Centrosome-kinase fusions promote oncogenic signaling and disrupt centrosome function in myeloproliferative neoplasms. [PDF]
PLoS ONE, 2014 Chromosomal translocations observed in myeloproliferative neoplasms (MPNs) frequently fuse genes that encode centrosome proteins and tyrosine kinases. This causes constitutive activation of the kinase resulting in aberrant, proliferative signaling.
Joanna Y Lee +3 more
doaj +1 more source
Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]
, 2019 X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal organoid
Chang, Chia-Ching +18 more
core +2 more sources
Tsc Gene Locus Disruption and Differences in Renal Epithelial Extracellular Vesicles
Frontiers in Physiology, 2021 In tuberous sclerosis complex (TSC), Tsc2 mutations are associated with more severe disease manifestations than Tsc1 mutations and the role of extracellular vesicles (EVs) in this context is not yet studied.
Prashant Kumar +8 more
doaj +1 more source
Expanding on the involvement of primary cilia in neurological function through observing EEG/EMG changes in different genotypic mice [PDF]
, 2021 Primary cilia have been known to regulate neurological functions, as primary cilia exist on astrocytes and neurons in the mature brain. More is being discovered about primary cilia and their role in the vertebrate nervous system; however, little is known
Palermo, Gabriella M
core +1 more source
Ciliary Proteins Repurposed by the Synaptic Ribbon: Trafficking Myristoylated Proteins at Rod Photoreceptor Synapses [PDF]
, 2022 The Unc119 protein mediates transport of myristoylated proteins to the photoreceptor outer segment, a specialized primary cilium. This transport activity is regulated by the GTPase Arl3 as well as by Arl13b and Rp2 that control Arl3 activation ...
Carius, Yvonne +9 more
core +1 more source
The Primary Cilia are Associated with the Axon Initial Segment in Neurons
Advanced Science, Volume 12, Issue 9, March 6, 2025.This study identifies ciliary SSTR3 not only affects primary ciliary signaling, but also plays an important role in synaptic function, learning and memory, and neuron excitability. Furthermore, this research reveals that loss of SSTR3 leads to a decrease in Akt‐dependent CREB‐mediated transcription of AnkG.
Han Wang +10 more
wiley +1 more source
Conditional knockout mice for the distal appendage protein CEP164 reveal its essential roles in airway multiciliated cell differentiation. [PDF]
PLoS Genetics, 2017 Multiciliated cells of the airways, brain ventricles, and female reproductive tract provide the motive force for mucociliary clearance, cerebrospinal fluid circulation, and ovum transport.
Saul S Siller +10 more
doaj +1 more source
Characterization of primary cilia during the differentiation of retinal ganglion cells in the zebrafish [PDF]
, 2016 BACKGROUND: Retinal ganglion cell (RGC) differentiation in vivo is a highly stereotyped process, likely resulting from the interaction of cell type-specific transcription factors and tissue-derived signaling factors.
Badano, Jose L. +4 more
core +3 more sources
Ptch2/Gas1 and Ptch1/Boc differentially regulate Hedgehog signalling in murine primordial germ cell migration. [PDF]
, 2020 Gas1 and Boc/Cdon act as co-receptors in the vertebrate Hedgehog signalling pathway, but the nature of their interaction with the primary Ptch1/2 receptors remains unclear.
A Kolpak +57 more
core +3 more sources
Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder
Clinical Genetics, Volume 107, Issue 3, Page 311-322, March 2025.We report two unrelated families with biallelic variants in LRRC45 and show impaired ciliogenesis in patient cells. We propose that defects in LRRC45 lead to a novel subtype of ciliopathy with developmental abnormalities of the brain. Taken together this study adds to a growing body of evidence for the physiological relevance of distal appendage ...
Periyasamy Radhakrishnan +14 more
wiley +1 more source