Results 111 to 120 of about 19,567 (308)

ARL3 mutations cause Joubert syndrome by disrupting ciliary protein composition [PDF]

, 2018
Joubert syndrome (JBTS) is a genetically heterogeneous autosomal recessive neurodevelopmental ciliopathy. We investigated further the underlying genetic etiology of Joubert syndrome by studying two unrelated families in whom JBTS was not associated ...
Alhashem, Amal, Alkanderi, Sumaya, Alkuraya, Fowzan S., Cairns, George, Edwards, Noel, Elmaghloob, Yasmin, Ewida, Nour, Ismail, Shehab, Miles, Colin G., Molinari, Elisa, Ramsbottom, Simon A., Rice, Sarah J., Sammut, Veronica, Sayer, John A., Shaheen, Ranad, Srivastava, Shalabh, Steel, David H., Stephen, Louise A., White, Kathryn   +18 more
core   +1 more source

2-IPMA Ameliorates PM2.5-Induced Inflammation by Promoting Primary Ciliogenesis in RPE Cells

Molecules, 2021
Primary cilia mediate the interactions between cells and external stresses. Thus, dysregulation of primary cilia is implicated in various ciliopathies, e.g., degeneration of the retina caused by dysregulation of the photoreceptor primary cilium ...
J. Choi, J. Bae, Joon Bum Kim, Doo Sin Jo, N. Park, Yong Hwan Kim, Ha Jung Lee, S. Kim, So Hyun Kim, H. Jeon, Hye-won Na, H. Choi, Hong-Yeoul Ryu, Z. Ryoo, Hyun-Shik Lee, D. Cho   +15 more
semanticscholar   +1 more source

Variants in the WDR44 WD40-repeat domain cause a spectrum of ciliopathy by impairing ciliogenesis initiation

Nature Communications
WDR44 prevents ciliogenesis initiation by regulating RAB11-dependent vesicle trafficking. Here, we describe male patients with missense and nonsense variants within the WD40 repeats (WDR) of WDR44, an X-linked gene product, who display ciliopathy-related
Andrea Accogli, Saurabh Shakya, Taewoo Yang, Christine Insinna, Soo Yeon Kim, David Bell, Kirill R. Butov, Mariasavina Severino, Marcello Niceta, Marcello Scala, Hyun Sik Lee, Taekyeong Yoo, Jimmy Stauffer, Huijie Zhao, Chiara Fiorillo, Marina Pedemonte, Maria C. Diana, Simona Baldassari, Viktoria Zakharova, Anna Shcherbina, Yulia Rodina, Christina Fagerberg, Laura Sønderberg Roos, Jolanta Wierzba, Artur Dobosz, Amanda Gerard, Lorraine Potocki, Jill A. Rosenfeld, Seema R. Lalani, Tiana M. Scott, Daryl Scott, Mahshid S. Azamian, Raymond Louie, Hannah W. Moore, Neena L. Champaigne, Grace Hollingsworth, Annalaura Torella, Vincenzo Nigro, Rafal Ploski, Vincenzo Salpietro, Federico Zara, Simone Pizzi, Giovanni Chillemi, Marzia Ognibene, Erin Cooney, Jenny Do, Anders Linnemann, Martin J. Larsen, Suzanne Specht, Kylie J. Walters, Hee-Jung Choi, Murim Choi, Marco Tartaglia, Phillippe Youkharibache, Jong-Hee Chae, Valeria Capra, Sung-Gyoo Park, Christopher J. Westlake   +57 more
doaj   +1 more source

The Cilium: Cellular Antenna and Central Processing Unit [PDF]

, 2016
Cilia mediate an astonishing diversity of processes. Recent advances provide unexpected insights into the regulatory mechanisms of cilium formation, and reveal diverse regulatory inputs that are related to the cell cycle, cytoskeleton, proteostasis, and ...
Armour, Avasthi, Bershteyn, Besschetnova, Birgisdottir, Boehlke, Breslin, Cao, Colin A. Johnson, Dawe, Delling, Delous, Distefano, Eifler, Fan, Farina, Garcia-Gonzalo, Gerhardt, Goetz, Habbig, Hartman, He, Heider, Hernandez-Hernandez, Hildebrandt, Hu, Huang, Inoko, Ishikawa, Jacoby, Jahn, Jang, Jarema J. Malicki, Jentsch, Jimenez-Sanchez, Jin, Jin, Jo, Jung, Kang, Kasahara, Khaminets, Kim, Kim, Kim, Kim, Kinzel, Kleylein-Sohn, Kobayashi, Kobayashi, Kuhns, Lam, Laplante, Lee, Lee, Li, Li, Liu, Mahaffey, Majumder, Malicki, Maskey, Meyer, Miyamoto, Mukhopadhyay, Nachury, Nakatogawa, Neufeld, Nigg, Norris, Omori, Orhon, Pampliega, Paridaen, Park, Praskova, Pugacheva, Raman, Rieser, Satir, Seeger-Nukpezah, Shillingford, Spektor, Sung, Sánchez de Diego, Takao, Tang, Tsang, Valente, Valente, Wang, Wang, Werner, Westlake, Wheway, Wong, Yang, Yasunaga, Yuan, Zanconato, Zhang, Zhang   +101 more
core   +2 more sources

Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation

International Journal of Molecular Sciences, 2021
Primary cilia are nonmotile cellular signal-sensing antenna-like structures composed of microtubule-based structures that distinguish them from motile cilia in structure and function. Primary ciliogenesis is regulated by various cellular signals, such as
Sun-Ok Kim, K. Cho, Bo Yeon Kim, K. H. Lee   +3 more
semanticscholar   +1 more source

Transcriptomic Profiles of the Nasal Mucosa Following Birch Pollen Provocation Differ Between Birch Pollen‐Allergic and Non‐Allergic Individuals

Allergy, EarlyView.
Fourteen genes, mainly encoding keratins, were commonly differentially expressed in both allergic and non‐allergic individuals after nasal provocation with birch pollen. The nasal provocation in birch pollen‐allergic individuals led to activation of innate immune pathways within 15–30 min and proliferation‐regulatory pathways within 60–120 min.
Srinidhi Sudharson, Julia Eckl‐Dorna, Anastasia Meshcheryakova, José Basílio, Sophia Derdak, Tanja Kalic, Nina Lengger, Nina Schweitzer, Diana Mechtcheriakova, Heimo Breiteneder, Christine Hafner   +10 more
wiley   +1 more source

Effects of the novel formin INF1 on ciliogenesis [PDF]

Cilia, 2015
Objective INF1 is a novel member of the formin family of cytoskeletal regulatory proteins. We previously identified a connection between INF1 expression and microtubule acetylation and more recently have found that INF1 expression induces Golgi dispersion.
C Tenneson, John W. Copeland, W Kulacz, S Copeland   +3 more
openaire   +2 more sources

Investigating the Role of the microRNA-34/449 Family in Male Infertility: A Critical Analysis and Review of the Literature

Frontiers in Endocrinology, 2021
There is a great body of evidence suggesting that in both humans and animal models the microRNA-34/449 (miR-34/449) family plays a crucial role for normal testicular functionality as well as for successful spermatogenesis, regulating spermatozoa ...
Konstantinos Pantos, Sokratis Grigoriadis, Sokratis Grigoriadis, Penelope Tomara, Ioanna Louka, Evangelos Maziotis, Evangelos Maziotis, Agni Pantou, Agni Pantou, Nikolaos Nitsos, Terpsithea Vaxevanoglou, Georgia Kokkali, Ashok Agarwal, Konstantinos Sfakianoudis, Mara Simopoulou, Mara Simopoulou   +15 more
doaj   +1 more source

Abnormal photoreceptor outer segment development and early retinal degeneration in kif3a mutant zebrafish [PDF]

, 2016
Photoreceptors are highly specialized sensory neurons that possess a modified primary cilium called the outer segment. Photoreceptor outer segment formation and maintenance require highly active protein transport via a process known as intraflagellar ...
Akhtar, Alfinito, Avasthi, Bachmann-Gagescu, Baker, Beech, Brockerhoff, Cao, Deacon, Eblimit, Goetz, Huang, Insinna, Insinna, Insinna, Jiang, Jimeno, Jimeno, Kodani, Krock, Lopes, Louie, Makhankov, Marszalek, Marszalek, Muresan, Muresan, Nascimento, Nonaka, Pazour, Ryan, Scholey, Shu, Stearns, Sukumaran, Traverso, Trivedi, Tsujikawa, Tuma, Westerfield, Whitehead, Wolfrum, Yamazaki, Yang, Zhao   +44 more
core   +2 more sources

Centriolar satellites are required for efficient ciliogenesis and ciliary content regulation

EMBO Reports, 2019
Centriolar satellites are ubiquitous in vertebrate cells. They have recently emerged as key regulators of centrosome/cilium biogenesis, and their mutations are linked to ciliopathies.
Ezgi Odabasi, Seref Gul, I. Kavakli, E. N. Firat-Karalar   +3 more
semanticscholar   +1 more source