Results 131 to 140 of about 12,876 (273)

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 sources

The \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 more
core   +1 more source

Cauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling jeune syndrome

, 2015
Cilia are architecturally complex organelles that protrude from the cell membrane and have signalling, sensory and motility functions that are central to normal tissue development and homeostasis.
Ah-Cann, Casey J, Bateman, John F, Bertram, John F, Caruana, Georgina, Dobbie, Michael S, Farlie, Peter G, Freckmann, Mary-Louise, Miller, Kerry A, Pope, Kate, Savarirayan, Ravi, Tan, Tiong Y, Welfare, Megan F   +11 more
core   +1 more source

An 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 more
core  

Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies [PDF]

, 2019
I-Chun Tsai, Kevin Adams, Joyce A. Tzeng, Omar Shennib, Perciliz L. Tan, Nicholas Katsanis   +5 more
openalex   +1 more source

Ophthalmologic Manifestations in Bardet–Biedl Syndrome: Emerging Therapeutic Approaches

Medicina
Bardet–Biedl syndrome (BBS) is a rare multisystem ciliopathy characterized by early-onset retinal degeneration and other vision-threatening ophthalmologic manifestations. This review synthesizes current knowledge on the ocular phenotype of BBS as well as
Amaris Rosado, Ediel Rodriguez, Natalio Izquierdo   +2 more
doaj   +1 more source

Exploring the Spectrum of Kidney Ciliopathies [PDF]

, 2020
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
openalex   +1 more source

Identification and bioinformatics analysis of cilia-associated gene families in Euplotes amieti (Ciliophora, Hypotrichia)

Frontiers in Microbiology
IntroductionCiliates serve as pivotal model organisms for investigating the protein composition and regulatory mechanisms underlying cellular processes. This study systematically explores the structural and functional characteristics of cilia-associated ...
Liheng Shen, Xiaobing Xiong, Zixiang Xu, Yingli Liu, Yan Sheng, Xin Sheng   +5 more
doaj   +1 more source

FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies [PDF]

, 2017
Retinitis pigmentosa (RP) is a retinal degenerative disease characterized by the progressive loss of photoreceptors. We have previously demonstrated that RP can be caused by recessive mutations in the human FAM161A gene, encoding a protein with unknown ...
Arsenijevic, Yvan, Bandah-Rozenfeld, Dikla, Di Gioia, Silvio Alessandro, Hetterschijt, Lisette, Kostic, Corinne, Letteboer, Stef J.F., Rivolta, Carlo, Roepman, Ronald, Sharon, Dror   +8 more
core  

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology

Kidney International Reports
Introduction: Chronic kidney disease (CKD) is a critical prognostic factor in Bardet-Biedl syndrome (BBS). Early diagnosis and intervention are essential for improving patient outcomes.
Miriam Zacchia, Floriana Secondulfo, Andrea Melluso, Francesca Del Vecchio Blanco, Valentina Di Iorio, Anna Laura Torella, Giulio Piluso, Giovanna Capolongo, Francesco Trepiccione, Francesca Simonelli, Vincenzo Nigro, Alessandra Perna, Giovambattista Capasso   +12 more
doaj   +1 more source