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This article was published in the following journal.
Name: American journal of respiratory cell and molecular biology
Primary ciliary dyskinesia (PCD) is a genetically heterogeneous chronic destructive airway disease. PCD is traditionally diagnosed by nasal NO measurement, analysis of ciliary beating, transmission el...
CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of cilio...
Recent recognition of the key role of primary cilia in orchestrating human development and of the dire consequences of their dysfunction on human health have placed this small organelle in the spotlig...
The dynein axonemal assembly factor (Dnaaf) protein family is involved in preassembly and stability of dynein arms before they are transported into the cilia. In humans, mutations in DNAAF genes lead ...
Apical radial glia (aRGs) are predominant progenitors during corticogenesis. Perturbing their function leads to cortical malformations, including subcortical heterotopia (SH), characterized by the pre...
This study is designed to study DNA sequencings for mutations in a research genetic test panel of genes (which contains all 32 known and/or published genes associated with PCD). The study ...
OBJECTIVES: I. Characterize the clinical presentation of patients with primary ciliary dyskinesia. II. Identify the genetic mutations associated with this disease.
Mucociliary clearance, in which mucus secretions are cleared from the breathing airways, is the primary defense mechanism for the lungs. Inhaled particles, including microbes that can caus...
The main purpose of the study is to evaluate the effect of mannitol on the cilia's beat frequency (ciliary beat frequency) in COPD patients.
This is a new gene discovery program for individuals with PCD who do not have a specific genetic etiology identified. Research procedures involve a single blood draw from the affected indi...
Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms.
A ring of tissue extending from the scleral spur to the ora serrata of the retina. It consists of the uveal portion and the epithelial portion. The ciliary muscle is in the uveal portion and the ciliary processes are in the epithelial portion.
A class of ciliate protozoa. Characteristics include the presence of a well developed oral apparatus and oral cilia being clearly distinct from somatic cilia.
A ciliary neurotrophic factor receptor subunit. It is anchored to the cell surface via GLYCOSYLPHOSPHATIDYLINOSITOL LINKAGE and has specificity for binding to CILIARY NEUROTROPHIC FACTOR. It lacks signal transducing domains which are found on the other two subunits of the receptor.
A NIMA-related kinase that functions in CELL CYCLE regulation, the control of CILIA assembly, and CENTROSOME duplication. It is activated at G2 PHASE CELL CYCLE CHECKPOINTS in response to DNA DAMAGE.