Results 131 to 140 of about 12,422 (262)
Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies [PDF]
, 2011 Carlos Murga‐Zamalloa, Amiya K. Ghosh, Suresh B. Patil, Nathan Reed, Lan Sze Chan, Supriya Davuluri, Johan Peränen, Toby W. Hurd, Rivka A. Rachel, Hemant Khanna +9 moreopenalex +1 more sourceErratum: Corrigendum: TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum [PDF]
, 2011 Erica E. Davis, Qi Zhang, Qin Liu, Bill H. Diplas, Lisa Davey, Jane Hartley, Corinne Stoetzel, Katarzyna Szymańska, Gokul Ramaswami, Clare V. Logan, Donna M. Muzny, Alice C. Young, David A. Wheeler, Pedro Cruz, Margaret Morgan, Lora Lewis, Praveen F. Cherukuri, Baishali Maskeri, Nancy F. Hansen, James C. Mullikin, Robert W. Blakesley, Gerard G. Bouffard, Gàbor Gyapay, Susanne Rieger, Burkhard Tönshoff, Ilse Kern, Neveen A. Soliman, Thomas J. Neuhaus, Kathryn J. Swoboda, Hülya Kayserili, Tomas E Gallagher, Richard A. Lewis, Carsten Bergmann, Edgar A. Otto, Sophie Saunier, Peter Scambler, Philip L. Beales, Joseph G. Gleeson, Eamonn R. Maher, Tania Attié‐Bitach, Hélène Dollfus, Colin A. Johnson, Eric D. Green, Richard A. Gibbs, Friedhelm Hildebrandt, Eric A. Pierce, Nicholas Katsanis +46 moreopenalex +1 more sourceThe \u3cem\u3eChlamydomonas\u3c/em\u3e Genome Reveals the Evolution of Key Animal and Plant Functions [PDF]
, 2007 Chlamydomonas reinhardtii is a unicellular green alga whose lineage diverged from land plants over 1 billion years ago. It is a model system for studying chloroplast-based photosynthesis, as well as the structure, assembly, and function of eukaryotic ...Abby Ngau, Wing Chi, Allmer, Jens, Balk, Janneke, Ball, Steven, Bisova, Katerina, Bowler, Chris, Brokstein, Peter, Cardol, Pierre, Cerutti, Heriberto, Chanfreau, Guillaume, Chen, Chong-Jian, Chen, Chun-Long, Cognat, Valerie, Croft, Martin T., Dent, Rachel, Dieckmann, Carol L., Dubchak, Inna, Dutcher, Susan, Elias, Mark, Fernández, Emilio, Ferris, Patrick, Fritz-Laylin, Lillian K., Fukuzawa, Hideya, Gendler, Karla, Gladyshev, Vadim N., González-Ballester, David, González-Halphen, Diego, Goodstein, David, Green, Pamela, Grigoriev, Igor V., Grimwood, Jane, Grossman, Arthur R., Hallmann, Armin, Hanikenne, Marc, Harris, Elizabeth H., Hauser, Charles, Hippler, Michael, Hornick, Leila, Huang, Y. Wayne, Inwood, William, Jabbari, Kamel, Jhaveri, Jinal, Jorgensen, Richard, Kalanon, Ming, Kapitonov, Vladimir V., Karpowicz, Steven J., Kuras, Richard, Lamb, Mary Rose, Ledford, Heidi, Lefebvre, Paul A., Lemaire, Stéphane D., Lindquist, Erika, Lobanov, Alexey V., Lohr, Martin, Long, Joanne C., Lucas, Susan M., Luo, Yigong, Manuell, Andrea, Marshall, Wallace F., Martinez, Diego, Maréchal-Drouard, Laurence, Mayfield, Stephen, Meier, Iris, Merchant, Sabeeha S., Mets, Laurens, Minagawa, Jun, Mittag, Maria, Mittelmeier, Telsa, Moroney, James V., Moseley, Jeffrey, Mueller-Roeber, Bernd, Napoli, Carolyn, Nedelcu, Aurora M., Nelson, David R., Niyogi, Krishna, Novoselov, Sergey V., Otillar, Bobby, Page, M. Dudley, Pan, Junmin, Paulsen, Ian T., Pazour, Greg, Poliakov, Alexander, Pootakham, Wirulda, Porter, Aaron, Prochnik, Simon E., Purton, Saul, Qu, Liang-Hu, Rajamani, Sathish, Ral, Jean-Philippe, Ren, Qinghu, Riaño-Pachón, Diego Mauricio, Riekhof, Wayne, Roje, Sanja, Rokhsar, Daniel S., Rose, Annkatrin, Rymarquis, Linda, Salamov, Asaf, Sanderfoot, Anton A., Sayre, Richard T., Schmutz, Jeremy, Schroda, Michael, Shapiro, Harris, Spalding, Martin H., Stahlberg, Eric, Stern, David, Szajkowski, Lukasz, Terauchi, Aimee M., Terry, Astrid, Umen, James, Vallon, Olivier, Werner, Gregory, Willows, Robert, Wilson, Nedra, Witman, George B., Yang, Pinfen, Zhou, Kemin, Zimmer, Sara Lana +116 morecore +1 more sourceCaroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation [PDF]
, 2018 We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child.Belli, Dominique, Birraux, Jacques, Bottani, Armand, Calinescu-Tuleasca, Ana-Maria, Girardin, Eric, Gubler, Marie-Claire, Le Coultre, Claude, Majno, Pietro, Mentha, Gilles, Rougemont, Anne-Laure, Wildhaber, Barbara +10 morecore FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]
, 2012 Silvio Alessandro Di Gioia, Stef J.F. Letteboer, Corinne Kostic, Dikla Bandah‐Rozenfeld, Lisette Hetterschijt, Dror Sharon, Yvan Arsenijévic, Ronald Roepman, Carlo Rivolta +8 moreopenalex +1 more sourceAn organelle-specific protein landscape identifies novel diseases and molecular mechanisms [PDF]
, 2016 Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases.Apic, G, Arts, HH, Beales, PL, Betts, MJ, Beyer, T, Blacque, OE, Bolat, E, Boldt, K, Coene, KL, Davis, EE, De Vrieze, E, Dougherty, G, Franco, B, Gibson, TJ, Giles, RH, Gloeckner, CJ, Haidari, K, Hetterschijt, L, Horn, N, Huynen, MA, Iaconis, D, Jenkins, D, Katsanis, N, Kepes, F, Klose, F, Knapp, B, Koutroumpas, K, Kremer, H, Lamers, IJ, Latour, B, Letteboer, SJ, Lu, Q, Mans, DA, Marcelis, CL, Mitic, D, Morleo, M, Nguyen, TM, Omran, H, Oud, MM, Riemersma, M, Rix, S, Roepman, R, Russell, RB, Terhal, PA, Texier, Y, Toedt, G, Ueffing, M, UK10K Rare Diseases Group, Van Beersum, SE, van Dam, TJ, Van Reeuwijk, J, Van Wijk, E, Willer, JR, Wissinger, Y, Wolfrum, U, Wu, KM +55 morecore Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies [PDF]
, 2012 Katarzyna Szymańska, Ian Berry, Clare V. Logan, Simon RR Cousins, Helen Lindsay, Hussain Jafri, Yasmin Raashid, Saghira Malik-Sharif, Bruce Castle, Mushtag Ahmed, Chris Bennett, Ruth Carlton, Colin A. Johnson +12 moreopenalex +1 more source
