Article
Biochemistry & Molecular Biology
Mahmoud R. Fassad, Nisreen Rumman, Katrin Junger, Mitali P. Patel, James Thompson, Patricia Goggin, Marius Ueffing, Tina Beyer, Karsten Boldt, Jane S. Lucas, Hannah M. Mitchison
Summary: Ciliopathies are genetic disorders caused by defective cilia, manifesting with various clinical features. A homozygous 3-kb intragenic IFT74 deletion was detected in two affected siblings, leading to cilia structural abnormalities, skeletal dysplasia, and primary ciliary dyskinesia (PCD). This hypomorphic mutation results in residual protein function and a combined phenotype of skeletal ciliopathy and defective motile cilia.
HUMAN MOLECULAR GENETICS
(2023)
Review
Neurosciences
Vijay Kumar, Zobia Umair, Shiv Kumar, Ravi Shankar Goutam, Soochul Park, Jaebong Kim
Summary: This review discusses the role of motile cilia in CSF circulation and hydrocephalus, including a review of cilia and ciliated cells in the brain and the regulatory role of functional cilia in CSF circulation. Additionally, it examines the potential involvement of defective cilia in hydrocephalus.
FLUIDS AND BARRIERS OF THE CNS
(2021)
Review
Biochemistry & Molecular Biology
Jesus Eduardo Martin-Salazar, Diana Valverde
Summary: Primary cilia, non-motile organelles associated with the cell cycle, are formed through various mechanisms and are linked to gene complexes. Genetic defects can lead to faulty cilium formation and the occurrence of ciliopathies.
Article
Multidisciplinary Sciences
Lingxiao Tong, Jia Rao, Chenxi Yang, Jie Xu, Yijun Lu, Yuchen Zhang, Xiaohui Cang, Shanshan Xie, Jianhua Mao, Pingping Jiang
Summary: This study investigates the relationship between XPNPEP3 gene mutations and the pathogenesis of NPHPL1 and mitochondrial function. The study found that these mutations lead to elevated levels of mitochondrial XPNPEP3, causing mitochondrial dysfunction in urine tubular epithelial cells and lymphoblasts. Additionally, the study found that mitochondrial XPNPEP3 interacts with respiratory chain complex I and is required for its stability and activity.
Review
Cell Biology
Maulin M. Patel, Leonidas Tsiokas
Summary: The primary cilium is an important organelle present in most cell types, serving as a signaling center for various cellular processes. Abnormal cilia length can lead to a range of human diseases, known as ciliopathies. While cilia assembly is well understood, the process of cilia disassembly and its biological roles remain less clear and require further investigation for potential therapeutic targets.
Review
Biochemistry & Molecular Biology
Junjun Liu, Haibo Xie, Mengfan Wu, Yidan Hu, Yunsi Kang
Summary: Cilia are hair-like organelles that play crucial roles in signal transduction, organ development, and tissue homeostasis. Abnormalities in their structure and function can lead to ciliopathies. Zebrafish is an ideal model for cilia research due to its conserved structure and function. This review summarizes the different types of cilia in zebrafish and their roles in organogenesis, and discusses future prospects for ciliary research in this model organism.
Review
Biochemistry & Molecular Biology
Qi Wu, Xin Yu, Le Liu, Shengrong Sun, Si Sun
Summary: Autophagy is a key mechanism for maintaining homeostasis and responding to stress, while centrosome-phagy is a specific degradation process involved in various human disorders. Defects in autophagy contribute to aging and disease, with centrosome aberration playing a critical role in certain conditions.
CELL AND BIOSCIENCE
(2021)
Article
Multidisciplinary Sciences
Takayuki Yasunaga, Johannes Wiegel, Max D. Bergen, Martin Helmstaedter, Daniel Epting, Andrea Paolini, Oezgun Cicek, Gerald Radziwill, Christina Engel, Thomas Brox, Olaf Ronneberger, Peter Walentek, Maximilian H. Ulbrich, Gerd Walz
Summary: Motile cilia of Xenopus epidermis are anchored to microridge-like membrane protrusions to maintain their directionality. The actin cytoskeleton is dynamic during the early development of multiciliated cells, and subapical actin filaments are anchored to microridge-like structures. These observations identify microridge-like structures as an essential component of basal body rootlet anchoring in MCCs.
