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• Keywords: ciliary orientation, immotile cilia syndrome, Kartagener's syndrome, neonatal pneumonia, primary ciliary dyskinesia, rhinosinusitis.
• Two infants with typical PCD syndrome but normal ultrastructure of individual cilia also had orientation studies. ...
• The two infants with PCD syndrome but normal ultrastructure of individual cilia had ciliary orientation of (Case 1) 44. ...
• The two cases of phenotypic primary ciliary dyskinesia in the presence of normal ciliary ultrastructure but abnormal ciliary orientation in infants supports the contention that measurement of ciliary orientation should be part of the assessment of ciliary structure and function in cases of possible primary ciliary dyskinesia, in particular when the ultrastructure of individual cilia appear to be normal. ...
• Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults.

• Move the cilia and flagella.
• Microtubules are responsible for the movement of cilia and flagella.
• Cilia and Flagella.
• Cilia and flagella are hairlike structures projecting from the cell that function to move the cell by their movements. ...
• Cells that contain cilia are ciliated.
• Cilia are shorter than flagella but are similar in construction.
• Many kinds of single-celled organisms such as the Paramecium in the photograph below move by cilia or flagella. The cilia can be seen covering the cell in the photograph.
• Cells lining the human upper respiratory tract are ciliated (have cilia). The cilia move mucous and debris upward to the mouth where it is swallowed. ... Note the cilia on the upper surface.
• This 9 + 2 pattern is characteristic of all eukaryotic cilia and flagella but not those of prokaryotes.
• The shifting positions of the cross-links move the cilia or flagella.
• Basal bodies anchor the cilia or flagella and are thought to be responsible for their formation.

• Cilia are organelles that play diverse roles, from fluid movement to sensory reception. ... Here, we explore the role of polaris in primary cilia on Madin-Darby canine kidney cells. The results indicate that polaris localization and solubility change dramatically during cilia formation. ... These cells do not develop normal cilia, which can be corrected by reexpression of the wild-type Tg737 gene. These data suggest that the primary cilia are important for normal renal function and/or development and that the ciliary defect may be a contributing factor to the cystic disease in Tg737°rpk mice. Further characterization of these cells will be important in elucidating the physiological role of renal cilia and in determining their relationship to cystic disease. ...
• orpk mouse model of polycystic kidney disease reveals essential role of primary cilia in pancreatic tissue organization.
• XBX-1 Encodes a Dynein Light Intermediate Chain Required for Retrograde Intraflagellar Transport and Cilia Assembly in Caenorhabditis elegans.
• Expression analyses and interaction with the anaphase promoting complex protein Apc2 suggest a role for inversin in primary cilia and involvement in the cell cycle.
• Cilia in PKD--Letting It All Hang Out.

• In particular, the roles of cilia and motor proteins have been hotly debated in the field. ... The following review outlines the current state of the field and proposes an alternative to the currently popular cilia model.
• Recently, a candidate for the origins of asymmetry has been suggested: bulk transport of extracellular morphogens by rotating primary cilia during gastrulation. This model is appealing because it ‘bootstraps’ morphological asymmetry of the embryo from the intrinsic structural (molecular) chirality of motile cilia. ...
• Left-right asymmetry, developmental biology, embryo, ion transport, motor proteins, cilia.

