Results 71 to 80 of about 11,057 (243)

Strongly Truncated Dnaaf4 Plays a Conserved Role in Drosophila Ciliary Dynein Assembly as Part of an R2TP-Like Co-Chaperone Complex With Dnaaf6

Frontiers in Genetics, 2022
Axonemal dynein motors are large multi-subunit complexes that drive ciliary movement. Cytoplasmic assembly of these motor complexes involves several co-chaperones, some of which are related to the R2TP co-chaperone complex.
Jennifer Lennon, Petra zur Lage, Alex von Kriegsheim, Andrew P. Jarman   +3 more
doaj   +1 more source

Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models

International Journal of Molecular Sciences
The human photoreceptor function is dependent on a highly specialised cilium. Perturbation of cilial function can often lead to death of the photoreceptor and loss of vision.
Andrew McDonald, Jan Wijnholds
semanticscholar   +1 more source

Cell-cell interaction determines cell fate of mesoderm-derived cell in tongue development through Hh signaling

eLife
Dysfunction of primary cilia leads to genetic disorder, ciliopathies, which shows various malformations in many vital organs such as brain. Multiple tongue deformities including cleft, hamartoma, and ankyloglossia are also seen in ciliopathies, which ...
Maiko Kawasaki, Katsushige Kawasaki, Finsa Tisna Sari, Takehisa Kudo, Jun Nihara, Madoka Kitamura, Takahiro Nagai, Vanessa Utama, Yoko Ishida, Fumiya Meguro, Alex Kesuma, Akira Fujita, Takayuki Nishimura, Yuan Kogure, Satoshi Maruyama, Jun-ichi Tanuma, Yoshito Kakihara, Takeyasu Maeda, Sarah Ghafoor, Roman H Khonsari, Pierre Corre, Paul T Sharpe, Martyn Cobourne, Brunella Franco, Atsushi Ohazama   +24 more
doaj   +1 more source

661W Photoreceptor Cell Line as a Cell Model for Studying Retinal Ciliopathies

Frontiers in Genetics, 2019
The retina contains several ciliated cell types, including the retinal pigment epithelium (RPE) and photoreceptor cells. The photoreceptor cilium is one of the most highly modified sensory cilia in the human body.
Gabrielle Wheway, Gabrielle Wheway, Gabrielle Wheway, Liliya Nazlamova, Liliya Nazlamova, Liliya Nazlamova, Dann Turner, Stephen Cross   +7 more
doaj   +1 more source

Renal Ciliopathies: Sorting Out Therapeutic Approaches for Nephronophthisis

Frontiers in Cell and Developmental Biology, 2021
Nephronophthisis (NPH) is an autosomal recessive ciliopathy and a major cause of end-stage renal disease in children. The main forms, juvenile and adult NPH, are characterized by tubulointerstitial fibrosis whereas the infantile form is more severe and ...
M. Stokman, S. Saunier, A. Benmerah
semanticscholar   +1 more source

Phosphorylation at the Helm: Kinase‐Mediated Regulation of Primary Cilia Assembly and Disassembly

Cytoskeleton, EarlyView.
ABSTRACT The primary cilium serves as an antenna of most vertebrate cells and is important for conveying cues from several signaling pathways into appropriate cellular responses during development and homeostasis. Cilia assembly and disassembly processes are thought to be strictly controlled; however, the precise nature of molecular events underlying ...
Andrea Lacigová, Lukáš Čajánek
wiley   +1 more source

Dynamics of primary cilia in endothelial and mesenchymal cells throughout mouse lung development

Developmental Dynamics, EarlyView.
Abstract Cilia are specialized structures found on a variety of mammalian cells, with variable roles in the transduction of mechanical and biological signals (by primary cilia, PC), as well as in the generation of fluid flow (by motile cilia). Their critical role in the establishment of a left–right axis in early development is well described, as well ...
Stephen Spurgin, Ange Michelle Nguimtsop, Fatima N. Chaudhry, Sylvia N. Michki, Jocelynda Salvador, M. Luisa Iruela‐Arispe, Jarod A. Zepp, Saikat Mukhopadhyay, Ondine Cleaver   +8 more
wiley   +1 more source

Exploring Key Challenges of Understanding the Pathogenesis of Kidney Disease in Bardet–Biedl Syndrome

Kidney International Reports, 2020
Bardet–Biedl syndrome (BBS) is a rare pleiotropic inherited disorder known as a ciliopathy. Kidney disease is a cardinal clinical feature; however, it is one of the less investigated traits. This study is a comprehensive analysis of the literature aiming
Emanuela Marchese, Margherita Ruoppolo, Alessandra Perna, Giovambattista Capasso, Miriam Zacchia   +4 more
doaj   +1 more source

