Articles
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Citation: Cilia 2012 1(Suppl 1):P82
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Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
Citation: Cilia 2012 1(Suppl 1):P80 -
The role of cilia and ciliary motility in otolith formation in the zebrafish embryo
Citation: Cilia 2012 1(Suppl 1):P78 -
A central role for Galectin 3 during renal epithelial cell morphogenesis after nephrectomy
Citation: Cilia 2012 1(Suppl 1):P76 -
A novel 9 kDa phosphoprotein is a component of the primary cilium and interacts with polycystin-1
Citation: Cilia 2012 1(Suppl 1):P74 -
Body axis elongation and ciliary function in zebrafish require Noni a novel ciliary protein
Citation: Cilia 2012 1(Suppl 1):P72 -
Vascular endothelial primary cilia regulate blood flow-induced EndoMT
Citation: Cilia 2012 1(Suppl 1):P70 -
Pkd1l1 as a molecular sensor of fluid flow during the breaking of left-right symmetry
Citation: Cilia 2012 1(Suppl 1):P68 -
CYLD tumour supressor regulates ciligenesis
Citation: Cilia 2012 1(Suppl 1):P66 -
Investigation of a novel cilia-related gene K04F10.2/KIAA0556 in C. elegans
Citation: Cilia 2012 1(Suppl 1):P43 -
SYSCILIA, “A systems biology approach to dissect cilia function and its disruption in human genetic disease”
Citation: Cilia 2012 1(Suppl 1):P41 -
Modeling the Matrix-Cilium-Golgi continuum in hyaline chondrocytes by electron tomography
Citation: Cilia 2012 1(Suppl 1):P39 -
The primary cilium regulates the expression and subcellular localization of kinesin-3 family member Kif13B
Citation: Cilia 2012 1(Suppl 1):P37 -
A reverse genetic screen for genes involved in ciliary formation and function
Citation: Cilia 2012 1(Suppl 1):P35 -
Investigating the roles and functions of Rab23 in primary ciliogenesis
Citation: Cilia 2012 1(Suppl 1):P33 -
Gene-based treatment options for Usher type 1C by translational read-through of a nonsense mutation
Citation: Cilia 2012 1(Suppl 1):O31 -
Live imaging of Rab8 trafficking defects in cc2d2a mutant zebrafish
Citation: Cilia 2012 1(Suppl 1):O29 -
Identification of novel interaction partners for Vlgr1b/GPR98 - a key component of the periciliary Usher syndrome protein network in photoreceptor cells
Citation: Cilia 2012 1(Suppl 1):P29 -
Joubert syndrome and related disorders: a paradigm to understand splitting and lumping in ciliopathies
Citation: Cilia 2012 1(Suppl 1):O27 -
Novel links between ciliopathies and FGF-related craniofacial syndromes
Citation: Cilia 2012 1(Suppl 1):O25 -
Bronchial and alveolar airway nitric oxide levels in primary ciliary dyskinesia and other respiratory diseases
Citation: Cilia 2012 1(Suppl 1):P10 -
Heterogeneity and causation of organ dysfunction in Alström syndrome
Citation: Cilia 2012 1(Suppl 1):P8 -
Differential requirements of ciliogenic/ciliopathy module components in restricting Joubert syndrome-associated Arl13b to a C. elegans Inv-like ciliary compartment
Citation: Cilia 2012 1(Suppl 1):O8 -
Development of a health related quality of life questionnaire for adult patients with Primary Ciliary Dyskinesia
Citation: Cilia 2012 1(Suppl 1):P6 -
Diagnostic of Primary Ciliary Dyskinesia: guidelines to obtain appropriate ciliate cell samples
Citation: Cilia 2012 1(Suppl 1):P4 -
http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl andother rare syndromes
Citation: Cilia 2012 1(Suppl 1):P2 -
Tubby is required for trafficking G protein-coupled receptors to neuronal cilia
Tubby is the founding member of the tubby-like family of proteins. The naturally occurring tubby mutation in mice causes retinitis pigmentosa, hearing loss and obesity. Tubby has been proposed to function as an a...
Citation: Cilia 2012 1:21 -
Mammalian Clusterin associated protein 1 is an evolutionarily conserved protein required for ciliogenesis
Clusterin associated protein 1 (CLUAP1) was initially characterized as a protein that interacts with clusterin, and whose gene is frequently upregulated in colon cancer. Although the consequences of these observa...
Citation: Cilia 2012 1:20 -
What are those cilia doing in the neural tube?
Primary cilia are present on almost all vertebrate cells, and they have diverse functions in distinct tissues. Cilia are important for sensation in multiple capacities in contexts as different as the retina, k...
