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ZFIN ID:
ZDB-GENE-041111-243
CITATIONS
(60 total)
Gene Name:
centrosomal protein 290
Gene Symbol:
cep290
Baye, L.M., Patrinostro, X., Swaminathan, S., Beck, J.S., Zhang, Y., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2011) The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Human molecular genetics. 20(8):1467-77
Bergboer, J.G.M., Wyatt, C., Austin-Tse, C., Yaksi, E., Drummond, I.A. (2018) Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons. Cilia. 7:2
Cardenas-Rodriguez, M., Austin-Tse, C., Bergboer, J.G.M., Molinari, E., Sugano, Y., Bachmann-Gagescu, R., Sayer, J.A., Drummond, I.A. (2021) Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science. 134(14):
Ciampi, L., Mantica, F., López-Blanch, L., Permanyer, J., Rodriguez-Marín, C., Zang, J., Cianferoni, D., Jiménez-Delgado, S., Bonnal, S., Miravet-Verde, S., Ruprecht, V., Neuhauss, S.C.F., Banfi, S., Carrella, S., Serrano, L., Head, S.A., Irimia, M. (2022) Specialization of the photoreceptor transcriptome by
Srrm3
-dependent microexons is required for outer segment maintenance and vision. Proceedings of the National Academy of Sciences of the United States of America. 119:e2117090119
Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
Djebar, M., Anselme, I., Pezeron, G., Bardet, P.L., Cantaut-Belarif, Y., Eschstruth, A., López-Santos, D., Le Ribeuz, H., Jenett, A., Khoury, H., Veziers, J., Parmentier, C., Hirschler, A., Carapito, C., Bachmann-Gagescu, R., Schneider-Maunoury, S., Vesque, C. (2024) Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction. eLIFE. 13:
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Fogerty, J., Song, P., Boyd, P., Grabinski, S.E., Hoang, T., Reich, A., Cianciolo, L.T., Blackshaw, S., Mumm, J.S., Hyde, D.R., Perkins, B.D. (2022) Notch inhibition promotes regeneration and immunosuppression supports cone survival in a zebrafish model of inherited retinal dystrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 42(26):5144-5158
Gerner, M., Haribaskar, R., Pütz, M., Czerwitzki, J., Walz, G., and Schäfer, T. (2010) The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network. Kidney International. 77(10):891-896
Gorden, N.T., Arts, H.H., Parisi, M.A., Coene, K.L., Letteboer, S.J., van Beersum, S.E., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A.F., Ozyurek, H., Dibooglu, S., Otto, E.A., Liu, Y., Davis, E.E., Hutter, C.M., Bammler, T.K., Farin, F.M., Dorschner, M., Topçu, M., Zackai, E.H., Rosenthal, P., Owens, K.N., Katsanis, N., Vincent, J.B., Hildebrandt, F., Rubel, E.W., Raible, D.W., Knoers, N.V., Chance, P.F., Roepman, R., Moens, C.B., Glass, I.A., and Doherty, D. (2008) CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. American journal of human genetics. 83(5):559-571
Grabinski, S.E., Parsana, D., Perkins, B.D. (2023) Comparative analysis of transcriptional changes in zebrafish
cep290
and
bbs2
mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience. 16:11488401148840
Kok, F.O., Shin, M., Ni, C., Gupta, A., Grosse, A.S., van Impel, A., Kirchmaier, B.C., Peterson-Maduro, J., Kourkoulis, G., Male, I., DeSantis, D.F., Sheppard-Tindell, S., Ebarasi, L., Betsholtz, C., Schulte-Merker, S., Wolfe, S.A., Lawson, N.D. (2015) Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish. Developmental Cell. 32(1):97-108
Leitch, C.C., Zaghloul, N.A., Davis, E.E., Stoetzel, C., Diaz-Font, A., Rix, S., Al-Fadhel, M., Lewis, R.A., Eyaid, W., Banin, E., Dollfus, H., Beales, P.L., Badano, J.L., and Katsanis, N. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nature Genetics. 40(4):443-448
Lessieur, E.M., Fogerty, J., Gaivin, R.J., Song, P., Perkins, B.D. (2017) The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. Investigative ophthalmology & visual science. 58:448-460
Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., Perkins, B.D. (2019) Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One. 14:e0213960
Leventea, E., Zhu, Z., Fang, X., Nikolaeva, Y., Markham, E., Hirst, R.A., van Eeden, F.J.M., Malicki, J.J. (2021) Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor. Proceedings of the National Academy of Sciences of the United States of America. 118(28):
Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E.C., Harewood, L., Kosmicki, J.A., Loviglio, M.N., Giannuzzi, G., Hippolyte, L., Maillard, A.M., Alfaiz, A.A., 16p11.2 European Consortium, van Haelst, M.M., Andrieux, J., Gusella, J.F., Daly, M.J., Beckmann, J.S., Jacquemont, S., Talkowski, M.E., Katsanis, N., Reymond, A. (2015) A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. American journal of human genetics. 96(5):784-96
Murga-Zamalloa, C.A., Ghosh, A.K., Patil, S.B., Reed, N.A., Chan, L.S., Davuluri, S., Peranen, J., Hurd, T.W., Rachel, R.A., and Khanna, H. (2011) Accumulation of RAF-1 kinase inhibitory protein (RKIP) is associated with CEP290-mediated photoreceptor degeneration in ciliopathies. The Journal of biological chemistry. 286(32):28276-86
Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R.Y., Elia, N., Bachmann-Gagescu, R., Roy, S., Elkouby, Y.M. (2022) Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science (New York, N.Y.). 376(6599):eabh3104
Noble, A.R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T.D.S., Özkoc, H., Greter, N.R., Phelps, I.G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., Bachmann-Gagescu, R. (2024) Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open. 13(11):
Rachel, R.A., May-Simera, H.L., Veleri, S., Gotoh, N., Choi, B.Y., Murga-Zamalloa, C., McIntyre, J.C., Marek, J., Lopez, I., Hackett, A.N., Brooks, M., den Hollander, A.I., Beales, P.L., Li, T., Jacobson, S.G., Sood, R., Martens, J.R., Liu, P., Friedman, T.B., Khanna, H., Koenekoop, R.K., Kelley, M.W., and Swaroop, A. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest.. 122(4):1233-1245
Sayer, J.A., Otto, E.A., O'toole, J.F., Nurnberg, G., Kennedy, M.A., Becker, C., Hennies, H.C., Helou, J., Attanasio, M., Fausett, B.V., Utsch, B., Khanna, H., Liu, Y., Drummond, I., Kawakami, I., Kusakabe, T., Tsuda, M., Ma, L., Lee, H., Larson, R.G., Allen, S.J., Wilkinson, C.J., Nigg, E.A., Shou, C., Lillo, C., Williams, D.S., Hoppe, B., Kemper, M.J., Neuhaus, T., Parisi, M.A., Glass, I.A., Petry, M., Kispert, A., Gloy, J., Ganner, A., Walz, G., Zhu, X., Goldman, D., Nurnberg, P., Swaroop, A., Leroux, M.R., and Hildebrandt, F. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nature Genetics. 38(6):674-681
Schäfer, T., Pütz, M., Lienkamp, S., Ganner, A., Bergbreiter, A., Ramachandran, H., Gieloff, V., Gerner, M., Mattonet, C., Czarnecki, P.G., Sayer, J.A., Otto, E.A., Hildebrandt, F., Kramer-Zucker, A., and Walz, G. (2008) Genetic and physical interaction between the NPHP5 and NPHP6 gene products. Human molecular genetics. 17(23):3655-3662
Slaats, G.G., Saldivar, J.C., Bacal, J., Zeman, M.K., Kile, A.C., Hynes, A.M., Srivastava, S., Nazmutdinova, J., Ouden, K.D., Zagers, M.S., Foletto, V., Verhaar, M.C., Miles, C., Sayer, J.A., Cimprich, K.A., Giles, R.H. (2015) DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. The Journal of Clinical Investigation. 125(9):3657-66
Stawicki, T.M., Hernandez, L., Esterberg, R., Linbo, T., Owens, K.N., Shah, A.N., Thapa, N., Roberts, B., Moens, C.B., Rubel, E.W., Raible, D.W. (2016) Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish. G3 (Bethesda). 6(7):2225-35
Tobin, J.L., and Beales, P.L. (2008) Restoration of renal function in zebrafish models of ciliopathies. Pediatric nephrology (Berlin, Germany). 23(11):2095-2099
