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Updates on Cilia Biology and Cilia-Associated Disorders
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Updates on Cilia Biology and Cilia-Associated Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 January 2023) | Viewed by 6272

Special Issue Editors

Dr. Manuela Morleo

E-Mail Website
Guest Editor
1. Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078 Pozzuoli, Naples, Italy
2. Medical Genetics, Department of Translational Medical Sciences, Federico II University of Naples, Via Sergio Pansini 5, 80131 Naples, Italy
Interests: ciliopathies; cilia biology; autophagy; rare diseases; next generation sequencing; undiagnosed diseases; medical genetics
Dr. Brunella Franco

E-Mail Website
Guest Editor
1. Telethon Institute of Genetics and Medicine (TIGEM), Medical Genetics Service, Department Translational Medicine, Federico II University Naples, Naples, Italy
2. School for Advanced Studies Naples, Naples, Italy
Interests: ciliopathies; cilia biology; mitochondrial disorders; X-chromosome; miRNA and diseases; OFD syndromes; renal cystic disease

Special Issue Information

Dear Colleagues, 

Cilia protrude from vertebrate cells and come in different flavors depending on the microtubular structure and function (sensory vs. motile). Sensory, immotile cilia display mechanosensory and chemosensory properties that allow detection, integration, and transduction of a variety of extracellular signals (e.g., mechanical stress, paracrine signaling). Moreover, impairment of these organelles has been associated with inherited diseases known as ciliopathies. Ciliopathies affecting sensory cilia usually include multiorgan phenotypes. On the other hand, dysfunction of motile cilia results in phenotypes ranging from isolated laterality defects or subfertility in males to primary ciliary dyskinesia. In addition, evidence has demonstrated deregulation of sensory cilia in human cancers.

This Special Issue will host original contributions, perspectives, and reviews with the aim to contribute to an advancement of the current understanding of cilia in physiological and pathological conditions.

We look forward to your contribution.

Dr. Manuela Morleo
Dr. Brunella Franco
Guest Editors

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. Genes is an international peer-reviewed open access monthly 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 2600 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.

Published Papers (3 papers)

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Research

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15 pages, 993 KiB  
Article
Challenges in Diagnosing Primary Ciliary Dyskinesia in a Brazilian Tertiary Hospital
by Mariana Dalbo Contrera Toro, José Dirceu Ribeiro, Fernando Augusto Lima Marson, Érica Ortiz, Adyléia Aparecida Dalbo Contrera Toro, Carmen Silvia Bertuzzo, Marcus Herbert Jones and Eulália Sakano
Genes 2022, 13(7), 1252; https://doi.org/10.3390/genes13071252 - 15 Jul 2022
Cited by 3 | Viewed by 1818
Abstract
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, [...] Read more.
Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related genes. Those patients were classified according to the degree of suspicion for PCD. In our study, we enrolled thirty-seven cPCD individuals; 20/37 (54.1%) had chronic rhinosinusitis, 28/37 (75.6%) had bronchiectasis, and 29/37 (78.4%) had recurrent pneumonia. A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. The median age at diagnosis was 13 years, and the median time between suspicion and diagnosis was four years. Sixteen patients had class I electron microscopy alterations, seven had class II alterations, and 14 had normal transmission electron microscopy according to the international consensus guideline for reporting transmission electron microscopy results in the diagnosis of PCD (BEAT-PCD TEM Criteria). Genetic screening for pathogenic variants in PCD-related genes and transmission electron microscopy can help determine the PCD diagnosis; however, they are still unavailable to all individuals with clinical suspicion in Brazil. We described ultrastructural alterations found in our population along with the identification of pathogenic variants in PCD-related genes. Full article
(This article belongs to the Special Issue Updates on Cilia Biology and Cilia-Associated Disorders)
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17 pages, 8559 KiB  
Article
TTC30A and TTC30B Redundancy Protects IFT Complex B Integrity and Its Pivotal Role in Ciliogenesis
by Felix Hoffmann, Sylvia Bolz, Katrin Junger, Franziska Klose, Timm Schubert, Franziska Woerz, Karsten Boldt, Marius Ueffing and Tina Beyer
Genes 2022, 13(7), 1191; https://doi.org/10.3390/genes13071191 - 01 Jul 2022
Cited by 4 | Viewed by 1727
Abstract
Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of the IFT-B components are the paralogue proteins TTC30A and TTC30B. To investigate whether these proteins constitute [...] Read more.
Intraflagellar transport (IFT) is a microtubule-based system that supports the assembly and maintenance of cilia. The dysfunction of IFT leads to ciliopathies of variable severity. Two of the IFT-B components are the paralogue proteins TTC30A and TTC30B. To investigate whether these proteins constitute redundant functions, CRISPR/Cas9 was used to generate single TTC30A or B and double-knockout hTERT-RPE1 cells. Ciliogenesis assays showed the redundancy of both proteins while the polyglutamylation of cilia was affected in single knockouts. The localization of other IFT components was not affected by the depletion of a single paralogue. A loss of both proteins led to a severe ciliogenesis defect, resulting in no cilia formation, which was rescued by TTC30A or B. The redundancy can be explained by the highly similar interaction patterns of the paralogues; both equally interact with the IFT-B machinery. Our study demonstrates that a loss of one TTC30 paralogue can mostly be compensated by the other, thus preventing severe ciliary defects. However, cells assemble shorter cilia, which are potentially limited in their function, especially because of impaired polyglutamylation. A complete loss of both proteins leads to a deficit in IFT complex B integrity followed by disrupted IFT and subsequently no cilia formation. Full article
(This article belongs to the Special Issue Updates on Cilia Biology and Cilia-Associated Disorders)
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Review

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27 pages, 853 KiB  
Review
Cilia and Cancer: From Molecular Genetics to Therapeutic Strategies
by Pietro Carotenuto, Sergio A. Gradilone and Brunella Franco
Genes 2023, 14(7), 1428; https://doi.org/10.3390/genes14071428 - 11 Jul 2023
Cited by 3 | Viewed by 2198
Abstract
Cilia are microtubule-based organelles that project from the cell surface with motility or sensory functions. Primary cilia work as antennae to sense and transduce extracellular signals. Cilia critically control proliferation by mediating cell-extrinsic signals and by regulating cell cycle entry. Recent studies have [...] Read more.
Cilia are microtubule-based organelles that project from the cell surface with motility or sensory functions. Primary cilia work as antennae to sense and transduce extracellular signals. Cilia critically control proliferation by mediating cell-extrinsic signals and by regulating cell cycle entry. Recent studies have shown that primary cilia and their associated proteins also function in autophagy and genome stability, which are important players in oncogenesis. Abnormal functions of primary cilia may contribute to oncogenesis. Indeed, defective cilia can either promote or suppress cancers, depending on the cancer-initiating mutation, and the presence or absence of primary cilia is associated with specific cancer types. Together, these findings suggest that primary cilia play important, but distinct roles in different cancer types, opening up a completely new avenue of research to understand the biology and treatment of cancers. In this review, we discuss the roles of primary cilia in promoting or inhibiting oncogenesis based on the known or predicted functions of cilia and cilia-associated proteins in several key processes and related clinical implications. Full article
(This article belongs to the Special Issue Updates on Cilia Biology and Cilia-Associated Disorders)
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