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Cilia

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https://www.readbyqxmd.com/read/28400947/mutations-in-ift-a-satellite-core-component-genes-ift43-and-ift121-produce-short-rib-polydactyly-syndrome-with-distinctive-campomelia
#1
Ivan Duran, S Paige Taylor, Wenjuan Zhang, Jorge Martin, Faisal Qureshi, Suzanne M Jacques, Robert Wallerstein, Ralph S Lachman, Deborah A Nickerson, Michael Bamshad, Daniel H Cohn, Deborah Krakow
BACKGROUND: Skeletal ciliopathies comprise a spectrum of ciliary malfunction disorders that have a profound effect on the skeleton. Most common among these disorders is short rib polydactyly syndrome (SRPS), a recessively inherited perinatal lethal condition characterized by a long narrow chest, markedly shortened long bones, polydactyly and, often, multi-organ system involvement. SRPS shows extensive locus heterogeneity with mutations in genes encoding proteins that participate in cilia formation and/or function...
2017: Cilia
https://www.readbyqxmd.com/read/28367320/basal-body-positioning-and-anchoring-in-the-multiciliated-cell-paramecium-tetraurelia-roles-of-ofd1-and-vfl3
#2
Hakim Bengueddach, Michel Lemullois, Anne Aubusson-Fleury, France Koll
BACKGROUND: The development of a ciliary axoneme requires the correct docking of the basal body at cytoplasmic vesicles or plasma membrane. In the multiciliated cell Paramecium, three conserved proteins, FOR20, Centrin 2, and Centrin 3 participate in this process, FOR20 and Centrin 2 being involved in the assembly of the transition zone. We investigated the function of two other evolutionary conserved proteins, OFD1 and VFL3, likely involved in this process. RESULTS: In Paramecium tetraurelia, a single gene encodes OFD1, while four genes encode four isoforms of VFL3, grouped into two families, VFL3-A and VFL3-B...
2017: Cilia
https://www.readbyqxmd.com/read/28352462/fixation-methods-can-differentially-affect-ciliary-protein-immunolabeling
#3
Kiet Hua, Russell J Ferland
BACKGROUND: Primary cilia are immotile, microtubule-based organelles present on most cells. Defects in primary cilia presence/function result in a category of developmental diseases referred to as ciliopathies. As the cilia field progresses, there is a need to consider both the ciliary and extraciliary roles of cilia proteins. However, traditional fixation methods are not always suitable for examining the full range of localizations of cilia proteins. Here, we tested a variety of fixation methods with commonly used cilia markers to determine the most appropriate fixation method for different cilia proteins...
2017: Cilia
https://www.readbyqxmd.com/read/28344782/la-related-protein-6-controls-ciliated-cell-differentiation
#4
Zarko Manojlovic, Ryan Earwood, Akiko Kato, Diana Perez, Oscar A Cabrera, Ruth Didier, Timothy L Megraw, Branko Stefanovic, Yoichi Kato
BACKGROUND: La-related protein 6 (LARP6) is an evolutionally conserved RNA-binding protein. Vertebrate LARP6 binds the 5' stem-loop found in mRNAs encoding type I collagen to regulate their translation, but other target mRNAs and additional functions for LARP6 are unknown. The aim of this study was to elucidate an additional function of LARP6 and to evaluate the importance of its function during development. METHODS: To uncover the role of LARP6 in development, we utilized Morpholino Oligos to deplete LARP6 protein in Xenopus embryos...
2017: Cilia
https://www.readbyqxmd.com/read/28344781/patient-specific-three-dimensional-explant-spheroids-derived-from-human-nasal-airway-epithelium-a-simple-methodological-approach-for-ex-vivo-studies-of-primary-ciliary-dyskinesia
#5
June Kehlet Marthin, Elizabeth Munkebjerg Stevens, Lars Allan Larsen, Søren Tvorup Christensen, Kim Gjerum Nielsen
BACKGROUND: Three-dimensional explant spheroid formation is an ex vivo technique previously used in studies of airway epithelial ion and water transport. Explanted cells and sheets of nasal epithelium form fully differentiated spheroids enclosing a partly fluid-filled lumen with the ciliated apical surface facing the outside and accessible for analysis of ciliary function. METHODS: We performed a two-group comparison study of ciliary beat pattern and ciliary beat frequency in spheroids derived from nasal airway epithelium in patients with primary ciliary dyskinesia (PCD) and in healthy controls...