NATURE COMMUNICATIONS
(2022)
Article
Multidisciplinary Sciences
Tanveer Ul Islam, Yves Bellouard, M. J. Jaap den Toonder
Summary: Cilia, as a fundamental actuating unit in cellular biology, produce motions at submicrometer scales and drive crucial bioprocesses in both vertebrate and invertebrate organisms. By utilizing magnetic materials, artificial cilia with submicrometer dimensions and unprecedented deflection capabilities have been successfully fabricated, allowing for high motility at sizes equal to those of their smallest biological counterparts. This work has crossed the barrier of nanoscale motile cilia fabrication, paving the way for maximum control and manipulation of structures and processes at micro-and nanoscales.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
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
Multidisciplinary Sciences
Paul W. Chrystal, Nils J. Lambacher, Lance P. Doucette, James Bellingham, Elena R. Schiff, Nicole C. L. Noel, Chunmei Li, Sofia Tsiropoulou, Geoffrey A. Casey, Yi Zhai, Nathan J. Nadolski, Mohammed H. Majumder, Julia Tagoe, Fabiana D'Esposito, Maria Francesca Cordeiro, Susan Downes, Jill Clayton-Smith, Jamie Ellingford, Omar A. Mahroo, Jennifer C. Hockin, Michael E. Cheetham, Andrew R. Webster, Gert Jansen, Oliver E. Blacque, W. Ted Allison, Ping Yee Billie Au, Ian M. MacDonald, Gavin Arno, Michel R. Leroux
Summary: Motile and non-motile cilia have distinct functions and CFAP20 protein plays a critical role in both types. This study reveals the importance of CFAP20 in maintaining motile cilia function and the structural integrity of non-motile cilia inner junctions.
NATURE COMMUNICATIONS
(2022)
Article
Physics, Multidisciplinary
Ephraim S. Bililign, Florencio Balboa Usabiaga, Yehuda A. Ganan, Alexis Poncet, Vishal Soni, Sofia Magkiriadou, Michael J. Shelley, Denis Bartolo, William T. M. Irvine
Summary: The study demonstrates that adding transverse forces to an ensemble of colloidal spinners can organize them into odd elastic crystals, featuring self-propelled defects that create a 'self-kneading' crystal whorl state. The use of rotations allows for effective control of mass transport, showing the generic nature of this crystal state.
Article
Medicine, General & Internal
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee
Summary: The study suggests that TRIDs may be a potential therapeutic option for treating nonsense-mediated ciliopathies by restoring the expression of BBS2 and ALMS1 and correcting ciliary defects.
Review
Cell Biology
Marie Legendre, Laure-Emmanuelle Zaragosi, Hannah M. Mitchison
Summary: The article discusses the role of regulated airway epithelial development in the differentiation of motile ciliated cells in the human respiratory tract, as well as ciliary dysfunction caused by genetic mutations. Advances in understanding respiratory epithelial development and ciliary biology have the potential to improve disease diagnosis, management, and family counseling.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Article
Genetics & Heredity
Jennifer Lennon, Petra zur Lage, Alex von Kriegsheim, Andrew P. Jarman
Summary: Axonemal dynein motors are complex protein complexes that drive ciliary movement. The Drosophila homologues of DNAAF4 and DNAAF6, CG14921/Dnaaf4 and CG5048/Dnaaf6, are found to associate in a complex similar to R2TP and play a crucial role in dynein assembly during the development of motile cilia.
FRONTIERS IN GENETICS
(2022)
Article
Pediatrics
Ralph Fingerhut, Corina Rueegg, Orell Imahorn, Eva Sophie Lunde Pedersen, Claudia Kuehni, Sabina Gallati, Nicolas Regamey, Jurg Barben
Summary: This study describes the newborn screening (NBS) results for cystic fibrosis (CF) in Switzerland since 2011 and highlights the importance of gestational age and day of sampling in interpreting the results. Furthermore, it emphasizes the significance of a second immuno-reactive trypsinogen (IRT) measurement for inconclusive diagnoses.
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION
(2023)
Article
Oncology
Ceren Sunguc, Michael M. Hawkins, David L. Winter, Isabelle M. Dudley, Emma J. Heymer, Jop C. Teepen, Rodrigue S. Allodji, Fabien N. Belle, Francesca Bagnasco, Julianne Byrne, Edit Bardi, Cecile M. Ronckers, Nadia Haddy, Thorgerdur Gudmundsdottir, Stanislaw Garwicz, Momcilo Jankovic, Helena J. H. van der Pal, Maja Cesen Mazic, Christina Schindera, Desiree Grabow, Milena M. Maule, Peter Kaatsch, Melanie Kaiser, Brice Fresneau, Gisela Michel, Roderick Skinner, Thomas Wiebe, Carlotta Sacerdote, Zsuzsanna Jakab, Maria Winther Gunnes, Monica Terenziani, Jeanette F. Winther, Paivi M. Lahteenmaki, Lorna Zadravec Zaletel, Claudia E. Kuehni, Leontien C. Kremer, Riccardo Haupt, Florent de Vathaire, Lars Hjorth, Raoul C. Reulen
Summary: Childhood cancer survivors are at higher risk of developing salivary gland and tongue cancers, particularly those who have received radiotherapy or chemotherapy.