• Recent studies have suggested that primary cilia of renal tubular epithelial cells may function to maintain normal tubular architecture, and that ciliary abnormalities may be a cause of cyst formation in polycystic kidney disease (PKD). ... (2) in a recent issue of PNAS provides new insight into this problem by showing that kidney-specific Cre-loxP inactivation of the gene for the KIF3A subunit of kinesin-II, an anterograde (outward moving) ciliary motor protein, causes PKD, thus directly implicating cilia in the cyst-forming mechanism. ...
• is the latest in a series of discoveries that have reported connections between PKD and the assembly and function of cilia of mice and the nematode, Caenorhabditis elegans, and of flagella of the unicellular green alga, Chlamydomonas (for previous reviews, see refs. ... Later, deletion of the Tg737 gene was found to give rise to an embryo-lethal phenotype that is due to an absence or stunting of cilia on ventral node epithelial cells (5, 6), causing disruption of early morphological left-right axis determination (5). The protein product of this gene, polaris, was localized in the axoneme and basal body of primary cilia (6, 7) and was found to be required for ciliary assembly (6, 8). ... The cpk gene encodes a protein, cystin, that was found to reside in the axonemal region of primary cilia, partially overlapping with polaris (13). This too may be a functional rather than structural defect because no obvious structural abnormalities were noted by electron microscopy in the cilia of cpk mutant mice (14). ...  elegans, which identified homologs of the PKD genes lov-1 (for location of vulva, a homolog of PKD1) and pkd-2, whose protein products were found to localize in cilia of sensory neurons (15, 16). ... (19) localized the PKD2 product, polycystin-2, to cilia of renal epithelial cells. ... (20) reported that the PKD1 product, polycystin-1, as well as polycystin-2, polaris, and cystin all localize to primary cilia of cultured mouse cortical collecting duct cells. What is remarkable about all these studies is the variety of PKD models and the numerous connections between PKD proteins and cilia. ...
• Primary cilia (Fig. ... Primary cilia, which are usually nonmotile, are thought to serve either a chemosensory or mechanosensory function. These cilia often contain high concentrations of receptors and are ideally positioned to interact with their environment, as with the odorant receptors on olfactory cilia (24) or the highly specialized cone and rod photoreceptors that respond to light. Cilia also contain the requisite signaling components, including heterotrimeric G proteins and ion channels. In fact, a recent proteomics study of motile (9 + 2) respiratory tract cilia found evidence for >200 potential axonemal proteins, including the Tg737 protein, polaris (25). ...

• Visualizing Odor Detection in Olfactory Cilia by Calcium Imaginga .
• To visualize odor detection in individual cilia of olfactory sensory neurons we have developed a new approach by using high-resolution calcium imaging techniques. Laser scanning confocal microscopy revealed, for the first time, that odor stimuli induce transient Ca2+ elevations in single olfactory cilia. ...

• Functional analysis of cilia and ciliated epithelial ultrastructure in healthy children and young adults .
• Beating cilia were recorded using a digital high speed video camera which allowed analysis of ciliary beat pattern and beat frequency. ...
• 01, t test); 10% (range 6–24%) of ciliated edges were found to have areas of dyskinetically beating cilia. ... Ciliary ultrastructural defects were found in less than 5% of cilia. ...

• Immotile cilia syndrome: past, present, and prospects for the future .
• The existence of a genetic disease caused by immotile cilia was reported in a short paper published in 1976. ...
• Cilia from the lung, nose, or elsewhere have a structure that is highly conservative and, moreover, resembles that of the sperm flagellum. ...
• The ultrastructure of the sperm tail from three infertile men with immotile but otherwise normal spermatozoa had been described in two papers in 19752 3; they were found to lack the so-called dynein arms, the structures responsible for generating the movements of cilia or sperm tails. ...
• It was assumed that a genetic defect involving the dynein arms in the sperm tail would affect those in the cilia as well. ... The bronchial cilia of a fourth man with immotile spermatozoa were then examined and both the cilia and his spermatozoa were found to lack dynein arms. ...
• It was concluded that the aetiology of the disease is a genetic defect of the cilia and that "chance alone will determine whether viscera will take up the normal or the reversed position during embryogenesis, when normal dynein arms are missing". This would result in a similar number of cases with and without situs inversus in the immotile cilia syndrome. ...
• Kartagener syndrome could therefore be regarded as a subgroup of the immotile cilia syndrome. ...
• The prevalence of Kartagener syndrome has been estimated to be about one in 68 000; that of immotile cilia syndrome would hence be about one in 34 000. ... This gives a prevalence of Kartagener syndrome of one in 50 000 and of immotile cilia syndrome of about one in 25 000. ...
• Since the original publication on the immotile cilia syndrome several hundred papers have been published on cilia, spermatozoa, fertility or sterility, sensory organs, and brain function in this and related diseases and several reviews have also been published. ...
• 14 Whereas his cilia lack dynein arms and hence are immotile, his spermatozoa have normal dynein arms. The reverse situation has also been foundnamely, a man with cilia of normal ultrastructure and presumably normal function (no lung problems) with immotile spermatozoa lacking dynein arms. 15 There is even a case of a man with Kartagener syndrome and with immotile spermatozoa lacking dynein arms but with cilia with dynein arms that in vitro were found to be motile. 16 It seems that cilia and spermatozoa are sufficiently different to have at least some proteins that are not shared. ...

