OBO ID: DOID:10584

OBO ID: DOID:10584

Citations

(44 total)

Gregory-Evans, C.Y., Joe, A.W., Gregory-Evans, K. (2025) Mutation of beta-tubulin 4B gene (TUBB4B) causes autosomal dominant retinitis pigmentosa with sensorineural hearing loss in a multigenerational family. Molecular Vision. 31:175188175-188

Han, S., Hu, Y., Jia, D., Lv, Y., Liu, M., Wang, D., Chao, J., Xia, X., Wang, Q., Liu, P., Cai, Y., Ren, X. (2024) IFT27 regulates the long-term maintenance of photoreceptor outer segments in zebrafish. Gene. 905:148237

Mirzaei, F., Eslahi, A., Karimi, S., Alizadeh, F., Salmaninejad, A., Rezaei, M., Mozaffari, S., Hamzehloei, T., Pasdar, A., Mojarrad, M. (2023) Generation of Zebrafish Models of Human Retinitis Pigmentosa Diseases Using CRISPR/Cas9-Mediated Gene Editing System. Molecular Biotechnology. 66(10):2909-2919

Stemerdink, M., Broekman, S., Peters, T., Kremer, H., de Vrieze, E., van Wijk, E. (2023) Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology. Cells. 12(12):

Ulhaq, Z.S., Okamoto, K., Ogino, Y., Fai Tse, W.K. (2023) Dysregulation of spliceosomes complex induces retinitis pigmentosa-like characteristics in sf3b4-depleted zebrafish. The American journal of pathology. 193(9):1223-1233

Liu, Y., Rittershaus, J.M., Yu, M., Sager, R., Hu, H. (2022) Deletion of POMT2 in Zebrafish Causes Degeneration of Photoreceptors. International Journal of Molecular Sciences. 23(23):

Crouzier, L., Diez, C., Richard, E.M., Cubedo, N., Barbereau, C., Rossel, M., Delaunay, T., Maurice, T., Delprat, B. (2021) Loss of Pde6a Induces Rod Outer Segment Shrinkage and Visual Alterations in pde6a^Q70X Mutant Zebrafish, a Relevant Model of Retinal Dystrophy. Frontiers in cell and developmental biology. 9:675517

Dulla, K., Slijkerman, R., van Diepen, H.C., Albert, S., Dona, M., Beumer, W., Turunen, J.J., Chan, H.L., Schulkens, I.A., Vorthoren, L., Besten, C.D., Buil, L., Schmidt, I., Miao, J., Venselaar, H., Zang, J., Neuhauss, S.C.F., Peters, T., Broekman, S., Pennings, R., Kremer, H., Platenburg, G., Adamson, P., de Vrieze, E., van Wijk, E. (2021) Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations. Molecular therapy : the journal of the American Society of Gene Therapy. 29(8):2441-2455

Ganzen, L., Ko, M.J., Zhang, M., Xie, R., Chen, Y., Zhang, L., James, R., Mumm, J., van Rijn, R.M., Zhong, W., Pang, C.P., Zhang, M., Tsujikawa, M., Leung, Y.F. (2021) Drug screening with zebrafish visual behavior identifies carvedilol as a potential treatment for an autosomal dominant form of retinitis pigmentosa. Scientific Reports. 11:11432

Li, X., Alhasani, R.H., Cao, Y., Zhou, X., He, Z., Zeng, Z., Strang, N., Shu, X. (2021) Gypenosides Alleviate Cone Cell Death in a Zebrafish Model of Retinitis Pigmentosa. Antioxidants (Basel, Switzerland). 10(7):

Nishiguchi, K.M., Miya, F., Mori, Y., Fujita, K., Akiyama, M., Kamatani, T., Koyanagi, Y., Sato, K., Takigawa, T., Ueno, S., Tsugita, M., Kunikata, H., Cisarova, K., Nishino, J., Murakami, A., Abe, T., Momozawa, Y., Terasaki, H., Wada, Y., Sonoda, K.H., Rivolta, C., Tsunoda, T., Tsujikawa, M., Ikeda, Y., Nakazawa, T. (2021) A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa. Communications biology. 4:140

Schellens, R., de Vrieze, E., Graave, P., Broekman, S., Nagel-Wolfrum, K., Peters, T., Kremer, H., Collin, R.W.J., van Wijk, E. (2021) Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa. International Journal of Molecular Sciences. 22(17):

Schlegel, D.K., Ramkumar, S., von Lintig, J., Neuhauss, S.C. (2021) Disturbed retinoid metabolism upon loss of rlbp1a impairs cone function and leads to subretinal lipid deposits and photoreceptor degeneration in the zebrafish retina. eLIFE. 10:

Zhang, L., Chen, C., Fu, J., Lilley, B., Berlinicke, C., Hansen, B., Ding, D., Wang, G., Wang, T., Shou, D., Ye, Y., Mulligan, T., Emmerich, K., Saxena, M.T., Hall, K.R., Sharrock, A.V., Brandon, C., Park, H., Kam, T.I., Dawson, V.L., Dawson, T.M., Shim, J.S., Hanes, J., Ji, H., Liu, J.O., Qian, J., Ackerley, D.F., Rohrer, B., Zack, D.J., Mumm, J.S. (2021) Large-scale phenotypic drug screen identifies neuroprotectants in zebrafish and mouse models of retinitis pigmentosa. eLIFE. 10:

Zhang, T., Bai, J., Zhang, X., Zheng, X., Lu, N., Liang, Z., Lin, L., Chen, Y. (2021) SNRNP200 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Frontiers in medicine. 7:588991

Alhasani, R.H., Zhou, X., Biswas, L., Li, X., Reilly, J., Zeng, Z., Shu, X. (2020) Gypenosides attenuate retinal degeneration in a zebrafish retinitis pigmentosa model. Experimental Eye Research. 201:108291

Santhanam, A., Shihabeddin, E., Atkinson, J.A., Nguyen, D., Lin, Y.P., O'Brien, J. (2020) A Zebrafish Model of Retinitis Pigmentosa Shows Continuous Degeneration and Regeneration of Rod Photoreceptors. Cells. 9(10):

Yi, Z., Ouyang, J., Sun, W., Li, S., Xiao, X., Zhang, Q. (2020) Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa. EBioMedicine. 56:102792

Fu, J., Nagashima, M., Guo, C., Raymond, P.A., Wei, X. (2018) Novel Animal Model of Crumbs-Dependent Progressive Retinal Degeneration That Targets Specific Cone Subtypes. Investigative ophthalmology & visual science. 59:505-518

Li, L., Jiao, X., D'Atri, I., Ono, F., Nelson, R., Chan, C.C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B.A., Hardy, H., Arno, G., Hull, S., Khan, M.I., Fasham, J., Harlalka, G.V., Michaelides, M., Moore, A.T., Coban Akdemir, Z.H., Jhangiani, S., Lupski, J.R., Cremers, F.P.M., Qamar, R., Salman, A., Chilton, J., Self, J., Ayyagari, R., Kabir, F., Naeem, M.A., Ali, M., Akram, J., Sieving, P.A., Riazuddin, S., Baple, E.L., Riazuddin, S.A., Crosby, A.H., Hejtmancik, J.F. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genetics. 14:e1007504

Oura, Y., Nakamura, M., Takigawa, T., Fukushima, Y., Wakabayashi, T., Tsujikawa, M., Nishida, K. (2018) High Temperature Requirement A 1 (HTRA1) Causes Photoreceptor Cell Death in Zebrafish Disease Models. The American journal of pathology. 188(12):2729-2744

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

Zelinka, C.P., Sotolongo-Lopez, M., Fadool, J.M. (2018) Targeted disruption of the endogenous zebrafish rhodopsin locus as models of rapid rod photoreceptor degeneration.. Molecular Vision. 24:587-602

Blanco-Sánchez, B., Clément, A., Phillips, J.B., Westerfield, M. (2017) Zebrafish models of human eye and inner ear diseases. Methods in cell biology. 138:415-467

Lu, Z., Hu, X., Liu, F., Soares, D.C., Liu, X., Yu, S., Gao, M., Han, S., Qin, Y., Li, C., Jiang, T., Luo, D., Guo, A.Y., Tang, Z., Liu, M. (2017) Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy. Scientific Reports. 7:46098

Weisz Hubshman, M., Broekman, S., van Wijk, E., Cremers, F., Abu-Diab, A., Samer, K., Tzur, S., Lagovsky, I., Smirin-Yosef, P., Sharon, D., Haer-Wigman, L., Banin, E., Basel-Vanagaite, L., de Vrieze, E. (2017) Whole-exome sequencing reveals POC5 as a novel gene associated with autosomal recessive retinitis pigmentosa. Human molecular genetics. 27(4):614-624

Gao, M., Zhang, S., Liu, C., Qin, Y., Archacki, S., Jin, L., Wang, Y., Liu, F., Chen, J., Liu, Y., Wang, J., Huang, M., Liao, S., Tang, Z., Guo, A.Y., Jiang, F., Liu, M. (2016) Whole exome sequencing identifies a novel NRL mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Molecular Vision. 22:234-42

Yu, M., Liu, Y., Li, J., Natale, B.N., Cao, S., Wang, D., Amack, J.D., Hu, H. (2016) Eyes shut homolog is required for maintaining the ciliary pocket and survival of photoreceptors in zebrafish. Biology Open. 5(11):1662-1673

Zhang, J., Wang, C., Shen, Y., Chen, N., Wang, L., Liang, L., Guo, T., Yin, X., Ma, Z., Zhang, B., Yang, L. (2016) A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa. Human genetics. 135(12):1375-1387