BRITISH JOURNAL OF CANCER
(2023)
Article
Oncology
Isabelle M. Dudley, Ceren Sunguc, Emma J. Heymer, David L. Winter, Jop C. Teepen, Fabien N. Belle, Edit Bardi, Francesca Bagnasco, Thorgerdur Gudmundsdottir, Roderick Skinner, Gisela Michel, Julianne Byrne, Hilde Ofstaas, Momcilo Jankovic, Maja Cesen Mazic, Luzius Mader, Jaqueline Loonen, Stanislaw Garwicz, Thomas Wiebe, Daniela Alessi, Rodrigue S. Allodji, Nadia Haddy, Desiree Grabow, Peter Kaatsch, Melanie Kaiser, Milena M. Maule, Zsuzsanna Jakab, Maria Winther Gunnes, Monica Terenziani, Lorna Zadravec Zaletel, Claudia E. Kuehni, Riccardo Haupt, Florent de Vathaire, Leontien C. Kremer, Paivi M. Lahteenmaki, Jeanette F. Winther, Lars Hjorth, Michael M. Hawkins, Raoul C. Reulen
Summary: This study found that survivors of Hodgkin lymphoma (HL) are at an increased risk of developing non-Hodgkin lymphoma (NHL) after treatment. The researchers also identified other types of childhood cancer survivors who are at risk of developing NHL, including survivors of Wilms tumor, leukemia, and bone sarcoma. Treatment with chemotherapy increased the risk of NHL, while treatment with radiotherapy did not.
Article
Respiratory System
Nicole Beydon, Panayiotis Kouis, June K. Marthin, Philipp Latzin, Murielle Colas, Stephanie D. Davis, Eric Haarman, Amanda Lea Harris, Claire Hogg, Emma Kilbride, Claudia E. Kuehni, Diana Marangu, Kim G. Nielsen, Catherine Pendergrast, Phil Robinson, Nisreen Rumman, Matthew Rutter, Woolf T. Walker, Thomas Ferkol, Jane S. Lucas
Summary: Nasal nitric oxide (nNO) is an essential diagnostic marker for primary ciliary dyskinesia (PCD), but there is a lack of guidelines for measuring nNO in pre-school-age children. A European Respiratory Society Task Force has developed this technical standard to standardize the sampling, analysis, and reporting of nNO for PCD diagnosis in all age groups, including pre-schoolers. The task force considers both chemiluminescence and electrochemical analyzers and proposes future research priorities for improving the reliability of nNO measurement in young children.
EUROPEAN RESPIRATORY JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Maren Ravndal, Lars Idorn, Anne Kathrine Moller Nielsen, Benjamin Kelly, Kim Gjerum Nielsen, Dorte Guldbrand Nielsen, Vibeke Hjortdal
Summary: This study examines the natural evolution of exercise capacity over a 10-year period in Danish Fontan patients and finds that their exercise capacity remains stable during this time. The study also shows that patients with higher levels of physical activity have higher predicted peak VO2 values in exercise tests. This research provides valuable insights for rehabilitation and exercise programs for Fontan patients.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2023)
Article
Pediatrics
Guido F. Laube, Marc-Andrea Heinzelmann, Katharina E. Roser, Claudia E. Kuehni, Luzius Mader
Summary: Little is known about the long-term social and professional outcomes in adults after pediatric kidney replacement therapy (KRT). In this study, adults who had kidney failure during childhood experienced adverse social and professional outcomes compared to the general population. Healthcare professionals should be more aware of this and provide additional psycho-social support to mitigate these risks.
PEDIATRIC NEPHROLOGY
(2023)
Article
Multidisciplinary Sciences
Nicolas Waespe, Simona Jurkovic Mlakar, Isabelle Dupanloup, Mohamed Aziz Rezgui, Henrique Bittencourt, Maja Krajinovic, Claudia E. Kuehni, Tiago Nava, Marc Ansari
Summary: This study developed a new data analysis pipeline that combines in vitro information with clinical WES data to identify genetic determinants in rare diseases. The analysis revealed 35 genes associated with sinusoidal obstruction syndrome (SOS), which are involved in various biological functions and processes such as cell growth and death, signalling molecules and interaction, cancer, and infectious disease.
