Article
Biochemistry & Molecular Biology
Lucie Sedova, Ivana Bukova, Pavla Bazantova, Silvia Petrezselyova, Jan Prochazka, Elena Skolnikova, Dagmar Zudova, Josef Vcelak, Pavol Makovicky, Bela Bendlova, Ondrej Seda, Radislav Sedlacek
Summary: Deletion of the Nme7 gene in rats resulted in a variety of symptoms consistent with primary ciliary dyskinesia, including hydrocephalus, situs inversus totalis, growth retardation, and sterility. Heterozygous rats developed normally without symptoms of primary ciliary dyskinesia. Transcriptomic analysis of liver and lungs confirmed defects in cell function and viability following Nme7 gene deletion.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Connie C. Hou, Danielle Li, Bethany C. Berry, Shaokuan Zheng, Rona S. Carroll, Mark D. Johnson, Hong Wei Yang
Summary: Heterozygous FOXJ1 mutations are associated with both obstructive and communicating hydrocephalus in humans. These mutations impair multiciliated ependymal cell differentiation, leading to a decrease in mature ependymal cell and motile cilia numbers, abnormal axonemes, and disruptions in CSF flow. CSF flow obstruction may develop secondarily in some patients with FOXJ1 mutations.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Hongye Zhang, Meimei Yang, Jianhua Zhang, Li Li, Tianyuan Guan, Jiaxin Liu, Xuanwei Gong, Fan Yang, Sanbing Shen, Min Liu, Yongfeng Han
Summary: Research shows that Stk36 and Ulk4 genes are crucial for cerebrospinal fluid flow and ciliogenesis. They interact with the Foxj1 transcription factor pathway to regulate ciliogenesis and cilia function, thus affecting cerebrospinal fluid flow.
Review
Immunology
Yijian Yang, Jian He, Yuchang Wang, Chuansen Wang, Changwu Tan, Junbo Liao, Lei Tong, Gelei Xiao
Summary: The choroid plexus, consisting mainly of choroid plexus epithelium cells, is located in the lateral ventricles of the brain. Its main function is thought to be the secretion and regulation of cerebrospinal fluid, with additional functions such as assisting in waste removal, participating in apoptosis, and aiding in brain repair and immune response. Abnormalities in choroid plexus epithelium cells, along with inflammation and changes in cilia, may lead to abnormal conditions in cerebrospinal fluid and the development of hydrocephalus. This review discusses the pathophysiological mechanism of hydrocephalus and explores the potential use of choroid plexus epithelium cells as a therapeutic target.
JOURNAL OF NEUROINFLAMMATION
(2022)
Article
Multidisciplinary Sciences
Dejun Yang, Hongwei Yang, Gabrielle Luiselli, Charles Ogagan, Huijun Dai, Lucinda Chiu, Rona S. Carroll, Mark D. Johnson
Summary: Deletions in CWH43 may contribute to adult-onset iNPH by selectively downregulating L1CAM in the ventricular and subventricular zones, leading to changes in N-glycosylation, cell membrane association, cleavage, shedding, and nuclear translocation of L1CAM, ultimately affecting intracellular signaling pathways.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Article
Cell Biology
Tingting Zhang, Shiquan Cui, Xinrui Xiong, Ying Liu, Qilin Cao, Xu-Gang Xia, Hongxia Zhou
Summary: In this study, a tailored rat model for PIH1D3-associated ciliopathy was successfully developed. The model exhibited the cardinal features of ciliopathy and revealed the involvement of PIH1D3 protein in regulating the structure and function of dynein arms in cilia by interacting with proteins responsible for their pre-assembly and uploading.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Review
Neurosciences
Weiye Ji, Zhi Tang, Yibing Chen, Chuansen Wang, Changwu Tan, Junbo Liao, Lei Tong, Gelei Xiao
Summary: Cerebrospinal fluid (CSF) plays a crucial role in brain homeostasis and development, and malfunctioning ependymal cilia may lead to hydrocephalus. This review presents the physiological functions of ependymal cilia and discusses treatment options for hydrocephalus.
