Results 151 to 160 of about 16,529 (304)
Molecular Insights into Outer Dynein Arm Defects in Primary Ciliary Dyskinesia: Involvement of ZMYND10 and GRP78
CellsBackground: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by recurrent sinopulmonary infections due to motile cilia defects. The disease is genetically heterogeneous, with abnormalities in structural ciliary proteins.İlker Levent Erdem, Zeynep Bengisu Kaya, Pergin Atilla, Nagehan Emiralioğlu, Cemil Can Eylem, Emirhan Nemutlu, Uğur Özçelik, Halime Nayır Büyükşahin, Ayşenur Daniş, Elif Karakoç +9 moredoaj +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 Senior- Loken Syndrome – A Ciliopathy
JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH, 2014 Senior - Loken syndrome is a rare combination of juvenile nephronophthisis and tapeto - retinal degeneration. The author describes two patients who presented with varying degrees of retinal dystrophy and renal insufficiency in their second decade of life. Both the patients presented with severe renal failure requiring hemodialysis.openaire +3 more sourcesFounder 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 sourceIllumination of understudied ciliary kinases
Frontiers in Molecular BiosciencesCilia are cellular signaling hubs. Given that human kinases are central regulators of signaling, it is not surprising that kinases are key players in cilia biology.Raymond G. Flax, Peter Rosston, Peter Rosston, Cecilia Rocha, Brian Anderson, Jacob L. Capener, Thomas M. Durcan, David H. Drewry, David H. Drewry, Panagiotis Prinos, Alison D. Axtman +10 moredoaj +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 sourceDataset of "ARP-T1 is a ciliogenesis protein associated with a novel ciliopathy in inherited basal cell cancer, Bazex-Dupré-Christol Syndrome"
, 2020 Hyun‐Sook Park, Eirini Papanastasi, Gabriela Blanchard, Elena Chiticariu, Daniel Bachmann, Markus Plomann, Fanny Morice‐Picard, P. Vabres, Asma Smahi, Marcel Huber, Christine Pich-Bavastro, Daniel Hohl +11 moreopenalex +1 more sourceA Novel Mutation in the OFD1 Gene in a Family with Oral-Facial-Digital Syndrome Type 1: A Case Report. [PDF]
, 2016 Oral-facial-digital syndrome as heterogeneous developmental conditions is characterized by abnormalities in the oral cavity, facial features and digits.Baple, EL, Chioza, BA, Crosby, AH, Dehghan Tezerjani, M, Dehghani, M, Ghadimi, H, Kalantar, SM, Maroofian, R, Nori-Shadkam, M, Vahidi Mehrjardi, MY, Zamaninejad, S +10 morecore