Article
Allergy
Youn Ho Shin, Jimin Hwang, Rosie Kwon, Seung Won Lee, Min Seo Kim, Jae Il Shin, Dong Keon Yon
Summary: This study evaluates the global, regional, national, and temporal trends of the burden of asthma and atopic dermatitis (AD) from 1990 to 2019. It found that both conditions have increased in prevalence, especially among young people and in high-SDI countries.
Letter
Pediatrics
Ulrikka Nygaard, Joakim Bloch, Kia Hee Schultz Dungu, Christine Vollmond, Frederik Fouirnaies Buchvald, Kim Gjerum Nielsen, Kim Kristensen, Anja Poulsen, Nadja Hawwa Vissing
ARCHIVES OF DISEASE IN CHILDHOOD
(2023)
Article
Biochemistry & Molecular Biology
Yuehan Wang, Cecile M. Ronckers, Flora E. van Leeuwen, Chaya S. Moskowitz, Wendy Leisenring, Gregory T. Armstrong, Florent de Vathaire, Melissa M. Hudson, Claudia E. Kuehni, Michael A. Arnold, Charlotte Demoor-Goldschmidt, Daniel M. Green, Tara O. Henderson, Rebecca M. Howell, Matthew J. Ehrhardt, Joseph P. Neglia, Kevin C. Oeffinger, Helena J. H. van der Pal, Leslie L. Robison, Michael Schaapveld, Lucie M. Turcotte, Nicolas Waespe, Nadia Haddy, Ibrahima Diallo, K. Scott Baker, Amy Berrington de Gonzalez, Miriam R. Conces, Louis S. Constine, Mike Hawkins, Jacqueline J. Loonen, Marloes Louwerens, Geert O. Janssens, Lene Mellemkjaer, Raoul Reulen, Jeanette F. Winther, Leontien C. M. Kremer, Jop C. Teepen
Summary: In this study, the association between anthracycline-based chemotherapy and subsequent breast cancer risk in female childhood cancer survivors was investigated. The findings suggest that there is a dose-dependent increased risk of subsequent breast cancer associated with doxorubicin, with a more than twofold increased risk for survivors treated with a cumulative doxorubicin dose of 200 mg/m² or higher. Early initiation of breast cancer surveillance may be reasonable for these survivors.
Article
Pediatrics
Rahel Kasteler, Maria Otth, Florian S. Halbeisen, Luzius Mader, Florian Singer, Jochen Roessler, Nicolas X. von der Weid, Marc Ansari, Claudia E. Kuehni
Summary: Childhood cancer survivors exposed to lung-toxic treatments are at risk for pulmonary morbidity. This study investigated the lung function trajectories in these survivors over time and the association with lung-toxic treatments. The results showed that reduced pulmonary function was frequent but mainly of mild to moderate severity, and survivors treated with thoracic surgery had lower lung function compared to those without surgery.
PEDIATRIC PULMONOLOGY
(2023)
Article
Pediatrics
Maria Mallet, Rebeca Mozun, Cristina Ardura-Garcia, Eva S. L. Pedersen, Maja Jurca, Philipp Latzin, Claudia E. LUIS Study Grp, Alexander Moeller, Claudia Kuehni
Summary: This study compared the differences between children with dry night cough alone and those who also wheeze. The results showed that children with dry night cough tend to have more frequent colds, rhinitis, and snoring, while those with wheeze or both wheeze and cough are more likely to have hay fever, eczema, and parental histories of asthma.
PEDIATRIC PULMONOLOGY
(2023)
Article
Respiratory System
Eva S. L. Pedersen, Claudia E. Kuehni
Article
Public, Environmental & Occupational Health
Eva S. L. Pedersen, Leonie D. Schreck, Myrofora Goutaki, Sara Bellu, Fiona Copeland, Jane S. Lucas, Marcel Zwahlen, Claudia E. Kuehni, COVID PCD Patient Advisory Grp
Summary: This study investigates the incidence and severity of SARS-CoV-2 in people with primary ciliary dyskinesia (PCD) and identifies risk factors for infection. The results show that PCD patients do not have a higher incidence of SARS-CoV-2 infections or a higher risk of severe COVID-19 disease compared to the general population.
INTERNATIONAL JOURNAL OF PUBLIC HEALTH
(2023)
Article
Medicine, General & Internal
Maria Christina Mallet, Rebeca Mozun, Eva S. L. Pedersen, Cristina Ardura-Garcia, Erol A. Gaillard, Philipp Latzin, Alexander Moeller, Claudia E. Kuehni
Summary: Two population-based studies show that the prevalence estimates of cough in children vary depending on the questions asked, and there is only partial overlap between the responses to different questions. The prevalence of cough is also influenced by age, sex, presence of wheeze, and parental education.
SWISS MEDICAL WEEKLY
(2023)