• The assembly and functioning of cilia and flagella depend on a complex system of traffic between the organelles and the cell body. ... The best characterized is constitutive: in a process termed intraflagellar transport (IFT), flagellar structural components are continuously carried into cilia and flagella on transport complexes termed IFT particles via the microtubule motor protein kinesin II. ...

• A Proteomic Analysis of Human Cilia .
• Cilia play an essential role in protecting the respiratory tract by providing the force necessary for mucociliary clearance. Although the major structural components of human cilia have been described, a complete understanding of cilia function and regulation will require identification and characterization of all ciliary components. ... To identify all the components of human cilia, we have begun a comprehensive proteomic analysis of isolated ciliary axonemes. ... As an approach to validate the mass spectrometry results, additional studies examined the expression of several identified proteins (annexin I, sperm protein Sp17, retinitis pigmentosa protein RP1) in cilia or ciliated cells. ...
• Caenorhabditis elegans as a Model to Study Renal Development and Disease: Sexy Cilia.
• Intraflagellar Transport and Cilia-Dependent Renal Disease: The Ciliary Hypothesis of Polycystic Kidney Disease.
• A NOVEL MICROTUBULE-BINDING THIOREDOXIN EXPRESSED PREDOMINANTLY IN THE CILIA OF LUNG AIRWAY EPITHELIUM AND SPERMATID MANCHETTE AND AXONEME.
• To beat or not to beat: roles of cilia in development and disease.

• A two-cilia model for vertebrate left-right axis specification .
• Some node cilia are. ...
• A two-cilia model for. ...
• Implications of the two-cilia. ...
•   Some node cilia are motile . ...
• Some node cilia are. ...
• A two-cilia model for. ...
• Implications of the two-cilia. ...
• In particular, humans with Kartaganer syndrome exhibit frequent mirror-image reversals in the orientation of their internal organs along with respiratory difficulties caused by immotile tracheal cilia and male infertility related to defects in sperm motility (Afzelius 1976). ... Researchers in the field, however, did not immediately connect the existence of these node cilia to the initiation of L-R asymmetry, perhaps because of conflicting reports in the literature surrounding the motile properties of these cilia (Sulik et al. ... 1998) first describing a cilia-generated leftward flow at the mouse node sharply refocused thinking in the field, as prior to this time few actually believed that a mechanical mechanism involving directional fluid flow might lie at the heart of vertebrate L-R axis specification. Nonetheless, this realization was quite satisfying on an intellectual level as it provided a framework for understanding how handedness might arise de novo from the fixed orientation of the cilia coupled with the molecular chiralities acting to constrain the direction of ciliary rotation (Vogan and Tabin 1999). ...
• 1998)that node cilia are motile, that directional fluid flow exists at the mouse node, and that laterality defects in mice lacking the ciliary assembly protein KIF3B coincide with a lack of node cilia and an absence of nodal flowindicated an important role for nodal flow in the specification of the vertebrate L-R axis. ... 1999) are essentially devoid of cilia, making it unclear whether it is the absence of ciliary motility (and the concomitant loss of nodal flow) or the lack of cilia per se that is responsible for the L-R patterning defects observed in these mice. It was demonstrated shortly afterward that embryos deficient in Lrd function, although exhibiting normal node morphology, contain immotile node cilia and lack any discernable flow in the node region, lending key support to the nodal flow model (Okada et al. ...
• 1999), a critical left determinant, morphogen "X" (red), is released symmetrically into the node region and subsequently becomes concentrated to the left side of the node in response to nodal flow (green arrow) generated by the clockwise vortical rotation of motile node cilia (blue). ... (B) According to the two-cilia model described here, nodal flow (green arrow) generated by the activity of motile node cilia (blue) produces differential fluid pressure at the two sides of the node, leading to asymmetric stimulation of mechanosensory cilia (red) distributed symmetrically in the node region. In response to stimulation, these mechanosensory cilia initiate a calcium-mediated signal transduction event that leads to the asymmetric induction of Nodal and other left-sided genes. ...

