TY - JOUR AU - Kaiserman, N. AU - Obolensky, A. AU - Banin, E. AU - Sharon, D. PY - 2007 DA - 2007// TI - Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2 JO - Arch Ophthalmol VL - 125 UR - https://doi.org/10.1001/archopht.125.2.219 DO - 10.1001/archopht.125.2.219 ID - Kaiserman2007 ER - TY - JOUR AU - Liu, X. AU - Tang, Z. AU - Li, C. AU - Yang, K. AU - Gan, G. AU - Zhang, Z. AU - Liu, J. AU - Jiang, F. AU - Wang, Q. AU - Liu, M. PY - 2010 DA - 2010// TI - Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family JO - Mol Vis VL - 16 UR - https://doi.org/10.1167/3.9.454 DO - 10.1167/3.9.454 ID - Liu2010 ER - TY - JOUR AU - McGee, T. L. AU - Seyedahmadi, B. J. AU - Sweeney, M. O. AU - Dryja, T. P. AU - Berson, E. L. PY - 2010 DA - 2010// TI - Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa JO - J Med Genet VL - 47 UR - https://doi.org/10.1136/jmg.2009.075143 DO - 10.1136/jmg.2009.075143 ID - McGee2010 ER - TY - JOUR AU - Rivolta, C. AU - Sweklo, E. A. AU - Berson, E. L. AU - Dryja, T. P. PY - 2000 DA - 2000// TI - Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss JO - Am J Hum Genet VL - 66 UR - https://doi.org/10.1086/302926 DO - 10.1086/302926 ID - Rivolta2000 ER - TY - JOUR AU - Smith, R. J. AU - Berlin, C. I. AU - Hejtmancik, J. F. AU - Keats, B. J. AU - Kimberling, W. J. AU - Lewis, R. A. AU - Moller, C. G. AU - Pelias, M. Z. AU - Tranebjaerg, L. PY - 1994 DA - 1994// TI - Clinical diagnosis of the Usher syndromes. Usher Syndrome Consortium JO - Am J Med Genet VL - 50 UR - https://doi.org/10.1002/ajmg.1320500107 DO - 10.1002/ajmg.1320500107 ID - Smith1994 ER - TY - JOUR AU - Hartong, D. T. AU - Berson, E. L. AU - Dryja, T. P. PY - 2006 DA - 2006// TI - Retinitis pigmentosa JO - Lancet VL - 368 UR - https://doi.org/10.1016/S0140-6736(06)69740-7 DO - 10.1016/S0140-6736(06)69740-7 ID - Hartong2006 ER - TY - JOUR AU - Cohen, M. AU - Bitner-Glindzicz, M. AU - Luxon, L. PY - 2007 DA - 2007// TI - The changing face of Usher syndrome: clinical implications JO - Int J Audiol VL - 46 UR - https://doi.org/10.1080/14992020600975279 DO - 10.1080/14992020600975279 ID - Cohen2007 ER - TY - JOUR AU - Adato, A. AU - Michel, V. AU - Kikkawa, Y. AU - Reiners, J. AU - Alagramam, K. N. AU - Weil, D. AU - Yonekawa, H. AU - Wolfrum, U. AU - El Amraoui, A. AU - Petit, C. PY - 2005 DA - 2005// TI - Interactions in the network of Usher syndrome type 1 proteins JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi031 DO - 10.1093/hmg/ddi031 ID - Adato2005 ER - TY - JOUR AU - Kremer, H. AU - van Wijk, E. AU - Marker, T. AU - Wolfrum, U. AU - Roepman, R. PY - 2006 DA - 2006// TI - Usher syndrome: molecular links of pathogenesis, proteins and pathways JO - Hum Mol Genet VL - 15 UR - https://doi.org/10.1093/hmg/ddl205 DO - 10.1093/hmg/ddl205 ID - Kremer2006 ER - TY - JOUR AU - Maerker, T. AU - van Wijk, E. AU - Overlack, N. AU - Kersten, F. F. J. AU - McGee, J. AU - Goldmann, T. AU - Sehn, E. AU - Roepman, R. AU - Walsh, E. J. AU - Kremer, H. AU - Wolfrum, U. PY - 2008 DA - 2008// TI - A novel Usher protein network at the periciliary reloading point between molecular transport machineries in vertebrate photoreceptor cells JO - Hum Mol Genet