Link, B.A., Collery, R.F. (2015) Zebrafish Models of Retinal Disease. Annual review of vision science. 1:125-153

Liu, F., Chen, J., Yu, S., Raghupathy, R.K., Liu, X., Qin, Y., Li, C., Huang, M., Liao, S., Wang, J., Zou, J., Shu, X., Tang, Z., Liu, M. (2015) Knockout of RP2 decreases GRK1 and rod transducin subunits and leads to photoreceptor degeneration in zebrafish. Human molecular genetics. 24(16):4648-59

Liu, Y., Chen, X., Qin, B., Zhao, K., Zhao, Q., Staley, J.P., Zhao, C. (2015) Knocking Down Snrnp200 Initiates Demorphogenesis of Rod Photoreceptors in Zebrafish. Journal of ophthalmology. 2015:816329

Liu, Y., Chen, X., Xu, Q., Gao, X., Tam, P.O., Zhao, K., Zhang, X., Chen, L.J., Jia, W., Zhao, Q., Vollrath, D., Pang, C.P., Zhao, C. (2015) SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa. Scientific Reports. 5:14867

Jin, Z.B., Huang, X.F., Lv, J.N., Xiang, L., Li, D.Q., Chen, J., Huang, C., Wu, J., Lu, F., Qu, J. (2014) SLC7A14 linked to autosomal recessive retinitis pigmentosa. Nature communications. 5:3517

Linder, B., Hirmer, A., Gal, A., Rüther, K., Bolz, H.J., Winkler, C., Laggerbauer, B., Fischer, U. (2014) Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa. PLoS One. 9:e111754

Wen, R., Dallman, J.E., Li, Y., Züchner, S.L., Vance, J.M., Peričak-Vance, M.A., Lam, B.L. (2014) Knock-Down DHDDS Expression Induces Photoreceptor Degeneration in Zebrafish. Advances in experimental medicine and biology. 801:543-50

Nishiguchi, K.M., Tearle, R.G., Liu, Y.P., Oh, E.C., Miyake, N., Benaglio, P., Harper, S., Koskiniemi-Kuendig, H., Venturini, G., Sharon, D., Koenekoop, R.K., Nakamura, M., Kondo, M., Ueno, S., Yasuma, T.R., Beckmann, J.S., Ikegawa, S., Matsumoto, N., Terasaki, H., Berson, E.L., Katsanis, N., and Rivolta, C. (2013) Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. Proceedings of the National Academy of Sciences of the United States of America. 110(40):16139-16144

Linder, B., Dill, H., Hirmer, A., Brocher, J., Lee, G.P., Mathavan, S., Bolz, H.J., Winkler, C., Laggerbauer, B., and Fischer, U. (2011) Systemic splicing factor deficiency causes tissue-specific defects: A zebrafish model for Retinitis pigmentosa. Human molecular genetics. 20(2):368-377

Patil, S.B., Hurd, T.W., Ghosh, A.K., Murga-Zamalloa, C.A., and Khanna, H. (2011) Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants. PLoS One. 6(6):e21379

Yin, J., Brocher, J., Fischer, U., and Winkler, C. (2011) Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. Molecular neurodegeneration. 6(1):56

Zuchner, S., Dallman, J., Wen, R., Beecham, G., Naj, A., Farooq, A., Kohli, M.A., Whitehead, P.L., Hulme, W., Konidari, I., Edwards, Y.J., Cai, G., Peter, I., Seo, D., Buxbaum, J.D., Haines, J.L., Blanton, S., Young, J., Alfonso, E., Vance, J.M., Lam, B.L., and Periak-Vance, M.A. (2011) Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis Pigmentosa. American journal of human genetics. 88(2):201-206

Li, L., Nakaya, N., Chavali, V.R., Ma, Z., Jiao, X., Sieving, P.A., Riazuddin, S., Tomarev, S.I., Ayyagari, R., Riazuddin, S.A., and Hejtmancik, J.F. (2010) A Mutation in ZNF513, a Putative Regulator of Photoreceptor Development, Causes Autosomal-Recessive Retinitis Pigmentosa. American journal of human genetics. 87(3):400-409

Nishimura, D.Y., Baye, L.M., Perveen, R., Searby, C.C., Avila-Fernandez, A., Pereiro, I., Ayuso, C., Valverde, D., Bishop, P.N., Manson, F.D., Urquhart, J., Stone, E.M., Slusarski, D.C., Black, G.C., and Sheffield, V.C. (2010) Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71. American journal of human genetics. 86(5):686-695

Pretorius, P.R., Baye, L.M., Nishimura, D.Y., Searby, C.C., Bugge, K., Yang, B., Mullins, R.F., Stone, E.M., Sheffield, V.C., and Slusarski, D.C. (2010) Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform. PLoS Genetics. 6(3):e1000884