Results 11 to 20 of about 6,697 (138)

Tubulin glutamylation: a key regulator of flagella, cilia, centrosomes, and disease pathways [PDF]

Journal of Biomedical Science
Tubulin glutamylation is an essential post-translational modification that expands the functional diversity of microtubules in many cellular structures, including flagella, motile cilia, primary cilia, centrosomes, and neurons.
Shiau-Chi Chen, Yi-Chien Chuang, Yu-Chun Lin   +2 more
doaj   +2 more sources

LRRC56 deficiency cause motile ciliopathies in humans and mice [PDF]

Frontiers in Genetics
IntroductionMotile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Although
Xiao-Hui Xie, Xiao-Hui Xie, Heng Gu, Heng Gu, Jun-Lin Yang, Jun-Lin Yang, Zhuang-Zhuang Yuan, Ke-Le Qin, Zhi-Ping Tan   +8 more
doaj   +2 more sources

In-depth analysis of obesity-associated changes in adipose tissue-derived mesenchymal stromal/stem cells and primary cilia function [PDF]

Communications Biology
Adipose tissue-derived mesenchymal stromal/stem cells (ASCs) possess regenerative potential. Obesity induces a pro-inflammatory environment that compromises their function.
Nina-Naomi Kreis, Alexandra Friemel, Andreas Ritter, Anna Elisabeth Hentrich, Esther Siebelitz, Frank Louwen, Juping Yuan   +6 more
doaj   +2 more sources

A Quarter Century of EHD Protein Research: From Endosomal Recycling to Ciliopathies. [PDF]

Traffic
Human EHD protein subcellular localization. ABSTRACT Eps15 homology domain‐containing proteins comprise a conserved family of membrane‐remodeling ATPases that regulate endocytic trafficking, membrane fission, receptor recycling, primary ciliogenesis and membrane dynamics across eukaryotes. Since the initial identification of EHD1 and its Caenorhabditis
Frisby D, Misri G, Naslavsky N, Caplan S.   +3 more
europepmc   +2 more sources

Prevalence and course of disease after lung resection in primary ciliary dyskinesia: a cohort & nested case-control study

Respiratory Research, 2019
Background Lung resection is a controversial and understudied therapeutic modality in Primary Ciliary Dyskinesia (PCD). We assessed the prevalence of lung resection in PCD across countries and compared disease course in lobectomised and non-lobectomised ...
Panayiotis Kouis, Myrofora Goutaki, Florian S. Halbeisen, Ifigeneia Gioti, Nicos Middleton, Israel Amirav, on behalf of the Israeli PCD Consortium, Angelo Barbato, on behalf of the Italian PCD Consortium, Laura Behan, Mieke Boon, Nagehan Emiralioglu, Eric G. Haarman, Bulent Karadag, Cordula Koerner-Rettberg, Romain Lazor, on behalf of the Swiss PCD Group, Michael R. Loebinger, Bernard Maitre, on behalf of the French Reference Centre for Rare Lung Diseases, Henryk Mazurek, Lucy Morgan, Kim Gjerum Nielsen, Heymut Omran, Ugur Özçelik, Mareike Price, Andrzej Pogorzelski, Deborah Snijders, on behalf of the PCD Italian Consortium, Guillaume Thouvenin, on behalf of the French Reference Centre for Rare Lung Diseases, Claudius Werner, Zorica Zivkovic, Claudia E. Kuehni, Panayiotis K. Yiallouros   +34 more
doaj   +1 more source

Mutation of Growth Arrest Specific 8 Reveals a Role in Motile Cilia Function and Human Disease. [PDF]

PLoS Genetics, 2016
Ciliopathies are genetic disorders arising from dysfunction of microtubule-based cellular appendages called cilia. Different cilia types possess distinct stereotypic microtubule doublet arrangements with non-motile or 'primary' cilia having a 9+0 and ...
Wesley R Lewis, Erik B Malarkey, Douglas Tritschler, Raqual Bower, Raymond C Pasek, Jonathan D Porath, Susan E Birket, Sophie Saunier, Corinne Antignac, Michael R Knowles, Margaret W Leigh, Maimoona A Zariwala, Anil K Challa, Robert A Kesterson, Steven M Rowe, Iain A Drummond, John M Parant, Friedhelm Hildebrandt, Mary E Porter, Bradley K Yoder, Nicolas F Berbari   +20 more
doaj   +1 more source

Primary ciliary dyskinesia (PCD): A genetic disorder of motile cilia

Translational Science of Rare Diseases, 2019
Primary ciliary dyskinesia (PCD) is a genetic disorder of motile cilia. Clinical features include chronic oto-sino-pulmonary disease, laterality defects, and male fertility reflecting impaired function of respiratory cilia in the upper and lower respiratory tracts, nodal cilia in the embryonic node and sperm tails, respectively.
Margaret W, Leigh, Amjad, Horani, BreAnna, Kinghorn, Michael G, O'Connor, Maimoona A, Zariwala, Michael R, Knowles   +5 more
openaire   +3 more sources

KARTAGENER’S SYNDROME: A CASE REPORT

Clinical and Biomedical Research, 2023
Kartagener’s syndrome is a subset of primary ciliary dyskinesia, an autosomal recessive inherited disease, and is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus.
Nathalia Branco Schweitzer Mendes, Renata Marim da Silveira, Tomás Zanetti Milani, Trévor Ragnini Testa, Vicente Oliviecki Mecca, Vitória Razera Bordignon, Yasmynni Weis Escher   +6 more
doaj  

TULP4, a novel E3 ligase gene, participates in neuronal migration as a candidate in schizophrenia

CNS Neuroscience &Therapeutics, EarlyView., 2023
Mutations identified from four SCZ pedigrees resulted in decreased TULP4 expression. Tulp4 knockdown caused delayed neuron migration in embryonic mice, and impaired cognition and prepulse inhibition in adult mice. These phenotypes may be related to TULP4 through its involvement in the formation of a novel E3 ubiquitin ligases.
Yan Bi, Decheng Ren, Fan Yuan, Zhou Zhang, Daizhan Zhou, Xin Yi, Lei Ji, Keyi Li, Fengping Yang, Xi Wu, Xingwang Li, Yifeng Xu, Yun Liu, Peng Wang, Changqun Cai, Chuanxin Liu, Qian Ma, Lin He, Yi Shi, Guang He   +19 more
wiley   +1 more source

Primary ciliary dyskinesia: A review

Rare
Context: Primary ciliary dyskinesia (PCD) is a rare genetic disease characterized by impaired mucociliary clearance in the respiratory tract due to abnormal ciliary motility. The disease is often diagnosed late with bronchiectasis.
Shally Awasthi, Shambhavi Mishra
doaj   +1 more source