2017: Cilia
https://www.readbyqxmd.com/read/28344780/abnormal-glycosylation-in-joubert-syndrome-type-10
#6
Megan S Kane, Mariska Davids, Michelle R Bond, Christopher J Adams, Megan E Grout, Ian G Phelps, Diana R O'Day, Jennifer C Dempsey, Xeuli Li, Gretchen Golas, Gilbert Vezina, Meral Gunay-Aygun, John A Hanover, Dan Doherty, Miao He, May Christine V Malicdan, William A Gahl, Cornelius F Boerkoel
BACKGROUND: The discovery of disease pathogenesis requires systematic agnostic screening of multiple homeostatic processes that may become deregulated. We illustrate this principle in the evaluation and diagnosis of a 5-year-old boy with Joubert syndrome type 10 (JBTS10). He carried the OFD1 mutation p.Gln886Lysfs*2 (NM_003611.2: c.2656del) and manifested features of Joubert syndrome. METHODS: We integrated exome sequencing, MALDI-TOF mass spectrometry analyses of plasma and cultured dermal fibroblasts glycomes, and full clinical evaluation of the proband...
2017: Cilia
https://www.readbyqxmd.com/read/28293419/cilia-before-and-after
#7
REVIEW
Peter Satir
This is a history of cilia research before and after the discovery of intraflagellar transport (IFT) and the link between primary cilia ciliogenesis and polycystic kidney disease (PKD). Before IFT, ca. the beginning of the new millennium, although sensory and primary cilia were well described, research was largely focused on motile cilia, their structure, movement, and biogenesis. After IFT and the link to PKD, although work on motile cilia has continued to progress, research on primary cilia has exploded, leading to new insights into the role of cilia in cell signaling and development...
2017: Cilia
https://www.readbyqxmd.com/read/27602205/using-sea-urchin-gametes-and-zygotes-to-investigate-centrosome-duplication
#8
REVIEW
Greenfield Sluder
Centriole structure and function in the sea urchin zygote parallel those in mammalian somatic cells. Here, I briefly introduce the properties and attributes of the sea urchin system that make it an attractive platform for the study of centrosome and centriole duplication. These attributes apply to all echinoderms readily available from commercial suppliers: sea urchins, sand dollars, and starfish. I list some of the practical aspects of the system that make it a cost- and time-effective system for experimental work and then list properties that are a "tool kit" that can be used to conduct studies that would not be practical, or in some cases not possible, with mammalian somatic cells...
2016: Cilia
https://www.readbyqxmd.com/read/27493724/the-in-out-assay-a-new-tool-to-study-ciliogenesis
#9
Ira Kukic, Felix Rivera-Molina, Derek Toomre
BACKGROUND: Nearly all cells have a primary cilia on their surface, which functions as a cellular antennae. Primary cilia assembly begins intracellularly and eventually emerges extracellularly. However, current ciliogenesis assays, which detect cilia length and number, do not monitor ciliary stages. METHODS: We developed a new assay that detects antibody access to a fluorescently tagged ciliary transmembrane protein, which revealed three ciliary states: classified as 'inside,' 'outside,' or 'partial' cilia...
2016: Cilia
https://www.readbyqxmd.com/read/27382461/drosophila-melanogaster-as-a-model-for-basal-body-research
#10
REVIEW
Swadhin Chandra Jana, Mónica Bettencourt-Dias, Bénédicte Durand, Timothy L Megraw
The fruit fly, Drosophila melanogaster, is one of the most extensively studied organisms in biological research and has centrioles/basal bodies and cilia that can be modelled to investigate their functions in animals generally. Centrioles are nine-fold symmetrical microtubule-based cylindrical structures required to form centrosomes and also to nucleate the formation of cilia and flagella. When they function to template cilia, centrioles transition into basal bodies. The fruit fly has various types of basal bodies and cilia, which are needed for sensory neuron and sperm function...
