Results 101 to 110 of about 9,301 (255)

Translational Retinal Research and Therapies. [PDF]

, 2018
The following review summarizes the state of the art in representative aspects of gene therapy/translational medicine and evolves from a symposium held at the School of Veterinary Medicine, University of Pennsylvania on November 16, 2017 honoring Dr ...
Aguirre, Gustavo D, Beltran, William A, Cideciyan, Artur V, Flannery, John G, Hardcastle, Alison J, Jacobson, Samuel G, Sahel, José-Alain, Sieving, Paul A   +7 more
core   +1 more source

Ciliopathies: Genetics in Pediatric Medicine [PDF]

Journal of Pediatric Genetics, 2016
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings.
Machteld M. Oud, Heleen H. Arts, Heleen H. Arts, Ideke J.C. Lamers   +3 more
openaire   +4 more sources

Primary Cilium-Mediated Retinal Pigment Epithelium Maturation Is Disrupted in Ciliopathy Patient Cells

Cell Reports, 2018
Summary: Primary cilia are sensory organelles that protrude from the cell membrane. Defects in the primary cilium cause ciliopathy disorders, with retinal degeneration as a prominent phenotype.
Helen Louise May-Simera, Qin Wan, Balendu Shekhar Jha, Juliet Hartford, Vladimir Khristov, Roba Dejene, Justin Chang, Sarita Patnaik, Quanlong Lu, Poulomi Banerjee, Jason Silver, Christine Insinna-Kettenhofen, Dishita Patel, Mostafa Lotfi, May Malicdan, Nathan Hotaling, Arvydas Maminishkis, Rupa Sridharan, Brian Brooks, Kiyoharu Miyagishima, Meral Gunay-Aygun, Rajarshi Pal, Christopher Westlake, Sheldon Miller, Ruchi Sharma, Kapil Bharti   +25 more
doaj  

Cildb: a knowledgebase for centrosomes and cilia [PDF]

, 2011
Ciliopathies, pleiotropic diseases provoked by defects in the structure or function of cilia or flagella, reflect the multiple roles of cilia during development, in stem cells, in somatic organs and germ cells.
A Demertzi, A Demertzi, A Kubler, A Shiel, A Shiel, A Vanhaudenhuyse, A Vanhaudenhuyse, A Vanhaudenhuyse, A Vanhaudenhuyse, A Vanhaudenhuyse, A Zeman, AM Owen, American Congress of Rehabilitation Medicine, AR Damasio, B Baars, B Jennett, B Jennett, B Wilhelm, BJ Ansell, BR Cant, C Brefel-Courbon, C Fischer, C Schnakers, C Schnakers, C Schnakers, C Schnakers, C Schnakers, C Schnakers, C Schnakers, D Nieuwenhuijs, DE Levy, DT Wade, E Sellers, E Wijdicks, EA Fridman, EF Wijdicks, EF Wijdicks, EG Zandbergen, F Perrin, F Plum, G Deuschl, G Teasdale, GB Young, H Gill-Thwaites, H Oh, HB Di, HU Voss, J Daltrozzo, J Leon-Carrion, J Whyte, J Whyte, J Whyte, J-M Guérit, JD Born, JD Born, JJ Fins, JJ Fins, JL Shames, JS Lin, JT Giacino, JT Giacino, K Andrews, L Naccache, M Boly, M Boly, M Boly, M Boly, M Bruno, M Struys, MA Passler, MT Alkire, ND Schiff, ND Schiff, ND Schiff, NL Childs, NM Kane, O Gosseries, O Stelt van der, P Maquet, P Qin, P Tolle, R Clauss, R Clauss, R Naatanen, RD Zafonte, RL Wood, RP Clauss, RP Clauss, S Fang, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Laureys, S Majerus, S Sutton, SI Cohen, SJ Dundon, T Cochrane, T Taira, The Multi-Society Task Force on PVS, The Quality Standards Subcommittee of the American Academy of Neurology   +113 more
core   +2 more sources

How exome sequencing improves the diagnostics and management of men with non‐syndromic infertility

Andrology, EarlyView.
Abstract Male infertility affects approximately 17% of all men and represents a complex disorder in which not only semen parameters such as sperm motility, morphology, and number of sperm are highly variable, but also testicular phenotypes range from normal spermatogenesis to complete absence of germ cells.
Birgit Stallmeyer, Ann‐Kristin Dicke, Frank Tüttelmann   +2 more
wiley   +1 more source

Computational and molecular dissection of an X-box cis-Regulatory module [PDF]

arXiv, 2018
Ciliopathies are a class of human diseases marked by dysfunction of the cellular organelle, cilia. While many of the molecular components that make up cilia have been identified and studied, comparatively little is understood about the transcriptional regulation of genes encoding these components. The conserved transcription factor Regulatory Factor X (
arxiv  

Human asthenozoospermia: Update on genetic causes, patient management, and clinical strategies

Andrology, EarlyView.
Abstract Background In mammals, sperm fertilization potential relies on efficient progression within the female genital tract to reach and fertilize the oocyte. This fundamental property is supported by the flagellum, an evolutionarily conserved organelle, which contains dynein motor proteins that provide the mechanical force for sperm propulsion and ...
Emma Cavarocchi, Maëva Drouault, Joao C. Ribeiro, Violaine Simon, Marjorie Whitfield, Aminata Touré   +5 more
wiley   +1 more source

Stacked Neural Networks for end-to-end ciliary motion analysis [PDF]

arXiv, 2018
Cilia are hairlike structures protruding from nearly every cell in the body. Diseases known as ciliopathies, where cilia function is disrupted, can result in a wide spectrum of disorders. However, most techniques for assessing ciliary motion rely on manual identification and tracking of cilia; this process is laborious and error-prone, and does not ...
arxiv  

Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of origin recognition complex factors [PDF]

, 2019
Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism disorder. MGS is caused by genetic variants of components of the origin recognition complex (ORC) consisting of ORC1–6 and the pre-replication complex, which together ...
Casar Tena, Teresa, Donow, Cornelia, Gerhards, Julian, Jeggo, Penelope A, Maerz, Lars D, Philipp, Melanie   +5 more
core   +1 more source

Multimerization of Zika Virus-NS5 Causes Ciliopathy and Forces Premature Neurogenesis [PDF]

, 2020
Zika virus (ZikV) is a flavivirus that infects neural tissues, causing congenital microcephaly. ZikV has evolved multiple mechanisms to restrict proliferation and enhance cell death, although the underlying cellular events involved remain unclear.
Akizu, Naiara, Blanco-Ameijeiras, Jose, Ferrero, Diego, Flores-Mendez, Marco, Gonzalez-Gobartt, Elena, Martí, Elisa, Martínez-Sáez, Elena, Ramón y Cajal, Santiago, Ruiz-Arroyo, Víctor M., Saade, Murielle, Verdaguer, Núria   +10 more
core   +1 more source