VL - 17 UR - https://doi.org/10.1093/hmg/ddm285 DO - 10.1093/hmg/ddm285 ID - Maerker2008 ER - TY - JOUR AU - Reiners, J. AU - van Wijk, E. AU - Maerker, T. AU - Zimmermann, U. AU - Jurgens, K. AU - te Brinke, H. AU - Overlack, N. AU - Roepman, R. AU - Knipper, M. AU - Kremer, H. AU - Wolfrum, U. PY - 2005 DA - 2005// TI - Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2 JO - Hum Mol Genet VL - 14 UR - https://doi.org/10.1093/hmg/ddi417 DO - 10.1093/hmg/ddi417 ID - Reiners2005 ER - TY - JOUR AU - van Wijk, E. AU - van der Zwaag, B. AU - Peters, T. A. AU - Zimmermann, U. AU - te Brinke, H. AU - Kersten, F. F. J. AU - Maerker, T. AU - Aller, E. AU - Hoefsloot, L. H. AU - Cremers, C. W. R. J. AU - Cremers, F. P. M. AU - Wolfrum, U. AU - Knipper, M. AU - Roepman, R. AU - Kremer, H. PY - 2006 DA - 2006// TI - The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1 JO - Hum Mol Genet VL - 15 UR - https://doi.org/10.1093/hmg/ddi490 DO - 10.1093/hmg/ddi490 ID - van Wijk2006 ER - TY - JOUR AU - Van Wijk, E. AU - Kersten, F. F. J. AU - Kartono, A. AU - Mans, D. A. AU - Brandwijk, K. AU - Letteboer, S. J. F. AU - Peters, T. A. AU - Maerker, T. AU - Yan, X. AU - Cremers, C. W. R. J. AU - Cremers, F. P. M. AU - Wolfrum, U. AU - Roepman, R. AU - Kremer, H. PY - 2009 DA - 2009// TI - Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein JO - Hum Mol Genet VL - 18 UR - https://doi.org/10.1093/hmg/ddn312 DO - 10.1093/hmg/ddn312 ID - Van Wijk2009 ER - TY - JOUR AU - Sedmak, T. AU - Wolfrum, U. PY - 2010 DA - 2010// TI - Intraflagellar transport molecules in ciliary and nonciliary cells of the retina JO - J Cell Biol VL - 189 UR - https://doi.org/10.1083/jcb.200911095 DO - 10.1083/jcb.200911095 ID - Sedmak2010 ER - TY - JOUR AU - Mack, G. J. AU - Compton, D. A. PY - 2001 DA - 2001// TI - Analysis of mitotic microtubule-associated proteins using mass spectrometry identifies astrin, a spindle-associated protein JO - Proc Natl Acad Sci USA VL - 98 UR - https://doi.org/10.1073/pnas.261371298 DO - 10.1073/pnas.261371298 ID - Mack2001 ER - TY - JOUR AU - Thein, K. H. AU - Kleylein-Sohn, J. AU - Nigg, E. A. AU - Gruneberg, U. PY - 2007 DA - 2007// TI - Astrin is required for the maintenance of sister chromatid cohesion and centrosome integrity JO - J Cell Biol VL - 178 UR - https://doi.org/10.1083/jcb.200701163 DO - 10.1083/jcb.200701163 ID - Thein2007 ER - TY - JOUR AU - Cheng, T. S. AU - Hsiao, Y. L. AU - Lin, C. C. AU - Hsu, C. M. AU - Chang, M. S. AU - Lee, C. I. AU - Yu, R. C. AU - Huang, C. Y. AU - Howng, S. L. AU - Hong, Y. R. PY - 2007 DA - 2007// TI - hNinein is required for targeting spindle-associated protein Astrin to the centrosome during the S and G2 phases JO - Exp Cell Res VL - 313 UR - https://doi.org/10.1016/j.yexcr.2007.02.023 DO - 10.1016/j.yexcr.2007.02.023 ID - Cheng2007 ER - TY - JOUR AU - Wolfrum, U. AU - Salisbury, J. L. PY - 1998 DA - 1998// TI - Expression of centrin isoforms in the mammalian retina JO - Exp Cell Res VL - 242 UR - https://doi.org/10.1006/excr.1998.4038 DO - 10.1006/excr.1998.4038 ID - Wolfrum1998 ER - TY - JOUR AU - Chang, M. S. AU - Huang, C. J. AU - Chen, M. L. AU - Chen, S. T. AU - Fan, C. C. AU - Chu, J. M. AU - Lin, W. C. AU - Yang, Y. C. PY - 2001 DA - 2001// TI - Cloning and characterization of hMAP126, a new member of mitotic spindle-associated proteins JO - Biochem Biophys Res Commun VL - 287 UR - https://doi.org/10.1006/bbrc.2001.5554 DO - 10.1006/bbrc.2001.5554 ID - Chang2001 ER - TY - JOUR AU - Gruber, J. AU - Harborth, J. AU - Schnabel, J. AU - Weber, K. AU - Hatzfeld, M. PY - 2002 DA - 2002// TI - The mitotic-spindle-associated protein astrin is essential for progression through mitosis JO - J Cell Sci VL - 115 UR - https://doi.org/10.1242/jcs.00088 DO - 10.1242/jcs.00088 ID - Gruber2002 ER - TY - JOUR AU - Du, J. AU - Jablonski, S. AU - Yen, T. J. AU - Hannon, G. J. PY - 2008 DA - 2008// TI - Astrin regulates Aurora-A localization JO - Biochem Biophys Res Commun VL - 370 UR - https://doi.org/10.1016/j.bbrc.2008.03.072 DO - 10.1016/j.bbrc.2008.03.072 ID - Du2008 ER - TY - JOUR AU - Casenghi, M. AU - Meraldi, P. AU - Weinhart, U. AU - Duncan, P. I. AU - Korner, R. AU - Nigg, E. A. PY - 2003 DA - 2003// TI - Polo-like kinase 1 regulates Nlp, a centrosome protein involved in microtubule nucleation JO - Dev Cell VL - 5 UR - https://doi.org/10.1016/S1534-5807(03)00193-X DO - 10.1016/S1534-5807(03)00193-X ID - Casenghi2003 ER - TY - JOUR AU - Casenghi, M. AU - Barr, F. A. AU - Nigg, E. A. PY - 2005 DA - 2005// TI - Phosphorylation of Nlp by Plk1 negatively regulates its dynein-dynactin-dependent targeting to the centrosome JO - J Cell Sci VL - 118 UR - https://doi.org/10.1242/jcs.02622 DO - 10.1242/jcs.02622 ID - Casenghi2005 ER - TY - JOUR AU - Rapley, J. AU - Baxter, J. E. AU - Blot, J. AU - Wattam, S. L. AU - Casenghi, M. AU - Meraldi, P. AU - Nigg, E. A. AU - Fry, A. M. PY - 2005 DA - 2005// TI - Coordinate regulation of the mother centriole component nlp by nek2 and plk1 protein kinases JO - Mol Cell Biol VL - 25 UR - https://doi.org/10.1128/MCB.25.4.1309-1324.2005 DO - 10.1128/MCB.25.4.1309-1324.2005 ID - Rapley2005 ER - TY - JOUR AU - Yan, J. AU - Jin, S. AU - Li, J. AU - Zhan, Q. PY - 2010 DA - 2010// TI - Aurora B Interaction of Centrosomal Nlp Regulates Cytokinesis JO - J Biol Chem VL - 285 UR - https://doi.org/10.1074/jbc.M110.140541 DO - 10.1074/jbc.M110.140541 ID - Yan2010 ER - TY - JOUR AU - Yang, Y. C. AU - Hsu, Y. T. AU - Wu, C. C. AU - Chen, H. T. AU - Chang, M. S. PY - 2006 DA - 2006// TI - Silencing of astrin induces the p53-dependent apoptosis by suppression of HPV18 E6 expression and sensitizes cells to paclitaxel treatment in HeLa cells JO - Biochem Biophys Res Commun VL - 343 UR - https://doi.org/10.1016/j.bbrc.2006.02.166 DO - 10.1016/j.bbrc.2006.02.166 ID - Yang2006 ER - TY - JOUR AU - Shao, S. AU - Liu, R. AU - Wang, Y. AU - Song, Y. AU - Zuo, L. AU - Xue, L. AU - Lu, N. AU - Hou, N. AU - Wang, M. AU - Yang, X. AU - Zhan, Q. PY - 2010 DA - 2010// TI - Centrosomal Nlp is an oncogenic protein that is gene-amplified in human tumors and causes spontaneous tumorigenesis in transgenic mice JO - J Clin Invest VL - 120 UR - https://doi.org/10.1172/JCI39447 DO - 10.1172/JCI39447 ID - Shao2010 ER - TY - JOUR AU - Wang, Y. AU - Zhan, Q. PY - 2007 DA - 2007// TI - Cell cycle-dependent expression of centrosomal ninein-like