Expanding CEP290 mutational spectrum in ciliopathies [PDF]

American Journal of Medical Genetics Part A, 2009
AbstractCiliopathies are an expanding group of rare conditions characterized by multiorgan involvement, that are caused by mutations in genes encoding for proteins of the primary cilium or its apparatus. Among these genes, CEP290 bears an intriguing allelic spectrum, being commonly mutated in Joubert syndrome and related disorders (JSRD), Meckel ...
Roberta Battini, J. Hahn, Trudy McKanna, Padraic Grattan-Smith, Banu Anlar, Bruria Ben-Zeev, Matloob Azam, E. Del Giudice, A. Pessagno, Ignacio Pascual-Castroviejo, Kalpathy S. Krishnamoorthy, Jerlyn C Tolentino, M. Di Giacomo, R. De Vescovi, Kathryn J. Swoboda, G. Marra, A. Permunian, Asma A. Al-Tawari, E. Finsecke, Hülya Kayserili, A. Adami, Silvana Briuglia, Elliott H. Sherr, Tania Attié-Bitach, Christopher A. Walsh, Franco Stanzial, David G. Brooks, R. Van Coster, Anna Rajab, Laila Bastaki, Dorit Lev, Itxaso Marti, J. Milisa, F. Benedicenti, Marzia Pollazzon, Robert P. Cruse, Miriam Iannicelli, Miriam Iannicelli, Maria Teresa Divizia, T. E. Gallager, Mary Kay Koenig, Enrico Bertini, Gaetano Tortorella, P. Ludvigsson, Luigina Spaccini, V. Sabolic Avramovska, Corrado Romano, Pierangela Castorina, Jane A. Hurst, Maha S. Zaki, Pasquale Parisi, Atıl Yüksel, H. Raynes, M. L. Di Sabato, Jean-Michel Rozet, Luciana Rigoli, E. DeMarco, Josseline Kaplan, William B Dobyns, Andreas Zankl, Andreas Zankl, Stefania Bigoni, Christopher P. Bennett, Elisa Fazzi, Heike Philippi, Amy Goldstein, A. M. Laverda, A. Seward, Wendy K. Chung, M. Akcakus, Lorenzo Pinelli, Sabrina Signorini, Renaud Touraine, Lucio Giordano, Shubha R. Phadke, Maria Roberta Cilio, Renato Borgatti, Faustina Lalatta, Rita Fischetto, Raoul C.M. Hennekam, Marilena Briguglio, Kenton R. Holden, A. Moreira, J. Caldwell, S. Romano, Daria Riva, Gian M. Ghiggeri, Roshan Koul, Alex Magee, Serap Teber, S. Bernes, Darryl C. De Vivo, S. Sigaudy, Bernard Stuart, Marc D'Hooghe, László Sztriha, Bernard L. Maria, Terry D. Sanger, Carmelo Salpietro, Clara Barbot, M.A. Donati, Barbara Scelsa, D. Greco, Vincenzo Leuzzi, Alessandro Simonati, P. Collignon, D. Nicholl, L. Martorell Sampol, Edward Blair, Gustavo Maegawa, Alessandra Ferlini, S. Halldorsson, André Mégarbané, Francesco Brancati, Francesco Brancati, Patrizia Accorsi, Carla Uggetti, L. I. Al Gazali, L. Demerleir, P. De Lonlay, M. Silengo, Enza Maria Valente, Enza Maria Valente, Isabelle Perrault, C. G. Woods, Nicole I. Wolf, Ghada M. H. Abdel-Salam, Alice Abdel-Aleem, Richard J. Leventer, Clotilde Lagier-Tourenne, Brunella Mancuso, Brunella Mancuso, Ryan D. Schubert, Silvia Battaglia, C. Daugherty, Angela Barnicoat, Francesca Faravelli, Bruno Dallapiccola, Bruno Dallapiccola, V. Udani, Dominika Swistun, David Viskochil, Kathrin Ludwig, Loredana Boccone, Yves Sznajer, Susana Quijano-Roy, Gianluca Caridi, Joseph G. Gleeson, C. Ae Kim, K. Dias, G. Uziel, Jean Messer, Petter Strømme, Melissa Lees, M. Cazzagon, M. M. De Jong, Alex E. Clark, Marina Michelson, Dean Sarco, Sophie Audollent, Agnese Suppiej, S. Comu, S. Kitsiou Tzeli, C. Moco, D. Petkovic, Lorena Travaglini, Lorena Travaglini, Eamonn Sheridan, B. Rodriguez, Ender Karaca, C. Donahue, Henry Sanchez, J. Johannsdottir, Andreas R. Janecke   +173 more
openaire   +10 more sources

Identification of novel genes regulating the development of the palate

Developmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source