Unal Eroglu, A., Mulligan, T.S., Zhang, L., White, D.T., Sengupta, S., Nie, C., Lu, N.Y., Qian, J., Xu, L., Pei, W., Burgess, S.M., Saxena, M.T., Mumm, J.S. (2018) Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration. Frontiers in cell and developmental biology. 6:88
Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
Wang, X., Shan, X., Gregory-Evans, K., Gregory-Evans, C.Y. (2020) RNA-based therapies in animal models of Leber congenital amaurosis causing blindness. Precision clinical medicine. 3:113-126
Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021)
mtor
Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish
tmem67
Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
Djebar, M., Anselme, I., Pezeron, G., Bardet, P.L., Cantaut-Belarif, Y., Eschstruth, A., López-Santos, D., Le Ribeuz, H., Jenett, A., Khoury, H., Veziers, J., Parmentier, C., Hirschler, A., Carapito, C., Bachmann-Gagescu, R., Schneider-Maunoury, S., Vesque, C. (2024) Astrogliosis and neuroinflammation underlie scoliosis upon cilia dysfunction. eLIFE. 13:
Noble, A.R., Masek, M., Hofmann, C., Cuoco, A., Rusterholz, T.D.S., Özkoc, H., Greter, N.R., Phelps, I.G., Vladimirov, N., Kollmorgen, S., Stoeckli, E., Bachmann-Gagescu, R. (2024) Shared and unique consequences of Joubert Syndrome gene dysfunction on the zebrafish central nervous system. Biology Open. 13(11):
Zebrafish Nomenclature Committee (2024) Nomenclature Data Curation (2024). Nomenclature Committee Submission.
Grabinski, S.E., Parsana, D., Perkins, B.D. (2023) Comparative analysis of transcriptional changes in zebrafish
cep290
and
bbs2
mutants by RNA-seq reveals upregulation of inflammatory and stress-related pathways. Frontiers in molecular neuroscience. 16:11488401148840
Ciampi, L., Mantica, F., López-Blanch, L., Permanyer, J., Rodriguez-Marín, C., Zang, J., Cianferoni, D., Jiménez-Delgado, S., Bonnal, S., Miravet-Verde, S., Ruprecht, V., Neuhauss, S.C.F., Banfi, S., Carrella, S., Serrano, L., Head, S.A., Irimia, M. (2022) Specialization of the photoreceptor transcriptome by
Srrm3
-dependent microexons is required for outer segment maintenance and vision. Proceedings of the National Academy of Sciences of the United States of America. 119:e2117090119
Fogerty, J., Song, P., Boyd, P., Grabinski, S.E., Hoang, T., Reich, A., Cianciolo, L.T., Blackshaw, S., Mumm, J.S., Hyde, D.R., Perkins, B.D. (2022) Notch inhibition promotes regeneration and immunosuppression supports cone survival in a zebrafish model of inherited retinal dystrophy. The Journal of neuroscience : the official journal of the Society for Neuroscience. 42(26):5144-5158
Mytlis, A., Kumar, V., Qiu, T., Deis, R., Hart, N., Levy, K., Masek, M., Shawahny, A., Ahmad, A., Eitan, H., Nather, F., Adar-Levor, S., Birnbaum, R.Y., Elia, N., Bachmann-Gagescu, R., Roy, S., Elkouby, Y.M. (2022) Control of meiotic chromosomal bouquet and germ cell morphogenesis by the zygotene cilium. Science (New York, N.Y.). 376(6599):eabh3104
Wang, J., Thomas, H.R., Thompson, R.G., Waldrep, S.C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J.D., Yeo, N.C., Drummond, I.A., Yoder, B.K., Amack, J.D., Perkins, B., Parant, J.M. (2022) Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants. Disease models & mechanisms. 15(12):
Cardenas-Rodriguez, M., Austin-Tse, C., Bergboer, J.G.M., Molinari, E., Sugano, Y., Bachmann-Gagescu, R., Sayer, J.A., Drummond, I.A. (2021) Genetic compensation for cilia defects in cep290/NPHP6 mutants by upregulation of cilia-associated small GTPases. Journal of Cell Science. 134(14):
