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Cells
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The Role of Cilia in Health and Diseases—2nd Edition
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The Role of Cilia in Health and Diseases—2nd Edition

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: 20 July 2025 | Viewed by 1503

Special Issue Editor

Dr. Rim Hjeij

E-Mail Website
Guest Editor
Department of General Paediatrics, Universitätsklinikum Münster, Muenster, Germany
Interests: identification of new ciliary genes/components/proteins; deciphering the molecular structure of human motile cilia; genetic and molecular diagnosis of motile ciliopathies; the role of outer dynein arm docking complex in primary ciliary dyskinesia
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cilia, hair-like tiny organelles present on almost every cell type in the human body, have different important functions in maintaining the health and organization of the human body. Primary cilia are known for their sensory roles in development, proliferation, differentiation, and cell survival, whereas motile cilia/flagella are implicated in preserving functional airway clearance, maintaining appropriate cerebrospinal fluid flow, and ensuring correct left–right body asymmetry, as well as male and female reproductive function. Diseases resulting from aberrant ciliary function and/or motility caused by genetic mutations in ciliary genes are known as ciliopathies. Primary Ciliary Dyskinesia (PCD) is a motile ciliopathy comprising defects in the respiratory, reproductive, central nervous, and embryonic nodal systems. Due to the broad spectrum of anomalies in multiple organ systems, PCD and other motile ciliopathies must be thoroughly investigated. The identification of motile ciliopathy-associated genes is also of great importance in developing future gene therapies.

This Special Issue will discuss the role of motile cilia in human health and its pathophysiological conditions. We encourage you to contribute to this Special Issue of Cells by submitting a research article, a review, or a perspective or opinion paper dedicated to motile cilia and their role in human health and diseases. Articles on therapeutics involving cilial function are also encouraged.

Dr. Rim Hjeij
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • motile cilia
  • motile ciliopathy
  • Primary Ciliary Dyskinesia
  • genetic screening
  • bronchiectasis
  • hydrocephalus
  • laterality defects
  • infertility
  • gene therapy

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Related Special Issue

Published Papers (2 papers)

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Review

28 pages, 9850 KiB  
Review
Primary Cilia, Hypoxia, and Liver Dysfunction: A New Perspective on Biliary Atresia
by Patrícia Quelhas, Diogo Morgado and Jorge dos Santos
Cells 2025, 14(8), 596; https://doi.org/10.3390/cells14080596 - 15 Apr 2025
Viewed by 659
Abstract
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes are linked to several pediatric conditions, including renal-hepatic diseases and [...] Read more.
Ciliopathies are disorders that affect primary or secondary cellular cilia or structures associated with ciliary function. Primary cilia (PC) are essential for metabolic regulation and embryonic development, and pathogenic variants in cilia-related genes are linked to several pediatric conditions, including renal-hepatic diseases and congenital defects. Biliary atresia (BA) is a progressive infantile cholangiopathy and the leading cause of pediatric liver transplantation. Although the exact etiology of BA remains unclear, evidence suggests a multifactorial pathogenesis influenced by both genetic and environmental factors. Patients with BA and laterality defects exhibit genetic variants associated with ciliopathies. Interestingly, even isolated BA without extrahepatic anomalies presents morphological and functional ciliary abnormalities, suggesting that environmental triggers may disrupt the ciliary function. Among these factors, hypoxia has emerged as a potential modulator of this dysfunction. Hypoxia-inducible factor 1-alpha (HIF-1α) plays a central role in hepatic responses to oxygen deprivation, influencing bile duct remodeling and fibrosis, which are key processes in BA progression. This review explores the crosstalk between hypoxia and hepatic ciliopathies, with a focus on BA. It discusses the molecular mechanisms through which hypoxia may drive disease progression and examines the therapeutic potential of targeting hypoxia-related pathways. Understanding how oxygen deprivation influences ciliary function may open new avenues for treating biliary ciliopathies and improving patient outcomes. Full article
(This article belongs to the Special Issue The Role of Cilia in Health and Diseases—2nd Edition)
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19 pages, 1304 KiB  
Review
Ciliary Ion Channels in Polycystic Kidney Disease
by Lubna A. Alshriem, Raghad Buqaileh, Qasim Alorjani and Wissam AbouAlaiwi
Cells 2025, 14(6), 459; https://doi.org/10.3390/cells14060459 - 19 Mar 2025
Viewed by 630
Abstract
Polycystic kidney disease (PKD) is the most common hereditary disorder that disrupts renal function and frequently progresses to end-stage renal disease. Recent advances have elucidated the critical role of primary cilia and ciliary ion channels, including transient receptor potential (TRP) channels, cystic fibrosis [...] Read more.
Polycystic kidney disease (PKD) is the most common hereditary disorder that disrupts renal function and frequently progresses to end-stage renal disease. Recent advances have elucidated the critical role of primary cilia and ciliary ion channels, including transient receptor potential (TRP) channels, cystic fibrosis transmembrane conductance regulator (CFTR), and polycystin channels, in the pathogenesis of PKD. While some channels primarily function as chloride conductance channels (e.g., CFTR), others primarily regulate calcium (Ca+2) homeostasis. These ion channels are essential for cellular signaling and maintaining the normal kidney architecture. Dysregulation of these pathways due to genetic mutations in PKD1 and PKD2 leads to disrupted Ca+2 and cAMP signaling, aberrant fluid secretion, and uncontrolled cellular proliferation, resulting in tubular cystogenesis. Understanding the molecular mechanisms underlying these dysfunctions has opened the door for innovative therapeutic strategies, including TRPV4 activators, CFTR inhibitors, and calcimimetics, to mitigate cyst growth and preserve renal function. This review summarizes the current knowledge on the roles of ciliary ion channels in PKD pathophysiology, highlights therapeutic interventions targeting these channels, and identifies future research directions for improving patient outcomes. Full article
(This article belongs to the Special Issue The Role of Cilia in Health and Diseases—2nd Edition)
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