Issue
- 3
- Pages
- 270-271
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1507327514
- Cited by
- 679
- References
- 16
- Citations by year
- 2026: 20 · 2025: 20 · 2024: 16 · 2023: 22 · 2022: 33 · 2021: 30 · 2020: 29 · 2019: 27 · 2018: 32 · 2017: 30 · 2016: 21 · 2015: 26 · 2014: 30 · 2013: 37 · 2012: 31
- FWCI
- 8.92
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- 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 › Cell Biology › Cellular transport and secretion
- Keywords
- MERTK, retinitis pigmentosa, retinal degeneration, retinal pigment epithelium, photoreceptor outer segment phagocytosis, receptor tyrosine kinase, genetic mutations, genetic susceptibility
- MeSH terms
- c-Mer Tyrosine Kinase, Adult, Animals, Chromosomes, Human, Pair 2, Cloning, Molecular, Codon, Consanguinity, Disease Models, Animal, DNA Mutational Analysis, Exons, Eye Proteins, Female, Genes, Recessive, Humans, Introns, Male, Middle Aged, Phagocytosis, Proto-Oncogene Proteins, Rats, Inbred Strains, Retinal Degeneration, Retinitis Pigmentosa, Rod Cell Outer Segment, Rodent Diseases, Species Specificity, Terminator Regions, Genetic, Frameshift Mutation, Point Mutation, Sequence Deletion, Polymorphism, Single-Stranded Conformational, Amino Acid Substitution, Mutation, Missense, Receptor Protein-Tyrosine Kinases, RNA Splice Sites, Rats
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