Leventea, E., Zhu, Z., Fang, X., Nikolaeva, Y., Markham, E., Hirst, R.A., van Eeden, F.J.M., Malicki, J.J. (2021) Ciliopathy genes are required for apical secretion of Cochlin, an otolith crystallization factor. Proceedings of the National Academy of Sciences of the United States of America. 118(28):
Zhu, P., Qiu, Q., Harris, P.C., Xu, X., Lin, X. (2021)
mtor
Haploinsufficiency Ameliorates Renal Cysts and Cilia Abnormality in Adult Zebrafish
tmem67
Mutants. Journal of the American Society of Nephrology : JASN. 32(4):822-836
Wang, X., Shan, X., Gregory-Evans, K., Gregory-Evans, C.Y. (2020) RNA-based therapies in animal models of Leber congenital amaurosis causing blindness. Precision clinical medicine. 3:113-126
Lessieur, E.M., Song, P., Nivar, G.C., Piccillo, E.M., Fogerty, J., Rozic, R., Perkins, B.D. (2019) Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish. PLoS One. 14:e0213960
Bergboer, J.G.M., Wyatt, C., Austin-Tse, C., Yaksi, E., Drummond, I.A. (2018) Assaying sensory ciliopathies using calcium biosensor expression in zebrafish ciliated olfactory neurons. Cilia. 7:2
Unal Eroglu, A., Mulligan, T.S., Zhang, L., White, D.T., Sengupta, S., Nie, C., Lu, N.Y., Qian, J., Xu, L., Pei, W., Burgess, S.M., Saxena, M.T., Mumm, J.S. (2018) Multiplexed CRISPR/Cas9 Targeting of Genes Implicated in Retinal Regeneration and Degeneration. Frontiers in cell and developmental biology. 6:88
Lessieur, E.M., Fogerty, J., Gaivin, R.J., Song, P., Perkins, B.D. (2017) The Ciliopathy Gene ahi1 Is Required for Zebrafish Cone Photoreceptor Outer Segment Morphogenesis and Survival. Investigative ophthalmology & visual science. 58:448-460
Lindstrand, A., Frangakis, S., Carvalho, C.M., Richardson, E.B., McFadden, K.A., Willer, J.R., Pehlivan, D., Liu, P., Pediaditakis, I.L., Sabo, A., Lewis, R.A., Banin, E., Lupski, J.R., Davis, E.E., Katsanis, N. (2016) Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome. American journal of human genetics. 99:318-336
Stawicki, T.M., Hernandez, L., Esterberg, R., Linbo, T., Owens, K.N., Shah, A.N., Thapa, N., Roberts, B., Moens, C.B., Rubel, E.W., Raible, D.W. (2016) Cilia-Associated Genes Play Differing Roles in Aminoglycoside-Induced Hair Cell Death in Zebrafish. G3 (Bethesda). 6(7):2225-35
Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
Kok, F.O., Shin, M., Ni, C., Gupta, A., Grosse, A.S., van Impel, A., Kirchmaier, B.C., Peterson-Maduro, J., Kourkoulis, G., Male, I., DeSantis, D.F., Sheppard-Tindell, S., Ebarasi, L., Betsholtz, C., Schulte-Merker, S., Wolfe, S.A., Lawson, N.D. (2015) Reverse Genetic Screening Reveals Poor Correlation between Morpholino-Induced and Mutant Phenotypes in Zebrafish. Developmental Cell. 32(1):97-108
Migliavacca, E., Golzio, C., Männik, K., Blumenthal, I., Oh, E.C., Harewood, L., Kosmicki, J.A., Loviglio, M.N., Giannuzzi, G., Hippolyte, L., Maillard, A.M., Alfaiz, A.A., 16p11.2 European Consortium, van Haelst, M.M., Andrieux, J., Gusella, J.F., Daly, M.J., Beckmann, J.S., Jacquemont, S., Talkowski, M.E., Katsanis, N., Reymond, A. (2015) A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology. American journal of human genetics. 96(5):784-96
Slaats, G.G., Saldivar, J.C., Bacal, J., Zeman, M.K., Kile, A.C., Hynes, A.M., Srivastava, S., Nazmutdinova, J., Ouden, K.D., Zagers, M.S., Foletto, V., Verhaar, M.C., Miles, C., Sayer, J.A., Cimprich, K.A., Giles, R.H. (2015) DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome. The Journal of Clinical Investigation. 125(9):3657-66
Rachel, R.A., May-Simera, H.L., Veleri, S., Gotoh, N., Choi, B.Y., Murga-Zamalloa, C., McIntyre, J.C., Marek, J., Lopez, I., Hackett, A.N., Brooks, M., den Hollander, A.I., Beales, P.L., Li, T., Jacobson, S.G., Sood, R., Martens, J.R., Liu, P., Friedman, T.B., Khanna, H., Koenekoop, R.K., Kelley, M.W., and Swaroop, A. (2012) Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J. Clin. Invest.. 122(4):1233-1245