2016: Cilia
https://www.readbyqxmd.com/read/27379179/eight-unique-basal-bodies-in-the-multi-flagellated-diplomonad-giardia-lamblia
#11
REVIEW
Shane G McInally, Scott C Dawson
Giardia lamblia is an intestinal parasitic protist that causes significant acute and chronic diarrheal disease worldwide. Giardia belongs to the diplomonads, a group of protists in the supergroup Excavata. Diplomonads are characterized by eight motile flagella organized into four bilaterally symmetric pairs. Each of the eight Giardia axonemes has a long cytoplasmic region that extends from the centrally located basal body before exiting the cell body as a membrane-bound flagellum. Each basal body is thus unique in its cytological position and its association with different cytoskeletal features, including the ventral disc, axonemes, and extra-axonemal structures...
2016: Cilia
https://www.readbyqxmd.com/read/27335639/ciliogenesis-and-the-dna-damage-response-a-stressful-relationship
#12
REVIEW
Colin A Johnson, Spencer J Collis
Both inherited and sporadic mutations can give rise to a plethora of human diseases. Through myriad diverse cellular processes, sporadic mutations can arise through a failure to accurately replicate the genetic code or by inaccurate separation of duplicated chromosomes into daughter cells. The human genome has therefore evolved to encode a large number of proteins that work together with regulators of the cell cycle to ensure that it remains error-free. This is collectively known as the DNA damage response (DDR), and genome stability mechanisms involve a complex network of signalling and processing factors that ensure redundancy and adaptability of these systems...
2016: Cilia
https://www.readbyqxmd.com/read/27293550/the-cilia-regulated-proteasome-and-its-role-in-the-development-of-ciliopathies-and-cancer
#13
REVIEW
Christoph Gerhardt, Tristan Leu, Johanna Maria Lier, Ulrich Rüther
The primary cilium is an essential structure for the mediation of numerous signaling pathways involved in the coordination and regulation of cellular processes essential for the development and maintenance of health. Consequently, ciliary dysfunction results in severe human diseases called ciliopathies. Since many of the cilia-mediated signaling pathways are oncogenic pathways, cilia are linked to cancer. Recent studies demonstrate the existence of a cilia-regulated proteasome and that this proteasome is involved in cancer development via the progression of oncogenic, cilia-mediated signaling...
2016: Cilia
https://www.readbyqxmd.com/read/27252853/the-basal-bodies-of-chlamydomonas-reinhardtii
#14
REVIEW
Susan K Dutcher, Eileen T O'Toole
The unicellular green alga, Chlamydomonas reinhardtii, is a biflagellated cell that can swim or glide. C. reinhardtii cells are amenable to genetic, biochemical, proteomic, and microscopic analysis of its basal bodies. The basal bodies contain triplet microtubules and a well-ordered transition zone. Both the mother and daughter basal bodies assemble flagella. Many of the proteins found in other basal body-containing organisms are present in the Chlamydomonas genome, and mutants in these genes affect the assembly of basal bodies...
2016: Cilia
https://www.readbyqxmd.com/read/27168933/zebrafish-a-vertebrate-tool-for-studying-basal-body-biogenesis-structure-and-function
#15
REVIEW
Ryan A Marshall, Daniel P S Osborn
Understanding the role of basal bodies (BBs) during development and disease has been largely overshadowed by research into the function of the cilium. Although these two organelles are closely associated, they have specific roles to complete for successful cellular development. Appropriate development and function of the BB are fundamental for cilia function. Indeed, there are a growing number of human genetic diseases affecting ciliary development, known collectively as the ciliopathies. Accumulating evidence suggests that BBs establish cell polarity, direct ciliogenesis, and provide docking sites for proteins required within the ciliary axoneme...