FRONTIERS IN MOLECULAR NEUROSCIENCE
(2022)
Article
Clinical Neurology
Kilian Hett, Jarrod J. J. Eisma, Adreanna B. B. Hernandez, Colin D. D. McKnight, Alexander Song, Jason Elenberger, Ciaran Considine, Manus J. J. Donahue, Daniel O. O. Claassen
Summary: Investigations of cerebrospinal fluid (CSF) flow aberrations in Huntington's disease (HD) revealed a decrease in net CSF flow and higher CSF flow velocity in HD patients compared to controls. Disease severity was positively correlated with cranial diastolic flow. These findings suggest that CSF flow dynamics change with disease severity in HD.
ANNALS OF NEUROLOGY
(2023)
Review
Genetics & Heredity
Julia Wallmeier, Marlene Dallmayer, Heymut Omran
Summary: Hydrocephalus is a common condition in newborns, with causes ranging from intraventricular hemorrhage to genetic changes. Ciliopathies, a group of diseases characterized by dysfunction or absence of cilia, can also lead to hydrocephalus. Nonmotile ciliopathies are often associated with severe prenatal hydrocephalus and other brain malformations, while motile ciliopathies, particularly those related to multiciliogenesis defects, can cause hydrocephalus and chronic lung disease.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
(2022)
Article
Cell Biology
Xinhua Li, Shuting Yang, Vishwa Deepk, Zahra Chinipardaz, Shuying Yang
Summary: This study provides evidence for the presence of cilia in chondrocytes and throughout bone cells in vivo, as well as revealing the distribution of cilia and centrioles in different tissues and organs.
Article
Cell Biology
Danyon Harkins, Tracey J. Harvey, Cooper Atterton, Ingrid Miller, Laura Currey, Sabrina Oishi, Maria Kasherman, Raul Ayala Davila, Lucy Harris, Kathryn Green, Hannah Piper, Robert G. Parton, Stefan Thor, Helen M. Cooper, Michael Piper
Summary: The transcription factor NFIX plays a pivotal role in the regulation of cell adhesion within ependymal cells of the lateral ventricles, with Nfix(-/-) mice exhibiting abnormal cilia structure and disrupted localization of adhesion proteins.
Article
Cell Biology
Pablo Lopez-Jimenez, Sara Perez-Martin, Ines Hidalgo, Francesc R. Garcia-Gonzalo, Jesus Page, Rocio Gomez
Summary: Cilia play important roles in the airways and reproductive system as motile cilia beat to displace extracellular fluids, while primary cilia function as sensory organelles detecting signals from the external environment. Dysfunction of cilia is associated with genetic diseases and some types of cancer. In mouse meiosis, solitary cilia were found in zygotene spermatocytes, suggesting a potential sensory role affecting cyst function during prophase I.
Article
Oncology
Xinyue Zhao, Haijun Ge, Wenshuai Xu, Chongsheng Cheng, Wangji Zhou, Yan Xu, Junping Fan, Yaping Liu, Xinlun Tian, Kai-Feng Xu, Xue Zhang
Summary: This study identified novel CFAP54 pathogenic variants in PCD patients and validated their pathogenicity through mouse models. The study is of great significance for expanding the gene spectrum associated with PCD and improving future genetic testing.
FRONTIERS OF MEDICINE
(2023)
Article
Neurosciences
Phan Q. Duy, Ana B. W. Greenberg, William E. Butler, Kristopher T. Kahle
Summary: This article reviews human and animal evidence regarding the role of motile cilia in hydrocephalus and suggests a need to reconsider the cilia hypothesis. It argues that ependymal cilia may not be the primary driver of cerebrospinal fluid movement in the human brain, especially during fetal development. Additionally, it highlights that motile ciliopathies causing hydrocephalus are rare in humans and suggests that other factors, such as altered neurodevelopment, may be involved. Further research is needed to understand the link between motile cilia, cerebrospinal fluid physiology, and brain development.