Citation: Cilia 2012 1:19 -
Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies
Meckel-Gruber syndrome (MKS) is an autosomal recessive lethal condition that is a ciliopathy. MKS has marked phenotypic variability and genetic heterogeneity, with mutations in nine genes identified as causati...
Citation: Cilia 2012 1:18 -
A method for measuring electrical signals in a primary cilium
Most cells in the body possess a single primary cilium. These cilia are key transducers of sensory stimuli, and defects in cilia have been linked to several diseases. Evidence suggests that some transduction o...
Citation: Cilia 2012 1:17 -
ParameciumBBS genes are key to presence of channels in Cilia
Changes in genes coding for ciliary proteins contribute to complex human syndromes called ciliopathies, such as Bardet-Biedl Syndrome (BBS). We used the model organism Paramecium to focus on ciliary ion channels ...
Citation: Cilia 2012 1:16 -
Primary cilia and aberrant cell signaling in epithelial ovarian cancer
Ovarian cancer is the fourth leading cause of cancer-related deaths among women in Denmark, largely due to the advanced stage at diagnosis in most patients. Approximately 90% of ovarian cancers originate from ...
Citation: Cilia 2012 1:15 -
ciliaFA: a research tool for automated, high-throughput measurement of ciliary beat frequency using freely available software
Analysis of ciliary function for assessment of patients suspected of primary ciliary dyskinesia (PCD) and for research studies of respiratory and ependymal cilia requires assessment of both ciliary beat patter...
Citation: Cilia 2012 1:14 -
Ciliary and non-ciliary expression and function of PACRGduring vertebrate development
Park2-co-regulated gene (PACRG) is evolutionarily highly conserved from green algae to mammals. In Chlamydomonas and trypanosomes, the PACRG protein associates with flagella. Loss of PACRG results in shortened or...
Citation: Cilia 2012 1:13 -
The effect of halothane and pentobarbital sodium on brain ependymal cilia
The effect of anesthetic agents on ependymal ciliary function is unknown. The aim of this study was to determine the effect of halothane and pentobarbital sodium on brain ependymal ciliary function.
Citation: Cilia 2012 1:12 -
Development of a method for the measurement of primary cilia length in 3D
Primary cilia length is an important measure of cell and tissue function. While accurate length measurements can be calculated from cells in 2D culture, measurements in tissue or 3D culture are inherently diff...
Citation: Cilia 2012 1:11 -
The transition zone: an essential functional compartment of cilia
Recent studies of the primary cilium have begun to provide further insights into ciliary ultrastructure, with an emerging picture of complex compartmentalization and molecular components that combine in functi...
Citation: Cilia 2012 1:10 -
Centrosomes in the zebrafish (Danio rerio): a review including the related basal body
Ever since Edouard Van Beneden and Theodor Boveri first formally described the centrosome in the late 1800s, it has captivated cell biologists. The name clearly indicated its central importance to cell functio...
Citation: Cilia 2012 1:9 -
Analysis of ependymal ciliary beat pattern and beat frequency using high speed imaging: comparison with the photomultiplier and photodiode methods
The aim of this study was to compare beat frequency measurements of ependymal cilia made by digital high speed imaging to those obtained using the photomultiplier and modified photodiode techniques. Using high...
Citation: Cilia 2012 1:8 -
Cilia develop long-lasting contacts, with other cilia
Citation: Cilia 2012 1:5 -
Cilia, Wnt signaling, and the cytoskeleton
Primary cilia have recently been highlighted as key regulators in development and disease. This review focuses on current work demonstrating the broad role of cilia-related proteins in developmental signaling ...
Citation: Cilia 2012 1:7 -
Live imaging of individual cell divisions in mouse neuroepithelium shows asymmetry in cilium formation and Sonic hedgehog response
Primary cilia are microtubule-based sensory organelles that play important roles in developmental signaling pathways. Recent work demonstrated that, in cell culture, the daughter cell that inherits the older m...
Citation: Cilia 2012 1:6 -
Trafficking in and to the primary cilium
Polarized vesicle trafficking is mediated by small GTPase proteins, such as Rabs and Arls/Arfs. These proteins have essential roles in maintaining normal cellular function, in part, through regulating intracel...
Citation: Cilia 2012 1:4 -
Primary cilia utilize glycoprotein-dependent adhesion mechanisms to stabilize long-lasting cilia-cilia contacts
The central tenet of cilia function is sensing and transmitting information. The capacity to directly contact extracellular surfaces would empower primary cilia to probe the environment for information about t...
Citation: Cilia 2012 1:3 -
The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically
Mutations in the gene for Usher syndrome 2A (USH2A) are causative for non-syndromic retinitis pigmentosa and Usher syndrome, a condition that is the most common cause of combined deaf-blindness. To gain insight i...
Citation: Cilia 2012 1:2 -
Cilia - the prodigal organelle
Citation: Cilia 2012 1:1