Results 21 to 30 of about 17,107 (226)

Rab8a and Rab8b are essential for several apical transport pathways but insufficient for ciliogenesis [PDF]

, 2013
The small GTP-binding protein Rab8 is known to play an essential role in intracellular transport and cilia formation. We have previously demonstrated that Rab8a is required for localising apical markers in various organisms.
A. Harada, H. Hagiwara, M. Kunii, M. Yuzaki, R. Harada, R. Mizuguchi, S. Matsuda, T. Iwano, T. Sato, Y. Jung, Y. Yoshihara   +10 more
core   +2 more sources

The exocyst in ciliogenesis. [PDF]

Ren Fail
The primary cilium is an organelle found on different cell types in many organs, and is important for human health including the kidney. Diseases due to abnormal or absent cilia are termed ciliopathies and ADPKD is one of the most common ciliopathies and the fourth leading cause of ESKD.
Winkler B, Lerner K, Lipschutz JH.
europepmc   +3 more sources

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

The snRNA-processing complex, Integrator, is required for ciliogenesis and dynein recruitment to the nuclear envelope via distinct mechanisms

Biology Open, 2013
Summary We previously reported that the small nuclear RNA processing complex, Integrator, is required for dynein recruitment to the nuclear envelope at mitotic onset in cultured human cells.
Jeanne N. Jodoin, Mohammad Shboul, Todd R. Albrecht, Ethan Lee, Eric J. Wagner, Bruno Reversade, Laura A. Lee   +6 more
doaj   +1 more source

Phosphorylation and Ubiquitylation Regulate Protein Trafficking, Signaling, and the Biogenesis of Primary Cilia

Frontiers in Cell and Developmental Biology, 2021
The primary cilium is a solitary, microtubule-based membrane protrusion extending from the surface of quiescent cells that senses the cellular environment and triggers specific cellular responses.
Elena A. May, Elena A. May, Tommy J. Sroka, Tommy J. Sroka, David U. Mick, David U. Mick   +5 more
doaj   +1 more source

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. [PDF]

, 2015
The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly.
Daniel H. Cohn, Deborah A. Nickerson, Deborah Krakow, Ivan Duran, Jay Shendure, Michael J. Bamshad, null null, Ralph S. Lachman, Richard B. Vallee, S. Paige Taylor, Stanley F. Nelson, Sulin Wu, Tiago J. Dantas   +12 more
core   +2 more sources

The novel ciliogenesis regulator DYRK2 governs Hedgehog signaling during mouse embryogenesis

eLife, 2020
Mammalian Hedgehog (Hh) signaling plays key roles in embryogenesis and uniquely requires primary cilia. Functional analyses of several ciliogenesis-related genes led to the discovery of the developmental diseases known as ciliopathies.
Saishu Yoshida, Katsuhiko Aoki, Ken Fujiwara, Takashi Nakakura, Akira Kawamura, Kohji Yamada, Masaya Ono, Satomi Yogosawa, Kiyotsugu Yoshida   +8 more
doaj   +1 more source

C21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases

Clinical Case Reports, 2023
Variants in the C21orf2 (CFAP410) gene have recently been associated with the development of retinitis pigmentosa, an inherited condition characterized by degeneration of the retina.
Meagan Shinbashi, Ann Jewell, Jessica Randolph, Natario Couser   +3 more
doaj   +1 more source

A missense mutation in Ehd1 associated with defective spermatogenesis and male infertility

Frontiers in Cell and Developmental Biology, 2023
Normal function of the C-terminal Eps15 homology domain-containing protein 1 (EHD1) has previously been associated with endocytic vesicle trafficking, shaping of intracellular membranes, and ciliogenesis.
Katrin Meindl, Naomi Issler, Naomi Issler, Sara Afonso, Sara Afonso, Alberto Cebrian-Serrano, Alberto Cebrian-Serrano, Alberto Cebrian-Serrano, Karin Müller, Christina Sterner, Helga Othmen, Helga Othmen, Ines Tegtmeier, Ralph Witzgall, Enriko Klootwijk, Benjamin Davies, Benjamin Davies, Robert Kleta, Richard Warth   +18 more
doaj   +1 more source

Uni-directional ciliary membrane protein trafficking by a cytoplasmic retrograde IFT motor and ciliary ectosome shedding [PDF]

, 2015
The role of the primary cilium in key signaling pathways depends on dynamic regulation of ciliary membrane protein composition, yet we know little about the motors or membrane events that regulate ciliary membrane protein trafficking in existing ...
Adair, Bakeberg, Belzile, Bergman, Cao, Chacon-Heszele, Chih, Dentler, Dorn, Engel, Ferris, Firestone, Garcia-Gonzalo, Gerdes, Goetz, Goodenough, Goodenough, Hildebrandt, Hogan, Hu, Hunnicutt, Hunnicutt, Hyman, Kim, Kong, Kubo, Lancaster, Lin, Liu, Liu, Malicki, Meng, Milenkovic, Molla-Herman, Mukhopadhyay, Mukhopadhyay, Nachury, Ning, Ocbina, Pasquale, Pazour, Pazour, Pedersen, Pijst, Pijst, Rohatgi, Rohatgi, Rosenbaum, Sang, Shih, Snell, Snell, Snell, Tai, Wang, Wang, Wang, Weise, Wiese, Williams, Wilson, Wood, Wood, Ye   +63 more
core   +3 more sources