NEUROBIOLOGY OF DISEASE
(2022)
Article
Cell Biology
Valentino Clemente, Asumi Hoshino, Joyce Meints, Mihir Shetty, Tim Starr, Michael Lee, Martina Bazzaro
Summary: UNC-45A is a cytoskeletal-associated protein that plays a role in regulating the actomyosin system and destabilizing microtubules. It is overexpressed in human cancers, particularly in ovarian cancer patients resistant to the drug paclitaxel. UNC-45A is enriched in highly proliferating cells and microtubule-rich areas, suggesting its potential role in ovarian cancer and neurodegenerative diseases.
Review
Developmental Biology
Cheng Shi, Pengfei Jiao, Zhiyi Chen, Lan Ma, Siyue Yao
Summary: This review discusses the molecular etiology of congenital craniofacial abnormalities, with a focus on the role and mechanism of noncoding RNAs in regulating craniofacial development. Aberrant expression of noncoding RNAs has been implicated in the pathogenesis of craniofacial abnormalities, providing potential therapeutic targets.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Hideru Togashi, Steven Ray Davis, Makoto Sato
Summary: Tile patterns, regulated by cell adhesion molecules, are regular arrangements of cells that play important functional roles in multicellular organisms. The physical constraints and cell adhesion regulate both cell shape and tissue morphogenesis.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Armen Khanbabei, Lina Segura, Cynthia Petrossian, Aaron Lemus, Ithan Cano, Courtney Frazier, Armen Halajyan, Donnie Ca, Mariano Loza-Coll
Summary: This article investigates the genetic regulatory mechanisms of Drosophila intestinal stem cells. The study found that most target genes co-regulated by Esg and STAT show a consistent gene expression pattern. However, manipulating these validated targets in vivo rarely replicated the effects of manipulating Esg and STAT, suggesting the presence of complex genetic interactions among the downstream targets of these two master regulator genes.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Bayley J. Waters, Zoe R. Birman, Matthew R. Wagner, Julia Lemanski, Barak Blum
Summary: Researchers found that conditional deletion of Robo2 in adult mice led to a significant loss of islet architecture without affecting beta cell identity or function, suggesting that Robo2 plays a role in actively maintaining adult islet architecture. Understanding the factors required for islet architecture maintenance is crucial for developing future diabetes therapies.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Rhiannon Clements, Tyler Smith, Luke Cowart, Jennifer Zhumi, Alan Sherrod, Aidan Cahill, Ginger L. Hunter
Summary: Cell protrusions play a crucial role in regulating cell activities during development. By studying the regulation mechanism in fruit fly sensory bristle patterning, it was found that Myosin XV is essential for the dynamics of signaling filopodia and promotes long-range Notch signaling.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Margaret Keating, Ryan Hagle, Daniel Osorio-Mendez, Anjelica Rodriguez-Parks, Sarah I. Almutawa, Junsu Kang
Summary: Knock-in reporter (KI) animals are essential for studying gene expression in biomedical research. This study developed a new strategy using minicircle technology and a minimal promoter to enhance knock-in events and establish stable KI transgenic reporter lines. The study also highlighted the importance of selecting the proper KI line due to potential inappropriate influence of genome editing on reporter gene expression.
DEVELOPMENTAL BIOLOGY
(2024)
Article
Developmental Biology
Christian Altbuerger, Meta Rath, Daniel Armbruster, Wolfgang Driever
Summary: This study reveals that Neurog1 and Olig2 transcription factors have differential requirements for the development of dopaminergic neurons, and they integrate local patterning signals and Notch neurogenic selection signaling to specify the progenitor population and initiate neurogenesis and differentiation.
DEVELOPMENTAL BIOLOGY
(2024)