• The results of the present study provide evidence that the two olfactory second messenger pathways in rat olfactory neurons do not work independently but rather show a functional antagonism: whereas inhibition of phospholipase C (PLC) in isolated olfactory cilia by U-73122 led to an augmentation of odor-induced cAMP signaling, activation of the phosphoinositol pathway resulted in attenuation of odor-induced cAMP formation. ...
• Isolation of olfactory cilia.
• Olfactory cilia preparations were obtained using the calcium shock method according to 28 . ... Detached cilia were isolated by three sequential centrifugation steps, each 5 min at 7700 g. ... The cilia preparation was obtained after a final centrifugation step of all pooled supernatants (15 min at 27 000 g). The resulting pellet containing the cilia was resuspended in hypotonic buffer (10 mM Tris, 3 mM MgCl2, 2 mM EGTA, pH 7. ...
• The reaction was started by mixing 200 µL of prewarmed reaction buffer with 30 µL of isolated olfactory cilia (0. ...
• To determine the influence of one second messenger cascade on the reactivity of the alternative pathway, 60 µL of isolated olfactory cilia, pretreated with different modulators (for example, forskolin, MDL-12 330 A, U-73122, Walsh inhibitor) for 10 min on ice, were first incubated for 2 min at 37 °C with 200 µL of prewarmed reaction buffer to which the appropriate concentrations of test substances (for example, odorants, forskolin, GTPS) had been added. ...
• The concentrations of the different modulators indicated are either during pretreatment of the cilia, or alternatively the ligand concentration in the reaction buffer. ...
• Because only a subpopulation of rat olfactory neurons display a distinct pattern of responsiveness to ‘InsP3’ odors as well as to ‘cAMP odors’ 27,34,35 , and a cell free system provides unrestricted access of pharmacological agents, isolated olfactory cilia were used to study possible cross-talk between the two reaction cascades. In order to examine whether inhibition of one reaction cascade might affect the reactivity of the alternative pathway in isolated olfactory cilia, endogenous PLC was blocked by the specific PLC inhibitor U-73122 34 , and then the odor-induced cAMP response was determined. First, the efficiency of PLC inhibition was analyzed; thus, cilia were pretreated with different concentrations of U-73122, and subsequently odor-induced InsP3 formation was determined upon stimulation with ‘InsP3 odors’ (lilial, lyral, triethyamine, isovaleric acid, each 10 µM). Pretreating cilia with U-73122 led to a dose-dependent reduction of odor-induced InsP3 signaling (Fig. ... The influence of inhibiting the PLC pathway on the alternative second messenger cascade was examined by analyzing cilia preparations that had been pretreated with U-73122. ...
• Isolated olfactory cilia were pretreated with different concentrations of U-73122 ranging from 0. ... Subsequently, olfactory cilia were stimulated with an odorant mixture of ‘cAMP odors’ (citralva, hedione and eugenol, each 10 µM). ...

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