Results 1 to 10 of about 1,424,834 (230)

Unrecognized ciliary motility disorders in neutrophilic severe asthma exacerbations [PDF]

Allergy, Asthma & Clinical Immunology
Background Airway bacterial infections are frequent in severe asthma and are often under-appreciated as contributors to symptoms and exacerbations. We report our experience using integrative diagnostic methods to identify ciliary motility disorders as ...
Sarita Thawanaphong, Lucia Gonzalez-Bravo, Katherine Radford, Melanie Kjarsgaard, Carmen Venegas Garrido, Sergey Fedosenko, Terence Ho, Lindsey Dyment, Nadia Suray Tan, Kayla Zhang, Adil Adatia, Manali Mukherjee, Myrna Dolovich, Parameswaran Nair   +13 more
doaj   +6 more sources

Novel insights into the ciliary motility apparatus and molecular pathomechanisms of mucociliary clearance disorders

Disease Models & Mechanisms
Miriam Schmidts
doaj   +5 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   +3 more sources

Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151 [PDF]

Cilia, 2015
We present a stratification of the genetic basis of primary ciliary dyskinesia (PCD), based on screening >230 individuals for gene mutations using various approaches including whole exome sequencing. PCD is a genetically heterogeneous recessive ciliopathy, characterized by chronic lung disease and laterality and fertility defects arising from cilia and
Onoufriadis, A, Hjeij, R, Watson, CM, Slagle, CE, Klena, NT, Dougherty, GW, Kurkowiak, M, Loges, NT, Diggle, CP, Morante, NF, Gabriel, GC, Lemke, KL, Li, Y, Pennekamp, P, Menchen, T, Marthin, JK, Mans, D, Letteboer, SJ, Werner, C, Burgoyne, T, Westermann, C, Rutman, A, Carr, IM, O'Callaghan, C, Moya, E, Chung, EMK, Sheridan, E, Nielsen, KG, Roepman, R, Burdine, RD, Lo, CW, Omran, H, Mitchison, H   +32 more
openaire   +2 more sources

Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder [PDF]

F1000Prime Reports, 2015
Primary ciliary dyskinesia (PCD) is a ciliopathy, but represents the sole entity from this class of disorders that results from the dysfunction of motile cilia. Characterized by respiratory problems appearing in childhood, infertility, and situs defects in ~50% of individuals, PCD has an estimated prevalence of approximately 1 in 10,000 live births ...
Kavita Praveen, Erica E. Davis, Nicholas Katsanis   +2 more
openaire   +3 more sources

Morpholino-Mediated Knockdown of Ciliary Genes in Euplotes vannus, a Novel Marine Ciliated Model Organism

Frontiers in Microbiology, 2020
Cilia are highly conserved organelles present in almost all types of eukaryotic cells, and defects in cilia structure and/or function are related to many human genetic disorders.
Danxu Tang, Danxu Tang, Xiaoyu Wang, Xiaoyu Wang, Jingyi Dong, Jingyi Dong, Yuan Li, Yuan Li, Feng Gao, Feng Gao, Haibo Xie, Haibo Xie, Chengtian Zhao, Chengtian Zhao, Chengtian Zhao   +14 more
doaj   +2 more sources

Pneumonia and bacteremia due to Pseudomonas aeruginosa in a primary ciliary dyskinesia patient with DNAH5 variants: A case report

Respiratory Medicine Case Reports
Ciliary motility disorders can be inherited or acquired. DNAH5, located on chromosome 5p15.2 and encoding a protein of 4624 amino acids, is one of the most frequently implicated genes in congenital conditions known as primary ciliary dyskinesia (PCD ...
Ririko Shinozaki, Yukihiro Sugimoto, Hirohumi Nakano, Ryota Aoki, Takayuki Yamamoto, Kengo Takata, Daiki Hasama, Yu Tukasa   +7 more
doaj   +2 more sources

Traffic Jams in the Brain: How Kinesin Dysfunction Shapes Neurodevelopmental Disorders [PDF]

Current Issues in Molecular Biology
The development and maintenance of the nervous system depend on a tightly regulated intracellular transport network in which kinesin superfamily (KIF) motor proteins drive microtubule-based delivery of synaptic vesicle precursors, organelles, mRNAs, and ...
Mohammad Sadegh Shams Nosrati, Morteza Doustmohammadi, Alireza Dostmohammadi, Armita Kakavand Hamidi, Mahsa Boogari, Zahra Hoseini Tavassol, Shakiba Khosravinejat, Majid Asgari, Morvarid Shafiei, Amir Hesam Nemati, Ferruccio Romano, Valeria Capra, Bruno Sterlini, Mohammad Darbalaei, Mohammad Salehi, Mir Davood Omrani, Federico Zara, Zoha Kibar, Tatsuo Miyamoto, Marcello Scala   +19 more
doaj   +2 more sources

Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain. [PDF]

PLoS Genetics, 2013
Cilia are microtubule-based cell appendages, serving motility, chemo-/mechano-/photo- sensation, and developmental signaling functions. Cilia are comprised of distinct structural and functional subregions including the basal body, transition zone (TZ ...
Sebiha Cevik, Anna A W M Sanders, Erwin Van Wijk, Karsten Boldt, Lara Clarke, Jeroen van Reeuwijk, Yuji Hori, Nicola Horn, Lisette Hetterschijt, Anita Wdowicz, Andrea Mullins, Katarzyna Kida, Oktay I Kaplan, Sylvia E C van Beersum, Ka Man Wu, Stef J F Letteboer, Dorus A Mans, Toshiaki Katada, Kenji Kontani, Marius Ueffing, Ronald Roepman, Hannie Kremer, Oliver E Blacque   +22 more
doaj   +2 more sources

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