protein in human cells is regulated by the anaphase-promoting complex JO - J Biol Chem VL - 282 UR - https://doi.org/10.1074/jbc.M701350200 DO - 10.1074/jbc.M701350200 ID - Wang2007 ER - TY - JOUR AU - Christensen, S. T. AU - Pedersen, L. B. AU - Schneider, L. AU - Satir, P. PY - 2007 DA - 2007// TI - Sensory cilia and integration of signal transduction in human health and disease JO - Traffic VL - 8 UR - https://doi.org/10.1111/j.1600-0854.2006.00516.x DO - 10.1111/j.1600-0854.2006.00516.x ID - Christensen2007 ER - TY - JOUR AU - Singla, V. AU - Reiter, J. F. PY - 2006 DA - 2006// TI - The primary cilium as the cell's antenna: signaling at a sensory organelle JO - Science VL - 313 UR - https://doi.org/10.1126/science.1124534 DO - 10.1126/science.1124534 ID - Singla2006 ER - TY - JOUR AU - Quarmby, L. M. AU - Parker, J. D. PY - 2005 DA - 2005// TI - Cilia and the cell cycle? JO - J Cell Biol VL - 169 UR - https://doi.org/10.1083/jcb.200503053 DO - 10.1083/jcb.200503053 ID - Quarmby2005 ER - TY - JOUR AU - Smith, K. R. AU - Kieserman, E. K. AU - Wang, P. I. AU - Basten, S. G. AU - Giles, R. H. AU - Marcotte, E. M. AU - Wallingford, J. B. PY - 2011 DA - 2011// TI - A role for central spindle proteins in cilia structure and function JO - Cytoskeleton (Hoboken) VL - 68 UR - https://doi.org/10.1002/cm.20498 DO - 10.1002/cm.20498 ID - Smith2011 ER - TY - JOUR AU - Liu, Q. AU - Tan, G. AU - Levenkova, N. AU - Li, T. AU - Pugh, E. N. AU - Rux, J. J. AU - Speicher, D. W. AU - Pierce, E. A. PY - 2007 DA - 2007// TI - The proteome of the mouse photoreceptor sensory cilium complex JO - Mol Cell Proteomics VL - 6 UR - https://doi.org/10.1074/mcp.M700054-MCP200 DO - 10.1074/mcp.M700054-MCP200 ID - Liu2007 ER - TY - JOUR AU - Roepman, R. AU - Wolfrum, U. PY - 2007 DA - 2007// TI - Protein networks and complexes in photoreceptor cilia JO - Subcell Biochem VL - 43 UR - https://doi.org/10.1007/978-1-4020-5943-8_10 DO - 10.1007/978-1-4020-5943-8_10 ID - Roepman2007 ER - TY - JOUR AU - Wolfrum, U. AU - Schmitt, A. PY - 2000 DA - 2000// TI - Rhodopsin transport in the membrane of the connecting cilium of mammalian photoreceptor cells JO - Cell Motil Cytoskeleton VL - 46 UR - https://doi.org/3.0.CO;2-Q DO - 3.0.CO;2-Q ID - Wolfrum2000 ER - TY - JOUR AU - Liu, X. AU - Bulgakov, O. V. AU - Darrow, K. N. AU - Pawlyk, B. AU - Adamian, M. AU - Liberman, M. C. AU - Li, T. PY - 2007 DA - 2007// TI - Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells JO - Proc Natl Acad Sci USA VL - 104 UR - https://doi.org/10.1073/pnas.0610950104 DO - 10.1073/pnas.0610950104 ID - Liu2007 ER - TY - JOUR AU - Papermaster, D. S. PY - 2002 DA - 2002// TI - The birth and death of photoreceptors: the Friedenwald Lecture JO - Invest Ophthalmol Vis Sci VL - 43 ID - Papermaster2002 ER - TY - JOUR AU - Famulski, J. K. AU - Vos, L. J. AU - Rattner, J. B. AU - Chan, G. K. PY - 2011 DA - 2011// TI - Dynein/dynactin-mediated transport of kinetochore components off kinetochores and onto spindle poles induced by nordihydroguaiaretic acid JO - PLoS One VL - 6 UR - https://doi.org/10.1371/journal.pone.0016494 DO - 10.1371/journal.pone.0016494 ID - Famulski2011 ER - TY - JOUR AU - Zallocchi, M. AU - Sisson, J. H. AU - Cosgrove, D. PY - 2010 DA - 2010// TI - Biochemical characterization of native Usher protein complexes from a vesicular subfraction of tracheal epithelial cells JO - Biochemistry VL - 49 UR - https://doi.org/10.1021/bi9020617 DO - 10.1021/bi9020617 ID - Zallocchi2010 ER - TY - JOUR AU - Xue, J. AU - Tarnasky, H. A. AU - Rancourt, D. E. AU - van der Hoorn, F. A. PY - 2002 DA - 2002// TI - Targeted disruption of the testicular SPAG5/deepest protein does not affect spermatogenesis or fertility JO - Mol Cell Biol VL - 22 UR - https://doi.org/10.1128/MCB.22.7.1993-1997.2002 DO - 10.1128/MCB.22.7.1993-1997.2002 ID - Xue2002 ER - TY - JOUR AU - Suzuki, H. AU - Yagi, M. AU - Suzuki, K. PY - 2006 DA - 2006// TI - Duplicated insertion mutation in the microtubule-associated protein Spag5 (astrin/MAP126) and defective proliferation of immature Sertoli cells in rat hypogonadic (hgn/hgn) testes JO - Reproduction VL - 132 UR - https://doi.org/10.1530/rep.1.01104 DO - 10.1530/rep.1.01104 ID - Suzuki2006 ER - TY - JOUR AU - Suzuki, H. AU - Yagi, M. AU - Saito, K. AU - Suzuki, K. PY - 2007 DA - 2007// TI - Embryonic pathogenesis of hypogonadism and renal hypoplasia in hgn/hgn rats characterized by male sterility, reduced female fertility and progressive renal insufficiency JO - Congenit Anom (Kyoto) VL - 47 UR - https://doi.org/10.1111/j.1741-4520.2006.00138.x DO - 10.1111/j.1741-4520.2006.00138.x ID - Suzuki2007 ER - TY - JOUR AU - Suzuki, H. AU - Tokuriki, T. AU - Saito, K. AU - Hishida, A. AU - Suzuki, K. PY - 2005 DA - 2005// TI - Glomerular hyperfiltration and hypertrophy in the rat hypoplastic kidney as a model of oligomeganephronic disease JO - Nephrol Dial Transplant VL - 20 UR - https://doi.org/10.1093/ndt/gfh782 DO - 10.1093/ndt/gfh782 ID - Suzuki2005 ER - TY - JOUR AU - Suzuki, H. AU - Tokuriki, T. AU - Kamita, H. AU - Oota, C. AU - Takasu, M. AU - Saito, K. AU - Suzuki, K. PY - 2006 DA - 2006// TI - Age-related pathophysiological changes in rat oligomeganephronic hypoplastic kidney JO - Pediatr Nephrol VL - 21 UR - https://doi.org/10.1007/s00467-006-0089-3 DO - 10.1007/s00467-006-0089-3 ID - Suzuki2006 ER - TY - JOUR AU - Janin-Mercier, A. AU - Palcoux, J. B. AU - Gubler, M. C. AU - de Latour, M. AU - Dalens, H. AU - Fonck, Y. PY - 1985 DA - 1985// TI - Oligomeganephronic renal hypoplasia with tapetoretinal degeneration. Report of one case with ultrastructural study of the renal biopsy JO - Virchows Arch A Pathol Anat Histopathol VL - 407 UR - https://doi.org/10.1007/BF00709994 DO - 10.1007/BF00709994 ID - Janin-Mercier1985 ER - TY - JOUR AU - Reiners, J. AU - Nagel-Wolfrum, K. AU - Jurgens, K. AU - Maerker, T. AU - Wolfrum, U. PY - 2006 DA - 2006// TI - Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease JO - Exp Eye Res VL - 83 UR - https://doi.org/10.1016/j.exer.2005.11.010 DO - 10.1016/j.exer.2005.11.010 ID - Reiners2006 ER - TY - JOUR AU - Roepman, R. AU - Schick, D. AU - Ferreira, P. A. PY - 2000 DA - 2000// TI - Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast JO - Methods Enzymol VL - 316 UR - https://doi.org/10.1016/S0076-6879(00)16757-6 DO - 10.1016/S0076-6879(00)16757-6 ID - Roepman2000 ER -