Baye, L.M., Patrinostro, X., Swaminathan, S., Beck, J.S., Zhang, Y., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2011) The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness. Human molecular genetics. 20(8):1467-77
Davis, E.E., Zhang, Q., Liu, Q., Diplas, B.H., Davey, L.M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C.V., Muzny, D.M., Young, A.C., Wheeler, D.A., Cruz, P., Morgan, M., Lewis, L.R., Cherukuri, P., Maskeri, B., Hansen, N.F., Mullikin, J.C., Blakesley, R.W., Bouffard, G.G., NISC Comparative Sequencing Program, Gyapay, G., Rieger, S., Tönshoff, B., Kern, I., Soliman, N.A., Neuhaus, T.J., Swoboda, K.J., Kayserili, H., Gallagher, T.E., Lewis, R.A., Bergmann, C., Otto, E.A., Saunier, S., Scambler, P.J., Beales, P.L., Gleeson, J.G., Maher, E.R., Attié-Bitach, T., Dollfus, H., Johnson, C.A., Green, E.D., Gibbs, R.A., Hildebrandt, F., Pierce, E.A., Katsanis, N. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nature Genetics. 43(3):189-196
Murga-Zamalloa, C.A., Ghosh, A.K., Patil, S.B., Reed, N.A., Chan, L.S., Davuluri, S., Peranen, J., Hurd, T.W., Rachel, R.A., and Khanna, H. (2011) Accumulation of RAF-1 kinase inhibitory protein (RKIP) is associated with CEP290-mediated photoreceptor degeneration in ciliopathies. The Journal of biological chemistry. 286(32):28276-86
Gerner, M., Haribaskar, R., Pütz, M., Czerwitzki, J., Walz, G., and Schäfer, T. (2010) The retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) links RPGR to the nephronophthisis protein network. Kidney International. 77(10):891-896
Gorden, N.T., Arts, H.H., Parisi, M.A., Coene, K.L., Letteboer, S.J., van Beersum, S.E., Mans, D.A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A.F., Ozyurek, H., Dibooglu, S., Otto, E.A., Liu, Y., Davis, E.E., Hutter, C.M., Bammler, T.K., Farin, F.M., Dorschner, M., Topçu, M., Zackai, E.H., Rosenthal, P., Owens, K.N., Katsanis, N., Vincent, J.B., Hildebrandt, F., Rubel, E.W., Raible, D.W., Knoers, N.V., Chance, P.F., Roepman, R., Moens, C.B., Glass, I.A., and Doherty, D. (2008) CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290. American journal of human genetics. 83(5):559-571
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Additional Citations (28):
Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.
Busch-Nentwich, E., Kettleborough, R., Harvey, S., Collins, J., Ding, M., Dooley, C., Fenyes, F., Gibbons, R., Herd, C., Mehroke, S., Scahill, C., Sealy, I., Wali, N., White, R., and Stemple, D.L. (2012) Sanger Institute Zebrafish Mutation Project mutant, phenotype and image data submission. ZFIN Direct Data Submission.
Ensembl curators, GOA curators (2006) Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara. Manually curated data.
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
GOA curators, UniProt curators (2007) Gene Ontology annotation based on Swiss-Prot Subcellular Location vocabulary mapping. Manually curated data.
GOA, HGNC, AgBase and UniProtKB curators (2007) Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity. ZFIN Direct Data Submission.
Moens, C.B. and ZFIN Staff (2009) Curation of TILLING Database Links. ZFIN Direct Data Submission.
Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.
UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.
UniProt-GOA (2011) Gene Ontology annotation based on the manual assignment of UniProtKB Subcellular Location terms in UniProtKB/Swiss-Prot entries. Manually curated data.
Varshney, G.K., Zhang, S., Burgess, S.M., ZFIN Staff (2015) Automated Data Load From CRISPRz. ZFIN Direct Data Submission.
Zebrafish Nomenclature Committee (2003) Nomenclature Data Curation (2003-2010). Nomenclature Committee Submission.
