The novel ciliogenesis regulator DYRK2 governs Hedgehog signaling during mouse embryogenesis
eLife, 2020 Mammalian Hedgehog (Hh) signaling plays key roles in embryogenesis and uniquely requires primary cilia. Functional analyses of several ciliogenesis-related genes led to the discovery of the developmental diseases known as ciliopathies.
Saishu Yoshida +8 more
doaj +1 more source
Primary Cilia Formation Does Not Rely on WNT/β-Catenin Signaling
Frontiers in Cell and Developmental Biology, 2021 Primary cilia act as crucial regulators of embryo development and tissue homeostasis. They are instrumental for modulation of several signaling pathways, including Hedgehog, WNT, and TGF-β.
Ondrej Bernatik +4 more
doaj +1 more source
eLife, 2016 To elucidate the role of centriolar satellites in ciliogenesis, we deleted the gene encoding the PCM1 protein, an integral component of satellites. PCM1 null human cells show marked defects in ciliogenesis, precipitated by the loss of specific proteins ...
Lei Wang +4 more
doaj +1 more source
RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry [PDF]
, 2018 Ciliopathies are a group of genetically heterogeneous disorders, characterized by defects in cilia genesis or maintenance. Mutations in the RPGR gene and its interacting partners, RPGRIP1 and RPGRIP1L, cause ciliopathies, but the function of their ...
Aguirre +68 more
core +3 more sources
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
, 2019 The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Robust interaction of IFT70 with IFT52–IFT88 in the IFT-B complex is required for ciliogenesis
Biology Open, 2018 In the intraflagellar transport (IFT) machinery, the IFT-B and IFT-A complexes mediate anterograde and retrograde ciliary protein trafficking, respectively.
Ryota Takei +2 more
doaj +1 more source
The ciliary GTPase Arl13b regulates cell migration and cell cycle progression [PDF]
, 2016 Acknowledgments We acknowledge Prof. Tamara Caspary from Emory University for kindly providing the cell lines, Linda Duncan from the University of Aberdeen Ian Fraser Cytometry Center for help with flow cytometry.
Clancy, Hannah +6 more
core +2 more sources
Linking specification to differentiation:From proneural genes to the regulation of ciliogenesis [PDF]
, 2011 Much of developmental biology is concerned with the processes by which cells become committed to particular fates in a regulated fashion, whereas cell biology addresses, among other things, the variety of differentiated forms and functions that cells can
Jarman, Andrew +2 more
core +2 more sources
A systems-biology approach to understanding the ciliopathy disorders. [PDF]
, 2011 'Ciliopathies' are an emerging class of genetic multisystemic human disorders that are caused by a multitude of largely unrelated genes that affect ciliary structure/function.
Gleeson, Joseph G, Lee, Ji Eun
core +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 +60 more
core +1 more source