Results 81 to 90 of about 21,394 (289)

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

Gli2a protein localization reveals a role for Iguana/DZIP1 in primary ciliogenesis and a dependence of Hedgehog signal transduction on primary cilia in the zebrafish [PDF]

, 2010
Background: In mammalian cells, the integrity of the primary cilium is critical for proper regulation of the Hedgehog (Hh) signal transduction pathway.
Ingham, P.W., Kim, H.R., Richardson, J., van Eeden, F.   +3 more
core   +3 more sources

Ciliogenesis, Ciliary Function, and Selective Isolation [PDF]

ACS Chemical Biology, 2008
In addition to their classic role in cell motility, certain cilia have sensory or signaling functions. In sea urchin embryos, short motile cilia randomly propel the early embryo, while a group of long, immotile cilia appear later, coincident with directional swimming and localized within a region that gives rise to the larval nervous system.
openaire   +2 more sources

Ouabain modulates ciliogenesis in epithelial cells [PDF]

Proceedings of the National Academy of Sciences, 2011
The exchange of substances between higher organisms and the environment occurs across transporting epithelia whose basic features are tight junctions (TJs) that seal the intercellular space, and polarity, which enables cells to transport substances vectorially.
Isabel, Larre, Aida, Castillo, Catalina, Flores-Maldonado, Ruben G, Contreras, Ivan, Galvan, Jesus, Muñoz-Estrada, Marcelino, Cereijido   +6 more
openaire   +2 more sources

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

NudCL2 is an autophagy receptor that mediates selective autophagic degradation of CP110 at mother centrioles to promote ciliogenesis

Cell Research, 2021
Primary cilia extending from mother centrioles are essential for vertebrate development and homeostasis maintenance. Centriolar coiled-coil protein 110 (CP110) has been reported to suppress ciliogenesis initiation by capping the distal ends of mother ...
Min Liu, W. Zhang, Min Li, Jiaxing Feng, Wenjun Kuang, Xiying Chen, Feng Yang, Qiang Sun, Zhangqi Xu, Jianfeng Hua, Chunxia Yang, Wei Liu, Q. Shu, Yuehong Yang, Tianhua Zhou, Shanshan Xie   +15 more
semanticscholar   +1 more source

Centrosome amplification disrupts renal development and causes cystogenesis [PDF]

, 2018
International ...
Amanda Knoten, Arquint, Astrinidis, Battini, Bettencourt-Dias, Bhaskar, Boehlke, Boletta, Brito, Brown, Burtey, Chang-Panesso, Chen, Chi, Coelho, Cosenza, Davenport, Dere, Distefano, Fisher, Ganem, Godinho, Godinho, Godinho, Goto, Habedanck, Hartman, Hendry, Hoshi, Jain, Jain, Janssen, Jinzhi Wang, Jonassen, Keefe Davis, Kobayashi, Krämer, Kulukian, Kyuhwan Shim, Lai Kuan Dionne, Levine, Lin, Ma, Mahjoub, Majumdar, Marthiens, Marthiens, Masato Hoshi, Masyuk, Moe R. Mahjoub, Mugford, Mundlos, Nano, Nigg, Nigg, Ogden, Patel, Quintyne, Renata Basto, Roselli, Saifudeen, Saifudeen, Sanjay Jain, Schmidt-Ott, Serçin, Shao, Sharma, Shillingford, Silkworth, Sillibourne, Simons, Srivastava, Takakura, Tammachote, Tao Cheng, Veronique Marthiens, Vitre, Werner, Yoder, Zhao   +79 more
core   +8 more sources

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations

Cell Reports, 2017
Mutations in CEP290, a transition zone protein in primary cilia, cause diverse ciliopathies, including Leber congenital amaurosis (LCA) and Joubert-syndrome and related disorders (JSRD).
Hiroko Shimada, Quanlong Lu, Christine Insinna-Kettenhofen, Kunio Nagashima, Milton A. English, Elizabeth M. Semler, Jacklyn Mahgerefteh, Artur V. Cideciyan, Tiansen Li, Brian P. Brooks, Meral Gunay-Aygun, Samuel G. Jacobson, Tiziana Cogliati, Christopher J. Westlake, Anand Swaroop   +14 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