Zebrafish Nomenclature Committee (2021) Nomenclature Data Curation (2021). Nomenclature Committee Submission.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2015) Data Model Change: Sequence Targeting Reagents Removed from Environment. ZFIN Historical Data.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2024) Association of Ensembl transcripts with ZFIN genes. Semi-automated Curation.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
ZFIN Staff (2013) Manually curated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Manually curated data.
ZFIN Staff (2007) Microarray Expression to Gene Association in ZFIN. Semi-automated Curation.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2024) Association of Ensembl transcripts with ZFIN genes. Semi-automated Curation.
ZFIN Staff (2023) Automated Curation of UniProt Database Links. Automated Data Submission.
Zebrafish Nomenclature Committee (2021) Nomenclature Data Curation (2021). Nomenclature Committee Submission.
ZFIN Staff (2020) Addition of links from ZFIN to Expression Atlas. Semi-automated Curation.
ZFIN Staff (2017) Curation of PANTHER Gene IDs. Automated Data Submission.
ZFIN Staff (2017) Curation of Alliance of Genome Resources Database Links. Automated Data Submission.
Varshney, G.K., Zhang, S., Burgess, S.M., ZFIN Staff (2015) Automated Data Load From CRISPRz. ZFIN Direct Data Submission.
ZFIN Staff (2015) Data Model Change: Sequence Targeting Reagents Removed from Environment. ZFIN Historical Data.
Busch-Nentwich, E., Kettleborough, R., Dooley, C. M., Scahill, C., Sealy, I., White, R., Herd, C., Mehroke, S., Wali, N., Carruthers, S., Hall, A., Collins, J., Gibbons, R., Pusztai, Z., Clark, R., and Stemple, D.L. (2013) Sanger Institute Zebrafish Mutation Project mutant data submission. ZFIN Direct Data Submission.
ZFIN Staff (2013) Manually curated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Manually curated data.
ZFIN Staff (2013) Semi-automated association of ENSDARG identifiers with ZFIN genes for the ZMP project. Semi-automated Curation.
Busch-Nentwich, E., Kettleborough, R., Harvey, S., Collins, J., Ding, M., Dooley, C., Fenyes, F., Gibbons, R., Herd, C., Mehroke, S., Scahill, C., Sealy, I., Wali, N., White, R., and Stemple, D.L. (2012) Sanger Institute Zebrafish Mutation Project mutant, phenotype and image data submission. ZFIN Direct Data Submission.
UniProt-GOA (2011) Gene Ontology annotation based on the manual assignment of UniProtKB Subcellular Location terms in UniProtKB/Swiss-Prot entries. Manually curated data.
UniProt-GOA (2011) Gene Ontology annotation based on the automatic assignment of UniProtKB Subcellular Location terms in UniProtKB/TrEMBL entries. Manually curated data.
Gaudet, P., Livstone, M., Thomas, P., The Reference Genome Project (2010) Annotation inferences using phylogenetic trees. Automated Data Submission.
Moens, C.B. and ZFIN Staff (2009) Curation of TILLING Database Links. ZFIN Direct Data Submission.
GOA curators, UniProt curators (2007) Gene Ontology annotation based on Swiss-Prot Subcellular Location vocabulary mapping. Manually curated data.
GOA, HGNC, AgBase and UniProtKB curators (2007) Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity. ZFIN Direct Data Submission.
ZFIN Staff (2007) Microarray Expression to Gene Association in ZFIN. Semi-automated Curation.
Ensembl curators, GOA curators (2006) Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara. Manually curated data.
ZFIN Staff (2006) Curation of Ensembl Database Links. Automated Data Submission.
Thisse, B., Thisse, C. (2004) Fast Release Clones: A High Throughput Expression Analysis. ZFIN Direct Data Submission.
Zebrafish Nomenclature Committee (2003) Nomenclature Data Curation (2003-2010). Nomenclature Committee Submission.
ZFIN Staff (2003) Curation of VEGA Database Links. Automated Data Submission.
ZFIN Staff (2003) Curation of orthology data. Manually curated data.
ZFIN Staff (2002) Gene Ontology Annotation Through Association of UniProt Keywords with GO Terms. Automated Data Submission.
ZFIN Staff (2002) Curation of NCBI Gene Data Via Shared RNA Sequence IDs. Automated Data Submission.
ZFIN Staff (2002) Scientific Curation. Manually curated data.
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