Results 51 to 60 of about 4,814,966 (373)

Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype

American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023
Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani, Emily Woods, David A. Koolen, Charlotte W. Ockeloen, Sally Ann Lynch, Karl Kavanagh, John M. Graham Jr, Katheryn Grand, Tyler Mark Pierson, Jeffrey M. Chung, Meena Balasubramanian   +10 more
wiley   +1 more source

The primary cilium as a dual sensor of mechanochemical signals in chondrocytes [PDF]

, 2012
The primary cilium is an immotile, solitary, and microtubule-based structure that projects from cell surfaces into the extracellular environment. The primary cilium functions as a dual sensor, as mechanosensors and chemosensors.
Hayat Muhammad, Yoach Rais, Nicolai Miosge, Efrat Monsonego‐Ornan   +3 more
openalex   +4 more sources

PI3KC2α-dependent and VPS34-independent generation of PI3P controls primary cilium-mediated autophagy in response to shear stress

Nature Communications, 2020
Cells subjected to stress situations mobilize specific membranes and proteins to initiate autophagy. Phosphatidylinositol-3-phosphate (PI3P), a crucial lipid in membrane dynamics, is known to be essential in this context.
Asma Boukhalfa, A. Nascimbeni, D. Ramel, N. Dupont, E. Hirsch, S. Gayral, M. Laffargue, P. Codogno, E. Morel   +8 more
semanticscholar   +1 more source

Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium. [PDF]

, 2013
BACKGROUND: The primary cilium coordinates signalling in development, health and disease. Previously we have shown that the cilium is essential for the anabolic response to loading and the inflammatory response to interleukin-1β (IL-1β).
AC Lin, AK Wann, AK Wann, AM Malone, AR Sartori-Cintra, BL Thoms, BL Thoms, CA Clement, CA Clement, CF Chang, CJ Haycraft, CJ Haycraft, CR Thoma, D Kong, D Zhu, DA Hoey, DM Katschinski, E Verghese, EN Pugacheva, F Oeffner, GJ Pazour, HA Praetorius, J Kim, JB Catterall, JC Kim, JE Bohonowych, JE Lafont, JF Reiter, JH Moyer, JH Ryu, JM Gerdes, JR Marszalek, JT Eggenschwiler, KC Corbit, KC Corbit, L Schneider, M Windheim, MA Lancaster, MF Bijlsma, NV Prodromou, P Jaakkola, PD Taulman, PV Tran, R Rohatgi, RD Thornton, S Abdul-Majeed, S Kim, S Massinen, S Murakami, S Proulx-Bonneau, S Yang, SH Low, SM Nauli, SN Greer, SR McGlashan, SR McGlashan, T Caspary, TY Besschetnova, X Xue, Y Li, YJ Jung   +60 more
core   +1 more source

Enteric neurons show a primary cilium [PDF]

Journal of Cellular and Molecular Medicine, 2012
AbstractThe primary cilium is a non‐motile cilium whose structure is 9+0. It is involved in co‐ordinating cellular signal transduction pathways, developmental processes and tissue homeostasis. Defects in the structure or function of the primary cilium underlie numerous human diseases, collectively termed ciliopathies.
Mario Soriano, Ma José Luesma, Tomás Castiella, José Manuel García-Verdugo, Irene Cantarero, C. Junquera   +5 more
openaire   +5 more sources

Signaling in the primary cilium through the lens of the Hedgehog pathway

Wiley Interdisciplinary Reviews: Developmental Biology, 2020
Cilia are microtubule‐based, cell‐surface projections whose machinery is evolutionarily conserved. In vertebrates, cilia are observed on almost every cell type and are either motile or immotile.
E. Gigante, T. Caspary
semanticscholar   +1 more source

Multifaceted Functions of Rab23 on Primary Cilium-Mediated and Hedgehog Signaling-Mediated Cerebellar Granule Cell Proliferation

Journal of Neuroscience, 2021
Sonic hedgehog (Shh) signaling from the primary cilium drives cerebellar granule cell precursor (GCP) proliferation. Mutations of hedgehog (Hh) pathway repressors commonly cause medulloblastoma, the most prevalent and malignant childhood brain tumor that
Chh Hor, Jcw Lo, Als Cham, W. Leong, Elk Goh   +4 more
semanticscholar   +1 more source

Dynamics of the Primary Cilium in Shear Flow [PDF]

Biophysical Journal, 2012
In this work, the equilibrium shape and dynamics of a primary cilium under flow are investigated by using both theoretical modeling and experiment. The cilium is modeled as an elastic beam that may undergo large deflection due to the hydrodynamic load. Equilibrium results show that the anchoring effects of the basal body on the cilium axoneme behave as
Christopher R. Jacobs, Yuan-Nan Young, Matthew Downs   +2 more
openaire   +4 more sources

The primary cilium influences interleukin-1 beta-induced NF kappa B signalling by regulating IKK activity [PDF]

, 2014
The primary cilium is an organelle acting as a master regulator of cellular signalling. We have previously shown that disruption of primary cilia assembly, through targeting intraflagellar transport, is associated with muted nitric oxide and ...
A.K.T. Wann, Acunzo, Alford, Amin, Amin, Baeuerle, Baeuerle, Baeuerle, Besschetnova, Boehm, Bracken, Cheong, Clement, Corbit, Corbit, Crepieux, Crowe, DiDonato, Dodd, Dossumbekova, Gao, Gerdes, Griscavage, Hatakeyama, Haycraft, Hoffmann, Huber, J.P. Chapple, Jones, Jones, Kammanadiminti, Karsdal, Lambrecht, Lancaster, Lattke, M.M. Knight, Martel-Pelletier, McGlashan, McMurray, Nauli, Oeckinghaus, Parcellier, Park, Pearle, Plummer, Rohatgi, Saklatvala, Saklatvala, Schmidts, Schneider, Shim, Shiota, Simons, Smith, Takaki, Taulman, Tazawa, Tran, Vezina, Wann, Wann, Wann, Werner, Whitfield, Williams, Windheim, Wu, Zhao, Zhu   +68 more
core   +1 more source

Role of Primary Cilia in Skeletal Disorders

Stem Cells International, 2022
Primary cilia are highly conserved microtubule-based organelles that project from the cell surface into the extracellular environment and play important roles in mechanosensation, mechanotransduction, polarity maintenance, and cell behaviors during organ
Xinhua Li, Song Guo, Yang Su, Jiawei Lu, Donghua Hang, Shao Cao, Qiang Fu, Ziqing Li   +7 more
doaj   +1 more source