2016: Cilia
https://www.readbyqxmd.com/read/27148446/flagellar-apparatus-structure-of-choanoflagellates
#16
REVIEW
Sergey A Karpov
Phylum choanoflagellata is the nearest unicellular neighbor of metazoa at the phylogenetic tree. They are single celled or form the colonies, can be presented by naked cells or live in theca or lorica, but in all cases they have a flagellum surrounded by microvilli of the collar. They have rather uniform and peculiar flagellar apparatus structure with flagellar basal body (FB) producing a flagellum, and non-flagellar basal body (NFB) lying orthogonal to the FB. Long flagellar transition zone contains a unique structure among eukaryotes, the central filament, which connects central microtubules to the transversal plate...
2016: Cilia
https://www.readbyqxmd.com/read/27141300/update-on-oral-facial-digital-syndromes-ofds
#17
REVIEW
Brunella Franco, Christel Thauvin-Robinet
Oral-facial-digital syndromes (OFDS) represent a heterogeneous group of rare developmental disorders affecting the mouth, the face and the digits. Additional signs may involve brain, kidneys and other organs thus better defining the different clinical subtypes. With the exception of OFD types I and VIII, which are X-linked, the majority of OFDS is transmitted as an autosomal recessive syndrome. A number of genes have already found to be mutated in OFDS and most of the encoded proteins are predicted or proven to be involved in primary cilia/basal body function...
2016: Cilia
https://www.readbyqxmd.com/read/27114821/a-primer-on-the-mouse-basal-body
#18
REVIEW
Galo Garcia, Jeremy F Reiter
The basal body is a highly organized structure essential for the formation of cilia. Basal bodies dock to a cellular membrane through their distal appendages (also known as transition fibers) and provide the foundation on which the microtubules of the ciliary axoneme are built. Consequently, basal body position and orientation dictates the position and orientation of its cilium. The heart of the basal body is the mother centriole, the older of the two centrioles inherited during mitosis and which is comprised of  nine triplet microtubules arranged in a cylinder...
2016: Cilia
https://www.readbyqxmd.com/read/27069622/a-novel-ick-mutation-causes-ciliary-disruption-and-lethal-endocrine-cerebro-osteodysplasia-syndrome
#19
Machteld M Oud, Carine Bonnard, Dorus A Mans, Umut Altunoglu, Sumanty Tohari, Alvin Yu Jin Ng, Ascia Eskin, Hane Lee, C Anthony Rupar, Nathalie P de Wagenaar, Ka Man Wu, Piya Lahiry, Gregory J Pazour, Stanley F Nelson, Robert A Hegele, Ronald Roepman, Hülya Kayserili, Byrappa Venkatesh, Victoria M Siu, Bruno Reversade, Heleen H Arts
BACKGROUND: Endocrine-cerebro-osteodysplasia (ECO) syndrome [MIM:612651] caused by a recessive mutation (p.R272Q) in Intestinal cell kinase (ICK) shows significant clinical overlap with ciliary disorders. Similarities are strongest between ECO syndrome, the Majewski and Mohr-Majewski short-rib thoracic dysplasia (SRTD) with polydactyly syndromes, and hydrolethalus syndrome. In this study, we present a novel homozygous ICK mutation in a fetus with ECO syndrome and compare the effect of this mutation with the previously reported ICK variant on ciliogenesis and cilium morphology...
2016: Cilia
https://www.readbyqxmd.com/read/27047659/naegleria-a-classic-model-for-de-novo-basal-body-assembly
#20
REVIEW
Lillian K Fritz-Laylin, Chandler Fulton
The amoeboflagellate Naegleria was one of the first organisms in which de novo basal body/centriole assembly was documented. When in its flagellate form, this single-celled protist has two flagella that are templated by two basal bodies. Each of these basal bodies is structurally well conserved, with triplet microtubules and well-defined proximal cartwheel structures, similar to most other eukaryotic centrioles. The basal bodies are anchored to the nucleus by a single, long striated rootlet. The Naegleria genome encodes many conserved basal body genes whose expression is induced prior to basal body assembly...
2016: Cilia
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