Oncogenic FGFR Fusions Produce Centrosome and Cilia Defects by Ectopic Signaling.
TLDR
In this article, a growing list of signaling molecules is found to function through cilia and control ciliogenesis, including the fibroblast growth factor receptors (FGFR), which contributes to pathogenesis of the FGFR-mediated genetic disorders.Abstract:Â
A single primary cilium projects from most vertebrate cells to guide cell fate decisions. A growing list of signaling molecules is found to function through cilia and control ciliogenesis, including the fibroblast growth factor receptors (FGFR). Aberrant FGFR activity produces abnormal cilia with deregulated signaling, which contributes to pathogenesis of the FGFR-mediated genetic disorders. FGFR lesions are also found in cancer, raising a possibility of cilia involvement in the neoplastic transformation and tumor progression. Here, we focus on FGFR gene fusions, and discuss the possible mechanisms by which they function as oncogenic drivers. We show that a substantial portion of the FGFR fusion partners are proteins associated with the centrosome cycle, including organization of the mitotic spindle and ciliogenesis. The functions of centrosome proteins are often lost with the gene fusion, leading to haploinsufficiency that induces cilia loss and deregulated cell division. We speculate that this complements the ectopic FGFR activity and drives the FGFR fusion cancers.read more
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Identification of Two Novel DNAAF2 Variants in Two Consanguineous Families with Primary Ciliary Dyskinesia.
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Roles of the FGF-FGFR Signaling System in Cancer Development and Inflammation.
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TL;DR: For multi-cellular organisms to organize tissues, their cells must communicate with each other as discussed by the authors, and for multicell cells to organize themselves, they need to communicate each other.
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Case Report: DNAAF4 Variants Cause Primary Ciliary Dyskinesia and Infertility in Two Han Chinese Families
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TL;DR: This study linked DNAAF4 to asthenoteratozoospermia and likely scoliosis in patients with PCD and identified a novel variant c.733C > T, which expanded the spectrum ofDNAAF4 variants.
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Identification of a novel splice site mutation in the DNAAF4 gene of a Chinese patient with primary ciliary dyskinesia
TL;DR: In this paper , a single patient belonging to a Chinese family was recruited, having been diagnosed with primary ciliary dyskinesia (PCD) and asthenoteratozoospermia.
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