Results 81 to 90 of about 12,876 (273)

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [PDF]

, 2013
Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the axoneme underlie the disease, which is characterised by chronic respiratory symptoms ...
Alexandros Onoufriadis, Amelia Shoemark, Anthony T Moore, Antony, Bush, Chela T James, Chiara Bacchelli, Claire Hogg, Eddie M K Chung, Elisabeth M Rosser, Fliegauf, Gerard Pals, Gherman, Hannah M Mitchison, Hirst, Hjeij, Hozumi, Jeannette E Danke-Roelse, John J Sloper, Kennedy, Knowles, Loges, Lonergan, Miriam Schmidts, Mitali Patel, Mustafa M Munye, O'Toole, Olbrich, Ong, Onoufriadis, Papon, Peter J Scambler, Philip L Beales, Plagnol, Richard D Emes, Roy, Sarah Hull, Schultz, Shoemark, Speder, Stephen L Hart, Tarkar, Tewari, Xu, Yang, Zhang   +45 more
core   +3 more sources

Mitochondrial control of ciliary gene expression and structure in striatal neurons

The Journal of Physiology, EarlyView.
Abstract figure legend Neurons drive animal behaviour by receiving and transmitting information and require energy, primarily supplied by mitochondria, to function. Additionally, neurons need to sense environmental changes to adapt, a function that is locally played by the primary cilia.
Dogukan H. Ulgen, Alessandro Chioino, Olivia Zanoletti, Albert Quintana, Elisenda Sanz, Carmen Sandi   +5 more
wiley   +1 more source

Primary Cilia and Their Role in Acquired Heart Disease

Cells, 2022
Primary cilia are non-motile plasma membrane extrusions that display a variety of receptors and mechanosensors. Loss of function results in ciliopathies, which have been strongly linked with congenital heart disease, as well as abnormal development and ...
Zachariah E. Hale, Junichi Sadoshima
doaj   +1 more source

An inducible CiliaGFP mouse model for in vivo visualization and analysis of cilia in live tissue [PDF]

, 2013
BACKGROUND: Cilia are found on nearly every cell type in the mammalian body, and have been historically classified as either motile or immotile. Motile cilia are important for fluid and cellular movement; however, the roles of non-motile or primary cilia
Amber K O’Connor, Bradley K Yoder, Courtney J Haycraft, Erik B Malarkey, Mandy J Croyle, Nicolas F Berbari, O’Connor, Amber K, P Darwin Bell, Peter Hohenstein, Robert A Kesterson   +9 more
core   +2 more sources

Autonomous and non-cell autonomous etiology of ciliopathy associated structural birth defects [PDF]

, 2023
Richard Francis, Jovenal T. San Agustin, Heather L. Szabo‐Rogers, Cheng Cui, Julie A. Jonassen, Thibaut Eguether, John A. Follit, Cecilia Lo, Gregory J. Pazour   +8 more
openalex   +1 more source

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source

Bioinformatic analysis of ciliary transition zone proteins reveals insights into the evolution of ciliopathy networks [PDF]

, 2016
This is the final version of the article. Available from the publisher via the DOI in this record.BACKGROUND: Cilia are critical for diverse functions, from motility to signal transduction, and ciliary dysfunction causes inherited diseases termed ...
Barker, AR, Dawe, HR, Fry, K, Renzaglia, KS   +3 more
core   +1 more source

RNA Sequencing for Rare Disease Diagnosis in a South African Family: A Novel Exon Elongation Event in OFD1

American Journal of Medical Genetics Part A, EarlyView.
Jana van der Westhuizen, Vicente A. Yépez, Shahida Moosa   +2 more
wiley   +1 more source

Educational paper [PDF]

European Journal of Pediatrics, 2011
Cilia are antenna-like organelles found on the surface of most cells. They transduce molecular signals and facilitate interactions between cells and their environment. Ciliary dysfunction has been shown to underlie a broad range of overlapping, clinically and genetically heterogeneous phenotypes, collectively termed ciliopathies.
openaire   +2 more sources

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome [PDF]

, 2015
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development.
Aza-Blac, P, Azam, M, Bertini, E, Boltshauser, E, Borgatti, R, Boustany, RM, Clericuzio, CL, Copeland, B, D Arrigo, S, Dobyns, WB, Dynlacht, BD, Emma, F, Freilinger, M, Gabriel, SB, Gleeson, JG, Heynen, SG, Hildebrandt, F, Hofree, M, Ideker, T, İncecik, F, Johnson, CA, Kim, J, Kim, S, Lee, JE, Mazza, T, Miccinilli, E, Mikati, M, Milisa-Drautz, J, Mirabelli-Badenier, M, Moroni, I, Romani, M, Romaniello, R, Roosing, S, Rosti, RO, Schroth, J, Scott, E, Silhavy, JL, Stanzial, F, Steinlin, M, Strømme, P, Swoboda, KJ, Valente, EM, Valente, EM, Vaux, KK, Zaki, MS   +44 more
core   +7 more sources