Results 71 to 80 of about 19,567 (308)

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

Primary Ciliogenesis by 2-Isopropylmalic Acid Prevents PM2.5-Induced Inflammatory Response and MMP-1 Activation in Human Dermal Fibroblasts and a 3-D-Skin Model

International Journal of Molecular Sciences, 2021
Particulate matters (PMs) increase oxidative stress and inflammatory response in different tissues. PMs disrupt the formation of primary cilia in various skin cells, including keratinocytes and melanocytes.
J. Bae, D. Min, J. Choi, Hyunjung Choi, Joon Bum Kim, N. Park, Doo Sin Jo, Yong Hwan Kim, Hye-won Na, Yoon Jae Kim, Eun Sung Kim, Hyoung-june Kim, D. Cho   +12 more
semanticscholar   +1 more source

Length-dependent disassembly maintains four different flagellar lengths in Giardia. [PDF]

, 2019
With eight flagella of four different lengths, the parasitic protist Giardia is an ideal model to evaluate flagellar assembly and length regulation. To determine how four different flagellar lengths are maintained, we used live-cell quantitative imaging ...
Aurrecoechea, Avidor-Reiss, Avidor-Reiss, Ball, Barker, Berman, Bertiaux, Blaineau, Bradley, Briggs, Brooks, Buchel, Buisson, Chan, Chien, Cole, Cooper, Coyne, Craft, Dawson, Deane, Desai, Ellenberg, Engel, Fai, Gibson, Gourguechon, Hagen, Hao, Hardin, Helenius, Hendel, Hilton, Hoeng, Hunter, Ishikawa, Kozminski, Lechtreck, Lenaghan, Ludington, Ludington, Mangeol, Manning, Marshall, Marshall, McInally, McInally, Meng, Mohapatra, Naoz, Nohynková, Pazour, Pazour, Piao, Reiter, Rosenbaum, Sagolla, Schindelin, Shaner, Sung, Tamm, Vasudevan, Walczak, Wang, Wei, Williams, Wingfield, Wloga, Woessner, Wren   +69 more
core   +2 more sources

BAG3 is a negative regulator of ciliogenesis in glioblastoma and triple‐negative breast cancer cells

Journal of Cellular Biochemistry, 2021
By regulating several hallmarks of cancer, BAG3 exerts oncogenic functions in a wide variety of malignant diseases including glioblastoma (GBM) and triple‐negative breast cancer (TNBC).
B. Linder, Caterina Klein, Marina E. Hoffmann, F. Bonn, I. Dikič, D. Kögel   +5 more
semanticscholar   +1 more source

A role for Tctex-1 (DYNLT1) in controlling primary cilium length [PDF]

, 2011
The microtubule motor complex cytoplasmic dynein is known to be involved in multiple processes including endomembrane organization and trafficking, mitosis, and microtubule organization.
MacCarthy-Morrogh, LJ, Miss Nicola, Smyllie, Palmer, KJ, Stephens, DJ   +3 more
core   +1 more source

The small GTPase Rab29 is a common regulator of immune synapse assembly and ciliogenesis [PDF]

, 2015
Acknowledgements We wish to thank Jorge Galán, Gregory Pazour, Derek Toomre, Giuliano Callaini, Joel Rosenbaum, Alessandra Boletta and Francesco Blasi for generously providing reagents and for productive discussions, and Sonia Grassini for technical ...
A Batista, A Onnis, AC Smith, AH Hutagalung, AL Kullas, AW van der Velden, BT Keady, C Cassioli, C Geisler, C Margadant, C T Baldari, C Wasmeier, CJ Westlake, CP Horgan, DA MacLeod, DS Gomez, E Schonteich, EM Manders, F Finetti, F Finetti, F Finetti, G Bonello, G Iezzi, G Patino-Lopez, GJ Pazour, H Soares, I Jordens, JA Follit, JC Stinchcombe, JK Chen, K Geddes, L Patrussi, L Patrussi, LB Pedersen, LI Ehrlich, M de la Roche, M Esquerré, M Gottardo, M Kurowska, MV Nachury, N Capitani, NB Martín-Cófreces, RS Kalupahana, S Pacini, S Spanò, S Spanò, S Spanò, S Wang, SR McGlashan, SY Wong, V Das, VM Wu   +51 more
core   +1 more source

Dynein-2 intermediate chains play crucial but distinct roles in primary cilia formation and function

eLife, 2018
The dynein-2 microtubule motor is the retrograde motor for intraflagellar transport. Mutations in dynein-2 components cause skeletal ciliopathies, notably Jeune syndrome. Dynein-2 contains a heterodimer of two non-identical intermediate chains, WDR34 and
Laura Vuolo, Nicola L Stevenson, Kate J Heesom, David J Stephens   +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

Ulk4 Is Essential for Ciliogenesis and CSF Flow [PDF]

Journal of Neuroscience, 2016
Ciliopathies are an emerging class of devastating disorders with pleiotropic symptoms affecting both the central and peripheral systems and commonly associated with hydrocephalus. Even though ciliary components and three master transcriptional regulators have been identified, little is known about the signaling molecules involved.
Liu, M., Guan, Z., Shen, Q., Lalor, P., Fitzgerald, U., O'Brien, T., Dockery, P., Shen, S.   +7 more
openaire   +3 more sources

RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]

, 2018
Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre, Anselme, Aravind, Beales, Bergen, Berger, Berson, Billaud, Burnside, Burridge, Cahalan, Carroll, Chapman, Cossart, Ferreira, Ferreira, Fuchs, Habas, He, Hildebrandt, Hogan, Imanishi, Jacobson, Johnson, Kaibuchi, Katsanis, Kaykas, Kelley, Khaliq, Khanna, Khanna, Kroes, Lewis, Li, Li, Li, MacDonald, MacDonald, Meyer, Mitchell, Nelson, Nishina, Nusse, Prevarskaya, Putney, Ridley, Roepman, Rosado, Rüther, Rüther, Sage, Schermer, Schneider-Maunoury, Shu, Stainier, Tolwinski, Torban, Vaudin, Vervoort, Vesque, Wallingford, Wittinghofer, Wolfrum, Wright, Wright, Wright, Wright, Wright, Zrenner   +68 more
core   +3 more sources