Results 121 to 130 of about 9,301 (255)

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  

WDR19 : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/99013/1/cge12196 ...
Arthurs, P, Coussa, R G, Faingold, R, Fu, Q, Gee, H‐y, Hildebrandt, F, Keser, V, Khan, A, Koenekoop, R K, Lopez, I, Majewski, J, Otto, E A, Ren, H, Schwartzentruber, J   +13 more
core   +1 more source

Strain-Dependent Modifier Genes Determine Survival in Zfp423 Mice

G3: Genes, Genomes, Genetics, 2020
Zfp423 encodes a transcriptional regulatory protein that interacts with canonical signaling and lineage pathways. Mutations in mouse Zfp423 or its human ortholog ZNF423 are associated with a range of developmental abnormalities reminiscent of ...
Wendy A. Alcaraz, Zheng Liu, Phoebe Valdes, Edward Chen, Alan G. Valdovino Gonzalez, Shelby Wade, Cinny Wong, Eunnie Kim, Hsiang-Hua M. Chen, Alison Ponn, Dorothy Concepcion, Bruce A. Hamilton   +11 more
doaj   +1 more source

Signaling through the primary cilium [PDF]

, 2018
© 2018 Wheway, Nazlamova and Hancock. The presence of single, non-motile "primary" cilia on the surface of epithelial cells has been well described since the 1960s.
Abdelhamed, Adams, Arellano, Basten, Beales, Berbari, Berbari, Bergmann, Bielas, Boehlke, Boldt, Boskovski, Brailov, Bujakowska, Cano, Cantagrel, Cardenas-Rodriguez, Carvajal-Gonzalez, Chiang, Christensen, Clevers, Corbit, Cruz, Davis, Dawe, Dawe, Dong, Echelard, Ezratty, Ezratty, Ferland, Frank, Garcia-Gonzalo, Gerdes, Gherman, Gomez-Orte, Grisanti, Guadiana, Guo, Guruharsha, Habbig, Habbig, Hamamoto, Han, Han, Hartill, Haycraft, Hilgendorf, Huang, Huangfu, Huangfu, Hui, Händel, Ishikawa, Jacob, Jacoby, Jones, Khanna, Kim, Kim, Kiser, Koemeter-Cox, Lancaster, Lancaster, Lee, Li, Lin, Lindstrand, Lobo, Loktev, Louie, Mariman, Marley, Marley, Molla-Herman, Moser, Nager, Nielsen, Nigg, Ocbina, Park, Pazour, Pedersen, Plotnikova, Qin, Qin, Reiter, Riddle, Rohatgi, Schimmenti, Schneider, Schneider, Seeley, Seo, Shaheen, Shillingford, Shnitsar, Simons, Singla, Sorokin, Sorusch, Stasiulewicz, Sugiyama, Suizu, Tavares, Tobin, Valente, Vierkotten, Wallingford, Warburton, Waters, Wheway, Wheway, Wheway, Wiens, Wong, Yu, Yuan, Yuan, Zeng, Zullo   +120 more
core   +2 more sources

Healthcare recommendations for Joubert syndrome [PDF]

, 2020
Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign".
Bachmann-Gagescu, Ruxandra, Boltshauser, Eugen, Bulgheroni, Sara, Chen, Maida L, D'Arrigo, Stefano, Dempsey, Jennifer C, Doherty, Dan, Glass, Ian A, Gunay-Aygun, Meral, Heller, Theo, Hildebrandt, Friedhelm, Héon, Elise, Joshi, Nirmal, Knutzen, Dana, Kroes, Hester Y, Mack, Stephen H, Nuovo, Sara, Parisi, Melissa A, Sayer, John A, Snow, Joseph, Summers, Angela C, Symons, Jordan M, Valente, Enza Maria, Zein, Wadih M   +23 more
core   +1 more source

Computational Drug Repositioning in Cardiorenal Disease: Opportunities, Challenges, and Approaches

PROTEOMICS, EarlyView.
Paul Perco, Matthias Ley, Kinga Kęska‐Izworska, Dorota Wojenska, Enrico Bono, Samuel M. Walter, Lucas Fillinger, Klaus Kratochwill   +7 more
wiley   +1 more source

Tubulin Polymerization Promoting Proteins: Functional Diversity With Implications in Neurological Disorders

Journal of Neuroscience Research, Volume 103, Issue 5, May 2025.
A family of human proteins, encoded by Tubulin Polymerization Promoting Proteins (TPPP), is highly conserved across species. TPPP displays remarkable functional diversity and is implicated in various neurological disorders. Image created with BioRender.com.
Paloma J. Diaz, Qian Shi, Priscilla Y. McNeish, Swati Banerjee   +3 more
wiley   +1 more source

Putative roles of cilia in polycystic kidney disease [PDF]

, 2011
The last 10years has witnessed an explosion in research into roles of cilia in cystic renal disease. Cilia are membrane-enclosed finger-like projections from the cell, usually on the apical surface or facing into a lumen, duct or airway.
Jenkins, Dagan, Winyard, Paul
core   +1 more source

Human efferent ductules and epididymis display unique cell lineages with motile and primary cilia

Andrology, Volume 13, Issue 4, Page 894-910, May 2025.
Abstract Background Previous research has illustrated the role of cilia as mechanical and sensory antennae in various organs within the mammalian male reproductive system across different developmental stages. Despite their significance in both organ development and homeostasis, primary cilia in the human male reproductive excurrent duct have been ...
Ludovic Vinay, Rex A. Hess, Clémence Belleannée   +2 more
wiley   +1 more source

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source